Dr. Faquin studies head and neck cancers, especially those linked to human papillomavirus (HPV). He has developed a highly sensitive blood test that detects residual cancer DNA after surgery, helping to predict which patients are likely to relapse. He is also exploring genetic changes in thyroid cancers, enabling better diagnosis and management. His research aims to enhance early detection methods and the efficacy of treatments for various cancers, including adenoid cystic carcinoma and olfactory neuroblastoma, by utilizing advanced molecular techniques.
Key findings
Patients with detectable HPV-related cancer DNA after surgery had a 60% chance of staying cancer-free for 2 years, compared to 100% for those with no detectable DNA.
The new HPV whole genome sequencing blood test caught 98.7% of cancer cases while avoiding false positives 98.7% of the time, significantly outperforming existing tests.
In a case study, treating adenoid cystic carcinoma with STING agonists led to a tumor shrinkage of 70%, indicating potential for improved immunotherapy.
In a study of 319 thyroid tumors diagnosed as NIFTP, there were no recurrences or metastases within a 3-year period, suggesting current treatment guidelines may be overly aggressive.
The unique markers found in olfactory neuroblastoma help differentiate it from similar cancers, paving the way for targeted treatment options.
Frequently asked questions
Does Dr. Faquin study HPV-related cancers?
Yes, he focuses on HPV-associated head and neck cancers and has developed blood tests for early detection and monitoring.
What methods does Dr. Faquin use for cancer detection?
He employs advanced blood tests, including whole genome sequencing, and genetic analysis to identify tumors and predict patient outcomes.
Is Dr. Faquin's research relevant to thyroid cancer patients?
Absolutely, his work includes studying genetic alterations in thyroid cancers, which can lead to better diagnosis and tailored treatments.
What are the implications of Dr. Faquin's findings for cancer treatment?
His research could lead to more accurate early detection, improved monitoring after surgery, and potentially more effective treatments through targeted therapies.
How does Dr. Faquin's work impact patient outcomes?
By improving early detection and treatment strategies, his research aims to enhance survival rates and quality of care for cancer patients.
Publications in plain English
Data Sets for the Reporting of Head and Neck Tumors: Second Edition Update From the International Collaboration of Cancer Reporting.
2026
Archives of pathology & laboratory medicine
Thompson LDR, Bishop JA, Bullock M, Chernock RD, Faquin WC +5 more
Plain English This study focused on updating data reporting standards for various types of head and neck tumors to ensure that doctors and researchers use the same information worldwide. The second edition includes revised guidelines for conditions affecting areas like the throat, salivary glands, and oral cavity, based on the latest research. By improving how these tumors are documented and classified, the goal is to enhance patient care and outcomes—a process backed by international experts.
Who this helps: This benefits patients and healthcare providers by leading to better diagnosis and treatment strategies.
International Consensus Guidelines for Diagnostic Criteria and Checklist for Future Studies for Minimally Invasive Carcinoma ex Pleomorphic Adenoma: An HN CLEAR Initiative.
2026
Head and neck pathology
Beadle BM, Benzerdjeb N, Cho J, Costes-Martineau V, Faquin WC +10 more
Plain English This study focused on creating clear guidelines for diagnosing a specific type of cancer called carcinoma ex pleomorphic adenoma (Ca ex PA), which can be difficult to assess due to varying factors that affect patient outcomes. The researchers reached an agreement on what constitutes "minimally invasive" Ca ex PA, defining it as early-stage cancer that has been completely removed with clean edges, without spreading to nearby nerves or blood vessels. These guidelines are important because they help standardize how doctors identify and research this type of cancer, potentially leading to better patient care and outcomes.
Who this helps: This benefits doctors and patients dealing with carcinoma ex pleomorphic adenoma.
Positioning and reversible suppression of CCR7dendritic cells in perivascular tumor niches shape cancer immunity.
2026
Immunity
Zitti B, Duval F, Wirapati P, Hicham M, Xie Y +40 more
Plain English This study looked at a special type of immune cell called CCR7 dendritic cells in tumors to understand how their location affects the body’s ability to fight cancer. Researchers found that these cells cluster near blood vessels, and when they interact with regulatory immune cells, they can become suppressed and less effective at activating T cells, which are crucial for fighting tumors. By removing regulatory cells or using certain cancer treatments, they were able to boost the action of CCR7 dendritic cells and improve T cell responses in treating tumors.
Who this helps: This benefits cancer patients undergoing immunotherapy.
CCL3 is produced by aged neutrophils across cancers and promotes tumor growth.
2026
Cancer cell
Bolli E, Wirapati P, Hicham M, Xie Y, Siwicki M +26 more
Plain English This study looked at a type of immune cell called neutrophils in various types of cancer and found that a specific state of these cells, marked by a molecule called CCL3, helps tumors grow. Researchers analyzed over 190 tumors and discovered that CCL3-producing neutrophils thrive in low-oxygen areas of tumors, which encourages their survival and promotes tumor growth. Understanding this relationship is important because it could lead to new strategies for targeting these cells to slow cancer progression.
Who this helps: This helps cancer patients and doctors looking for new treatment options.
Human and viral whole genome sequencing identify HPV and APOBEC as oncogenic drivers in sinonasal squamous cell carcinoma.
2026
medRxiv : the preprint server for health sciences
Chong HB, Bryan ME, Lin M, Faquin WC, Mirabello L +4 more
Plain English This study looked at a type of head and neck cancer called sinonasal squamous cell carcinoma (SNSCC) and found that certain strains of the human papillomavirus (HPV), including HPV45, 51, and 39, play a significant role in causing this cancer. Researchers discovered that these HPV strains contribute to the cancer by integrating DNA into the tumor and causing mutations that help the cancer grow. This is important because it shows that more than 80% of SNSCC cases may be linked to specific virus strains, which could change how doctors diagnose and treat this aggressive cancer.
Who this helps: Patients with sinonasal squamous cell carcinoma.
Circulating Tumor HPV DNA Kinetics for Squamous Cell Carcinoma of the Lacrimal Sac Treated with Chemoradiotherapy.
2026
Head and neck pathology
Paly JJ, Faquin WC, Merkin RD, Shukla S, Lumaj G +4 more
Plain English This study looked at two patients with a rare type of cancer in the lacrimal sac, which is the area around the tear ducts, and both patients were positive for certain types of HPV (HPV16 and HPV33). Researchers monitored the levels of circulating tumor DNA (ctDNA) from these patients before, during, and after their treatment with chemotherapy and radiation, and found that using ctDNA tracking can effectively help detect and monitor the cancer's response to treatment. This finding is important because it supports the use of ctDNA as a non-invasive way to keep an eye on treatment success, which could guide future care for patients with this type of cancer.
Who this helps: Patients with lacrimal sac squamous cell carcinoma and their doctors.
Human Papillomavirus Testing in Head and Neck Carcinomas: Guideline Update.
2025
Archives of pathology & laboratory medicine
Lewis JS, Beadle B, Bishop JA, Chernock RD, Colasacco C +8 more
Plain English This study looked at how to test for the human papillomavirus (HPV) in head and neck cancers and updated guidelines based on new research. It found that there should be seven strong recommendations and four conditional ones for testing methods, especially noting different sites in the head and neck and including updates on sinonasal squamous cell carcinoma. This is important because it aims to improve and standardize HPV testing practices across different medical settings worldwide.
Who this helps: This benefits doctors and patients with head and neck cancers.
Oncocytic Tumors in the Salivary Gland: A Tri-Focal Review - Integrated Cytopathological, Pathological, and Molecular Features.
2025
Acta cytologica
Skalova A, Skálová A, Bradová M, Da Cruz Paula A, Faquin WC
Plain English This study looked at oncocytic tumors in the salivary glands, which are a specific type of tumor that can appear in various forms. The researchers found that while these tumors may look similar under a microscope, they can be very different on a molecular level. They emphasize that certain tests can help doctors accurately identify these tumors, which is important because misdiagnosis can lead to inappropriate treatments.
Who this helps: This helps doctors better diagnose and treat patients with salivary gland tumors.
Consensus in Oral Epithelial Dysplasia Classification: A Comparative Analysis of H&E-stained Sections With and Without p53/p16 Immunohistochemistry.
2025
The American journal of surgical pathology
Stojanov IJ, Liu KYP, McCord C, Chang JY, Wang YP +20 more
Plain English This study looked at how well pathologists agree on diagnosing oral epithelial dysplasia (OED), which is important for predicting the risk of cancer. They found that using a new method that includes p53 and p16 protein tests led to better agreement among 18 pathologists – with an agreement score of 0.59 compared to lower scores of 0.32 and 0.39 with traditional grading methods. This is important because more accurate classifications can help better identify patients at risk for squamous cell carcinoma.
Who this helps: Patients at risk of developing cancer and their doctors.
Spatial analysis identifies DC niches as predictors of pembrolizumab therapy in head and neck squamous cell cancer.
2025
Cell reports. Medicine
Oh J, Hoelzl J, Carlson JCT, Bill R, Peterson HM +4 more
Plain English This study examined 48 tumors from patients with head and neck cancer to understand why some respond better to a specific immunotherapy drug, pembrolizumab. The researchers found that the arrangement of certain immune cells, called CCR7 dendritic cells, is a better predictor of patient survival than the usual measures of tumor markers. This finding is important because it suggests that the way immune cells are organized in the tumor can help identify which patients are more likely to benefit from this treatment.
Who this helps: This helps doctors identify which patients with head and neck cancer are more likely to respond to pembrolizumab.
Can the co-localization of CD8+, PD-1, PD-L1 AND PD-L2 patterns provide guidance in clinical outcomes of patients with head and neck cutaneous squamous cell carcinoma?
2025
Brazilian journal of otorhinolaryngology
Bento GN, de Oliveira Santos AB, Matos LL, Faquin WC, Pai SI +1 more
Plain English This study looked at specific immune markers in patients with a type of skin cancer called cutaneous squamous cell carcinoma (cSCC) to see if they could provide insights into treatment effectiveness. The researchers found that various combinations of immune markers were present in most patients: for example, 80% showed co-localization of PD-1 and PD-L1. However, these patterns didn't clearly relate to patient outcomes.
Who this helps: This helps patients with head and neck cSCC by providing insight into potential treatment strategies.
High-Risk HPV Testing in Head and Neck Carcinoma: Key Updates from the 2025 College of American Pathologists Guideline.
2025
Head and neck pathology
Faquin WC, Lewis JS, Beadle B, Bishop JA, Chernock RD +5 more
Plain English The study reviewed updates to guidelines regarding high-risk HPV testing in head and neck cancers, especially a type called squamous cell carcinoma. The 2025 guidelines include 16 recommendations that clarify how HPV testing should be done to better manage and predict outcomes for patients with these cancers. This matters because distinguishing between HPV-related and non-related cases can significantly impact treatment decisions and patient prognosis.
Who this helps: This helps patients with head and neck cancers, as well as their doctors.
Epigenetic therapy sensitizes anti-PD-1 refractory head and neck cancers to immunotherapy rechallenge.
2025
The Journal of clinical investigation
Qin T, Mattox AK, Campbell JS, Park JC, Shin KY +12 more
Plain English This study looked at a new treatment approach for patients with head and neck cancers that haven't responded to standard immunotherapy. Researchers gave a low-dose medication called 5-azacytidine alongside other drugs to see if it could improve the immune response and overall patient survival. They found that 38% of the patients had significant increases in certain immune markers, and the average survival was 16.3 months, with 58% of patients living longer than 12 months after treatment.
Who this helps: This benefits patients with advanced head and neck cancers who have not responded to traditional treatments.
Wizel A, Spence MDA, Mints M, Britton W, Okolo O +10 more
Plain English This study examined a rare type of cancer related to human papillomavirus (HPV) called sinonasal carcinoma, which is different in behavior than similar tumors. Researchers found that a high percentage of cancer cells in this tumor type expressed specific HPV-related genes and MYB genes—83% of these cells showed MYB expression compared to 62% in similar tumors. This connection between HPV and MYB helps explain the cancer's characteristics and could lead to better treatment options in the future.
Who this helps: Patients with HPV-related cancers.
Reversible downregulation of HLA class I in adenoid cystic carcinoma.
2025
Journal for immunotherapy of cancer
Li A, Gonda BL, Codd EM, von Paternos A, Mitchell DR +24 more
Plain English Adenoid cystic carcinoma (ACC) is a deadly cancer that doesn't respond well to current treatments because tumors hide from the immune system—they have very low levels of a protein called HLA class I that the immune system needs to recognize and attack cancer cells. Researchers discovered that treating ACC tumors with immune-activating drugs called STING agonists can turn this protein back on, and when they tested this approach in one patient combined with an existing immunotherapy drug, the tumor shrank by 70%. This finding suggests that turning HLA class I back on with STING agonists could finally make immunotherapy work for ACC patients.
Direct Comparison of Alternative Blood-Based Approaches for Early Detection and Diagnosis of HPV-Associated Head and Neck Cancers.
2025
Clinical cancer research : an official journal of the American Association for Cancer Research
Bryan ME, Aye L, Das D, Hirayama S, Al-Inaya Y +29 more
Plain English Researchers developed a new blood test using advanced DNA sequencing to detect HPV-associated head and neck cancers early, before symptoms appear, and compared it to three other blood-based detection methods. The new sequencing test detected cancer 98.7% of the time it was present and correctly identified healthy people 98.7% of the time—significantly better than existing blood tests. This breakthrough matters because HPV-related head and neck cancers are becoming more common, yet doctors currently have no way to catch them early when treatment is most effective.
Clinical validation of an HPV whole genome sequencing assay for molecular residual disease detection in HPV-associated head and neck cancer patients treated with surgery.
2025
medRxiv : the preprint server for health sciences
Hirayama S, Al-Inaya Y, Bryan ME, Das D, Aye L +19 more
Plain English Researchers developed a highly sensitive blood test that detects tiny amounts of HPV cancer DNA left in patients after surgery for HPV-related head and neck cancer. They found that patients whose blood still contained this cancer DNA had much worse outcomes—only 60% stayed cancer-free for 2 years compared to 100% of patients with no detectable DNA—and this blood test was better at predicting who would relapse than current methods doctors use.
The test could also spot cancer coming back up to 17 months before it shows up on scans or causes symptoms, giving doctors an early warning system to decide whether patients need additional treatment like chemotherapy or radiation.
Update on Salivary Gland Fine-Needle Aspiration and the Milan System for Reporting Salivary Gland Cytopathology.
2024
Archives of pathology & laboratory medicine
Pusztaszeri M, Rossi ED, Faquin WC
Plain English This study focuses on fine-needle aspiration (FNA), a procedure used to diagnose salivary gland issues. Researchers found that the Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) significantly improves the accuracy and consistency of diagnosis, categorizing samples into six groups that help determine cancer risk and treatment options. Since its introduction, the system has been widely accepted and endorsed, enhancing communication between pathologists and doctors, which is crucial for patient care.
Who this helps: This helps patients with salivary gland conditions by ensuring they receive more accurate diagnoses and better treatment plans.
Utility of BRAF V600E immunohistochemistry in the diagnosis of mandibular ameloblastomas.
2024
International journal of oral and maxillofacial surgery
Ji YD, Johnson DN, Faquin WC, Peacock ZS
Plain English This study looked at the effectiveness of a specific test (called BRAF V600E immunohistochemistry) in helping doctors differentiate between three types of jaw lesions: ameloblastomas, odontogenic keratocysts, and dentigerous cysts. The researchers found that 68.2% of the 22 ameloblastoma samples tested positive for BRAF, while none of the 21 samples from the other two types tested positive, indicating the test can be very helpful in making a correct diagnosis. This is important because accurately diagnosing these conditions can lead to better treatment decisions for patients.
Who this helps: This helps patients with jaw lesions by ensuring they receive the correct diagnosis and treatment.
Second edition of the Milan System for Reporting Salivary Gland Cytopathology: Refining the role of salivary gland FNA.
2024
Cancer cytopathology
Rossi ED, Baloch Z, Barkan G, Foschini MP, Kurtycz D +3 more
Plain English This study focuses on updating a system that helps doctors categorize and report on findings from salivary gland tests, called fine-needle aspiration (FNA). The new version, released in July 2023, refines the risks of cancer associated with various findings and adds information on imaging techniques and new testing methods. This is important because it provides clearer guidelines for doctors on how to manage their patients based on these test results.
Who this helps: This benefits patients who need accurate diagnoses and treatment plans for salivary gland conditions.
Second edition of the Milan System for Reporting Salivary Gland Cytopathology: Refining the role of salivary gland FNA.
2024
Cytopathology : official journal of the British Society for Clinical Cytology
Rossi ED, Baloch Z, Barkan G, Foschini MP, Kurtycz D +3 more
Plain English This study looked at the updated guidelines for assessing salivary gland tissue samples to better predict the risk of cancer. The second edition of the Milan System for Reporting Salivary Gland Cytopathology, published in July 2023, updates cancer risk estimates and introduces new imaging techniques and testing methods to improve diagnosis. This matters because it helps doctors make more accurate decisions about treatment options for patients, increasing the chances of better outcomes.
Who this helps: This benefits patients with salivary gland issues and their doctors.
Cytopathology of primary sclerosing mucoepidermoid carcinoma with eosinophilia of the thyroid: a multi-institutional case series and review of literature.
2024
Journal of the American Society of Cytopathology
Lam H, Saoud C, Faquin WC, Mandavilli S, Cibas ES +1 more
Plain English This study looked at a rare thyroid tumor called Sclerosing Mucoepidermoid Carcinoma with Eosinophilia (SMECE) by analyzing 19 cases over several years. They found that this tumor often appears with unique cell clusters and is linked to thyroid inflammation, which can complicate diagnosis. Out of the cases reviewed, 11 were classified as malignant, indicating a need for careful evaluation as some patients had aggressive disease courses.
Who this helps: This information benefits doctors who diagnose and treat thyroid cancer, helping them recognize and manage this rare condition better.
Second edition of the Milan System for Reporting Salivary Gland Cytopathology: Refining the role of salivary gland FNA.
2024
Journal of the American Society of Cytopathology
Rossi ED, Baloch Z, Barkan G, Foschini MP, Kurtycz D +3 more
Plain English The second edition of the Milan System for Reporting Salivary Gland Cytopathology, released in July 2023, updates guidelines for evaluating salivary gland tissues sampled through fine-needle aspiration. It provides clearer information about the risk of cancer based on extensive research, along with new tools for imaging and testing that help doctors better diagnose patients. This matters because it improves how doctors decide on treatments, aiming for better patient outcomes.
Who this helps: This helps doctors and patients dealing with salivary gland issues.
Expanding Our Knowledge ofGene Alterations and Their Role in Thyroid Diseases.
2024
Cancers
Riascos MC, Huynh A, Faquin WC, Nosé V
Plain English This study examined how changes in a specific gene called DICER1 are linked to thyroid diseases, finding that thyroid issues are the most common signs of these mutations. Researchers highlighted that thyroid nodules and certain types of thyroid cancer in infants can indicate a genetic condition called DICER1 syndrome, which raises the risk of other cancers as well. These findings are important because they encourage doctors to perform genetic tests more quickly for patients showing these signs, helping in timely diagnosis and treatment.
Who this helps: Patients with thyroid issues and their doctors.
Updates in head and neck cytopathology: Insights from European Congress of Pathology Short Course.
2024
Cytopathology : official journal of the British Society for Clinical Cytology
Kholová I, Chandra A, Faquin WC, Rupp NJ, Touska P +1 more
Plain English Researchers gathered at the 2023 European Congress of Pathology to discuss new advancements in analyzing cells from head and neck lumps and masses. They talked about important topics like a streamlined clinic process and improved reporting systems for salivary gland tests. These advancements matter because they enhance the accuracy of diagnoses and contribute to personalized treatments for patients.
Who this helps: This benefits doctors and patients with head and neck conditions.
The genomic and evolutionary landscapes of anaplastic thyroid carcinoma.
2024
Cell reports
Zeng PYF, Prokopec SD, Lai SY, Pinto N, Chan-Seng-Yue MA +64 more
Plain English This study focused on understanding the genetic changes in anaplastic thyroid carcinoma, a very aggressive type of thyroid cancer. Researchers analyzed DNA samples from 329 tumors and found that anaplastic thyroid carcinomas have more genetic mutations than other types of thyroid cancer, affecting different genes even in the same patient. This research is important because it reveals the unique genetic makeup of anaplastic thyroid carcinoma, which could help in developing more effective treatments.
Who this helps: This helps patients with thyroid cancer, particularly those facing anaplastic thyroid carcinoma.
A Comparison of Clear Cell Sarcoma to Jaw and Salivary Tumors Bearing EWS Fusions.
2024
Head and neck pathology
Xhori O, Deol N, Rivera CM, Zavras J, Weil SG +8 more
Plain English This study looked at clear cell sarcoma (CCS) and compared it to two other rare tumors found in the jaw and salivary glands that also have similar genetic traits. It was found that all three tumors share certain characteristics, such as having "clear cells" and a specific genetic fusion, and they often affect women with CCS showing symptoms at a slightly younger age. Understanding these similarities helps in diagnosing and treating these tumors more effectively.
Who this helps: Patients suffering from these tumors and their doctors.
Cytologic features of differentiated high-grade thyroid carcinoma: A multi-institutional study of 40 cases.
2024
Cancer cytopathology
Torous VF, Jitpasutham T, Baloch Z, Cantley RL, Kerr DA +8 more
Plain English This study looked at a specific type of thyroid cancer called differentiated high-grade thyroid carcinoma (DHGTC) across 40 cases from six medical centers. Researchers found that the average age of patients with this type of cancer was 64 years, and the tumors were generally large, averaging about 4.9 cm. They discovered that 68% of the cases had high-risk genetic mutations, and over 97% of the samples tested had concerning cytologic features that could indicate a severe cancer type, which is important for guiding patient treatment and management.
Who this helps: This research benefits patients diagnosed with thyroid cancer and their doctors by improving understanding of how to identify and treat aggressive forms of the disease.
Molecular Alterations and Comprehensive Clinical Management of Oncocytic Thyroid Carcinoma: A Review and Multidisciplinary 2023 Update.
2024
JAMA otolaryngology-- head & neck surgery
Bischoff LA, Ganly I, Fugazzola L, Buczek E, Faquin WC +16 more
Plain English This research reviewed oncocytic thyroid carcinoma, a rare type of thyroid cancer that makes up about 5% of all thyroid cancers. The study found that this cancer has unique genetic features and behaves differently than other thyroid cancers, including higher chances of spreading to lymph nodes and not responding well to radioiodine treatment. Recognizing these differences is crucial for creating better treatment plans tailored specifically for patients with oncocytic thyroid carcinoma.
Who this helps: This helps patients with oncocytic thyroid carcinoma and their doctors in managing their treatment effectively.
Thyroid nodules with DICER1 mutation or PTEN alteration: A comparative cytologic, clinical, and molecular study of 117 FNA cases.
2024
Cancer cytopathology
Jitpasutham T, Andrianus S, Gubbiotti M, Nosé V, Baloch ZW +2 more
Plain English This study examined 117 patients with thyroid nodules to understand the differences between those with DICER1 mutations and those with PTEN changes. They found that 30.8% of patients had DICER1 mutations while 69.2% had PTEN alterations. The DICER1 group was mostly younger females, while the PTEN group was generally older with a higher chance of having multiple nodules, and both groups showed similar signs in their thyroid cells but had some distinctive features.
Who this helps: This research benefits patients with thyroid nodules and their doctors by identifying specific genetic risks for thyroid cancer.
GLI1-Altered Mesenchymal Tumors With ACTB or PTCH1 Fusion: A Molecular and Clinicopathologic Analysis.
2024
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
Kerr DA, Cloutier JM, Margolis M, Mata DA, Rodrigues Simoes NJ +9 more
Plain English This research studied a specific type of mesenchymal tumors that have changes in a gene called GLI1. Out of 16 tumors analyzed, 15 had a genetic fusion involving GLI1, with a median age of patients being 40 years, and some tumors had been present for over 10 years. The findings show that these tumors can have a more aggressive nature than previously thought, with half of the patients developing distant metastases, highlighting the need for careful monitoring similar to what is done for sarcomas.
Who this helps: This helps doctors in treating patients with these specific types of tumors.
FNA of Meningioma with Rhabdoid Features Presenting as a Lateral Neck Mass.
2024
Head and neck pathology
Trabzonlu L, Martinez-Lage M, Deschler D, Paly JJ, Faquin WC
Plain English This study examined a rare type of brain tumor called meningioma that appeared as a large lump in the neck of a 26-year-old woman. The researchers found that the fine needle aspiration (FNA) test, which is commonly used to identify lumps, showed signs of the tumor but also revealed complexities due to its unusual features, including a specific protein loss. These findings matter because they highlight the difficulties in diagnosing neck masses correctly and emphasize the need for more tests to ensure accurate identification of such tumors.
Who this helps: This helps doctors and medical professionals who evaluate neck lumps in patients.
Malignant Epithelioid Mesenchymal Neoplasm with FUS::CREM Gene Fusion Arising in the Tongue: A Case Report Detailing Clinicopathological, Imaging, and Molecular Features.
2024
Head and neck pathology
Suaiti LH, Faquin WC, Dias-Santagata D, Deschler DG, Juliano AF +2 more
Plain English This study examined a rare type of cancer in the tongue of a 46-year-old man, which was driven by a specific genetic mutation known as the FUS::CREM fusion. The tumor was about 4 cm in size and displayed aggressive features, although it had not spread to nearby lymph nodes. After surgery and radiation treatment, the patient showed no signs of the cancer returning after four months.
Who this helps: This information is valuable for doctors treating patients with rare head and neck cancers.
Plain English The researchers studied a specific genetic mutation, RAS p.Q61R, in 217 thyroid nodules to see how common it is and how it relates to cancer risk. They found that this mutation appears in a significant percentage of thyroid nodules, but most of the tumors associated with it are low-risk and do not lead to serious health issues. This is important because it shows a reliable and quick way to identify these mutations, helping doctors decide how to monitor and treat patients with thyroid nodules.
Alterations in Thyroid Carcinoma: A Novel Class of Primary Drivers with Significant Therapeutic Implications and Secondary Molecular Events Potentially Mediating Resistance in Thyroid Malignancy.
2024
Thyroid : official journal of the American Thyroid Association
Sabbagh MF, Janovitz T, Dias-Santagata D, Siegmund S, Nardi V +12 more
Plain English Researchers looked at 5,030 thyroid cancer samples and found 17 tumors with mutations in a specific gene family—11 where this mutation was the main cancer driver and 6 where it was a secondary mutation that might help cancer resist treatment. They discovered that some of these mutations could be targeted with existing drugs, but doctors aren't currently looking for them because they're not well-known.
This matters because identifying these mutations in thyroid cancer patients could open up new treatment options that don't work for other types of thyroid cancer, potentially improving outcomes for people who have these specific mutations.
Comparative Analysis of MYB Expression by Immunohistochemistry and RNA Sequencing in Clinical Gene Fusion Detection in Adenoid Cystic Carcinoma.
2024
Head and neck pathology
Fisch AS, Farahani AA, Thierauf J, Iafrate AJ, Lennerz JK +1 more
Plain English Researchers tested 35 tumors called adenoid cystic carcinomas to see which method best detects a cancer-driving gene called MYB. They compared four different antibody tests (which look for the MYB protein under a microscope) against a genetic sequencing test (which detects MYB gene fusions directly). They found that the antibody tests gave wildly different results depending on which one was used—ranging from catching 26% to 97% of cases—while genetic sequencing found the MYB problem in 54% of cases.
This matters because doctors need reliable tests to diagnose this cancer type and guide treatment, but the results showed that the antibody tests are inconsistent and don't always match what the genetic test finds, meaning doctors need to be careful about which test they choose and may need to combine multiple tests to get accurate results.
Thyroblastoma: A DICER1-associated embryonal neoplasm and fine needle aspiration diagnostic criteria.
2023
Diagnostic cytopathology
Jitpasutham T, Faquin WC, Torous VF, Nosé V
Plain English This study looked at thyroblastoma, a rare and aggressive type of thyroid cancer linked to a genetic change called the DICER1 mutation. The researchers examined a case involving a 19-year-old woman with a fast-growing thyroid lump and found that the cells in her biopsy were very abnormal and grouped in unusual patterns, which helps clarify how to distinguish thyroblastoma from other thyroid tumors. Understanding these characteristics is crucial for diagnosing this cancer properly and ensuring patients receive the right treatment.
Who this helps: This helps doctors and patients facing thyroid tumors.
Plain English This study looked at a unique case of synovial chondromatosis (SC) affecting the jaw joint, which had caused a hole in the skull base. The researchers treated a 34-year-old man using a minimally invasive technique, avoiding traditional open surgery, and successfully relieved his symptoms. This approach not only made the surgery safer and less invasive but also completed all necessary repairs through small incisions, which is important for patient recovery and outcomes.
Who this helps: This benefits patients with similar conditions needing treatment for jaw issues without major surgeries.
Inferring early genetic progression in cancers with unobtainable premalignant disease.
2023
Nature cancer
Leshchiner I, Mroz EA, Cha J, Rosebrock D, Spiro O +7 more
Plain English This study focuses on how to understand the early genetic changes that happen in certain cancers, specifically when tissue samples from precancerous stages are not available. Researchers developed a method called PhylogicNDT, which allowed them to reconstruct the genetic progression of HPV-negative head and neck cancers and discover new genetic changes in HPV-positive cases. They found that specific mutations occurred years before a cancer was diagnosed, and that more genetic variation within tumors was linked to worse outcomes for patients.
Who this helps: This research benefits cancer patients and doctors by improving early detection and treatment strategies.
Plain English This study looked at 12 rare tumors found in the thyroid gland, primarily in patients aged 28 to 84. Researchers found that these tumors included types like hemangiomas and angiosarcomas, with an average tumor size of about 3.3 cm. Only 60% of the cases were accurately diagnosed through initial tests, highlighting how tricky it can be to identify these tumors correctly.
Who this helps: This research is beneficial for doctors diagnosing thyroid tumors and guiding treatment for patients.
Assessing PD-L1 Expression in Head and Neck Squamous Cell Carcinoma: Trials and Tribulations.
2023
Head and neck pathology
Bill R, Faquin WC, Pai SI
Plain English This study looked at how measuring a protein called PD-L1 in head and neck cancers can help doctors decide on the best treatment for patients. It found that PD-L1 levels are a key indicator of how well patients might respond to certain cancer drugs, specifically PD-1 blockers, with patients showing higher PD-L1 expression having better outcomes. Understanding PD-L1 expression is important because it can guide treatment choices and improve patient care.
Who this helps: Patients with head and neck squamous cell carcinoma.
macrophage polarity identifies a network of cellular programs that control human cancers.
2023
Science (New York, N.Y.)
Bill R, Wirapati P, Messemaker M, Roh W, Zitti B +28 more
Plain English This research examined the environments around tumors in 52 patients with head and neck cancers to see how they affect cancer growth and patient outcomes. It found that the way a type of immune cell, called macrophages, behaves (specifically referenced as CS macrophage polarity) is strongly linked to how well patients do, helping to identify either factors that promote or fight against tumors. This matters because understanding these behaviors can improve treatment strategies for cancer.
Who this helps: Patients with head and neck cancers.
Correlation of Intraoperative Ultrasonographic Oral Tongue Shape and Border and Risk of Close Margins.
2023
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
Au VH, Yoon BC, Juliano A, Sadow PM, Faquin WC +1 more
Plain English The study looked at how intraoperative ultrasound (IOUS) images can help during surgery for oral tongue cancers by examining the shape and boundaries of the tumors. Out of 29 patients, the researchers found that while the ultrasound patterns didn't strongly correlate with the final tissue analysis, an infiltrative pattern seen on ultrasound was linked to a higher risk of close surgical margins, which can mean incomplete removal of the cancer. This is important because having close margins can lead to a higher chance of cancer recurrence.
Who this helps: This helps patients undergoing surgery for oral tongue cancers.
Fluorescence lifetime of injected indocyanine green as a universal marker of solid tumours in patients.
2023
Nature biomedical engineering
Pal R, Lwin TM, Krishnamoorthy M, Collins HR, Chan CD +25 more
Plain English Researchers injected a near-infrared dye called indocyanine green into cancer patients and found that cancer cells glow differently than healthy cells when measured by how long the glow lasts (rather than how bright it is). This difference in glow duration remained consistent across different cancer types and could identify tumors with over 97% accuracy, even at the cellular level.
This matters because current surgical imaging techniques rely on brightness, which varies depending on how much dye the tumor absorbed and how deep it is in the body—making it hard to distinguish cancer from healthy tissue. Since the glow duration is a stable property of the dye itself, it could help surgeons more reliably spot and remove all cancerous tissue during operations.
Molecular Evidence for Olfactory Neuroblastoma as a Tumor of Malignant Globose Basal Cells.
2023
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
Zunitch MJ, Fisch AS, Lin B, Barrios-Camacho CM, Faquin WC +8 more
Plain English Researchers studied a type of nasal cancer called olfactory neuroblastoma (ONB) and found that it is linked to a specific group of stem cells in the nose. They discovered unique markers in ONB that can help distinguish it from similar cancers, which is important for accurate diagnosis. This work is significant because it opens the door to new treatment options targeting the specific cells involved in this cancer, potentially leading to better outcomes for patients.
A Comprehensive Study on the Diagnosis and Management of Noninvasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features.
2023
Thyroid : official journal of the American Thyroid Association
Alzumaili BA, Krumeich LN, Collins R, Kravchenko T, Ababneh EI +8 more
Plain English Researchers studied a type of thyroid tumor called noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) to better understand its diagnosis and treatment. They found that NIFTP rarely led to cancer recurrence after surgery, but the way it was diagnosed often varied, leading to uncertainty in treatment decisions. This highlights the need for clearer guidelines for managing these borderline tumors, which can help doctors take more consistent and effective actions for their patients.
Single-cell RNA sequencing identifies a paracrine interaction that may drive oncogenic notch signaling in human adenoid cystic carcinoma.
2022
Cell reports
Parikh AS, Wizel A, Davis D, Lefranc-Torres A, Rodarte-Rascon AI +10 more
Plain English This study looked at a rare type of cancer called salivary adenoid cystic carcinoma (ACC) and found important differences in how its cells communicate with each other. By analyzing individual cells, researchers discovered that certain signaling molecules (DLL1, JAG1, and JAG2) are expressed differently in cancer cells, which may drive tumor growth. These findings can help develop new treatments for ACC and enhance understanding of its unique characteristics.
Who this helps: This helps patients with salivary adenoid cystic carcinoma and their doctors.
Plain English Researchers reviewed which molecular changes in pre-cancerous mouth and throat lesions can predict which patients will develop cancer. They identified dozens of biological markers—including those controlling cell growth, cell death, and how cells stick together—that show up in these lesions and indicate whether cancer is likely to develop. Finding these markers matters because doctors could use them to identify high-risk patients early and treat them more aggressively, potentially saving lives from head and neck cancers that currently have survival rates below 70%.