A S Fisch studies tumors in the female reproductive system and the head and neck area. They work on identifying rare and complex tumors, such as those associated with DICER1 and unique ovarian neoplasms. Their research also delves into how certain tumors evade treatment and explores new blood tests for early detection and monitoring of cancers, including those not linked to the HPV virus. This research is relevant for patients experiencing gynecologic issues or head and neck cancers, especially those who may have inherited genetic risks or are undergoing treatment for recurrent issues.
Key findings
PAX8-negative, SOX17-positive adnexal endometrioid carcinomas show common CTNNB1 alterations, aiding accurate diagnosis and treatment plans.
In 15 cases of DICER1-related tumors, patients' ages ranged from 10 to 77, highlighting the importance of recognizing these tumors for diagnosis and genetic testing.
Circulating tumor DNA tests indicate that the presence of tumor DNA in HPV-independent head and neck cancers correlates with a significantly shorter survival time.
A blood test that detects HPV DNA can identify oropharyngeal cancer up to 10 years before traditional diagnosis methods, improving early detection efforts.
About 2.5% of patients treated for HPV-associated throat cancer developed secondary malignancies, suggesting the need for long-term monitoring.
Frequently asked questions
Does Dr. Fisch study ovarian cancer?
Yes, Dr. Fisch studies various types of ovarian tumors, including unique or rare forms that can be easily misdiagnosed.
What treatments has Dr. Fisch researched?
Dr. Fisch has researched the efficacy of blood tests in detecting residual cancer after treatment, as well as strategies to overcome treatment resistance in head and neck cancers.
Is Dr. Fisch's work relevant to patients with HPV-positive cancers?
Yes, Dr. Fisch's research includes significant findings related to HPV-positive head and neck cancers and how to monitor for recurrence effectively.
What role does genetic testing play in Dr. Fisch's studies?
Dr. Fisch's studies often utilize genetic testing to improve the diagnosis and treatment of tumors, particularly in identifying hereditary risks in younger patients.
Can Dr. Fisch's research help in early cancer detection?
Yes, their work focuses on developing blood tests that can detect certain cancers early, which is crucial for improving treatment outcomes.
Publications in plain English
Incidence of HPV-independent second primary malignancies following treatment of HPV-associated malignancy.
2026
Oral oncology
Nyirjesy SC, Al-Inaya Y, Zhang S, Karadaghy OA, Lin DT +6 more
Plain English Researchers looked at patients who had already been treated for a type of throat cancer linked to HPV to see if they developed other types of head and neck cancers that were not connected to HPV. They found that about 2.5% of patients did develop these second cancers years later, often in different areas of the mouth or throat, and many had received radiation and chemotherapy for their first cancer. This is important because it shows that these new cancers can have different causes than the original one, suggesting that doctors should monitor these patients long-term and consider retesting for HPV.
Prognostic Value of Tumor-Informed Circulating Tumor DNA in HPV-Independent Head and Neck Squamous Cell Carcinoma.
2026
JAMA otolaryngology-- head & neck surgery
Ruiz-Torres DA, Roberts TJ, Du P, Mendel J, Neagele S +13 more
Plain English Researchers examined a blood test that detects tumor DNA in patients with a specific type of head and neck cancer that doesn't involve HPV. They found that when the test showed positive results after treatment, it indicated a higher chance of cancer recurrence and lower survival rates. This finding is important because it suggests that this blood test could help doctors identify patients at greater risk after treatment, potentially leading to more tailored monitoring and care.
Prognostic value of tumor-informed ctDNA in HPV-independent head and neck squamous cell carcinoma.
2026
medRxiv : the preprint server for health sciences
Ruiz-Torres DA, Roberts TJ, Du P, Mendel J, Neagele S +13 more
Plain English Researchers studied a blood test that detects tiny amounts of tumor DNA in patients with a specific type of throat cancer that is not linked to HPV. They found that when this DNA was present, patients were more likely to experience a recurrence of their cancer and had a shorter survival time. This finding is important because it suggests that this blood test could help doctors predict outcomes and make better treatment decisions for patients with this type of cancer.
Tumor microenvironment-driven immune evasion and therapeutic strategies in head and neck squamous cell carcinoma.
2026
Current opinion in oncology
Tinhofer I, Fisch AS
Plain English Researchers studied head and neck squamous cell carcinoma, a type of cancer that grows in a unique environment that helps it evade the immune system. They found that this environment creates barriers that make existing therapies less effective. Understanding these barriers can help develop new treatment strategies that target the tumor environment, potentially improving outcomes for patients with this type of cancer.
DICER1-Related Primitive Polyphenotypic Neoplasm: A Report of 15 Cases of an Underrecognized Tumor of the Gynecologic Tract and Peritoneum.
2026
The American journal of surgical pathology
Devins KM, Lin LH, Fisch AS, Dias-Santagata D, Pinto A +3 more
Plain English Researchers studied a rare type of tumor called DICER1-related primitive polyphenotypic neoplasm, which can occur in the female reproductive system and abdomen. They found 15 cases of this tumor in patients aged 10 to 77, with many showing specific cell features that made them difficult to identify. Understanding these tumors is important because recognizing their unique characteristics can lead to better diagnosis and genetic testing, especially for younger patients who may have inherited risks.
Adnexal Endometrioid Carcinomas With Sex Cord-Like Morphology are Frequently PAX8-Negative, SOX17-Positive, and Enriched for CTNNB1 Alterations.
2026
The American journal of surgical pathology
Lengyel K, Musick A, Fisch AS, Lin LH, Turashvili G +3 more
Plain English Researchers studied a type of ovarian and fallopian tube cancer with a unique appearance. They found that these tumors often lack a specific marker (PAX8) that is usually present in other cancers, but they commonly express another marker (SOX17) and have mutations in a gene (CTNNB1) that affect cell behavior. This understanding is important because it helps doctors correctly identify these tumors, preventing misdiagnosis and ensuring patients receive the right treatment.
Circulating tumor human papillomavirus DNA whole genome sequencing enables human papillomavirus-associated oropharynx cancer early detection.
2026
Journal of the National Cancer Institute
Das D, Hirayama S, Aye L, Bryan ME, Naegele S +14 more
Plain English Researchers developed a blood test that detects HPV cancer DNA years before oropharyngeal cancer (a common throat cancer) develops, finding the virus DNA in 79% of patient blood samples taken up to 7.8 years before diagnosis, while showing no false positives in healthy people. Using advanced computer analysis, they improved the test to detect the cancer signal in 96% of cases up to 10 years before symptoms appear. This discovery could enable doctors to catch this aggressive cancer much earlier, when treatment is more likely to succeed and causes less harm.
High Ano1 expression as key driver of resistance to radiation and cisplatin in HPV-negative head and neck squamous cell carcinoma.
2025
Scientific reports
Bourdier S, Fisch AS, Alp KM, Das R, Mertins P +1 more
Plain English Researchers studied head and neck cancer that doesn't have the HPV virus, focusing on two genes known to affect treatment response. They found that a gene called Ano1 is linked to poorer survival rates and makes these cancer cells more resistant to common treatments like radiation and chemotherapy. This is important because understanding how Ano1 drives treatment resistance can help doctors develop better treatment options for patients with this type of cancer.
Personalized circulating tumor DNA dynamics predict survival and response to immune checkpoint blockade in recurrent/metastatic head and neck cancer.
2025
medRxiv : the preprint server for health sciences
Ruiz-Torres DA, Merkin RD, Bryan M, Mendel J, Efthymiou V +11 more
Plain English Researchers studied how changes in blood samples containing tumor DNA could help predict how well patients with advanced head and neck cancer respond to treatment and how long they might live. They found that when patients had lower levels of this tumor DNA during treatment, they were more likely to respond positively and have better survival rates. This is important because using this DNA information could help doctors make better treatment decisions, potentially improving outcomes for patients.
Targeting Chk1 and Wee1 kinases enhances radiosensitivity of 2D and 3D head and neck cancer models to X-rays and low/high-LET protons.
2025
Cell death & disease
Melia E, Fisch AS, Tinhofer I, Parsons JL
Plain English Researchers studied the effects of blocking certain proteins, Chk1 and Wee1, on head and neck cancer cells when treated with radiation. They found that using inhibitors of these proteins makes the cancer cells more sensitive to radiation, improving the chances of killing the cancer. This approach could make cancer treatments more effective by combining it with existing radiation therapies.
High-Grade Uterine Sarcoma: First Report of a MEIS2::FOXO4 Fusion.
2025
Genes, chromosomes & cancer
Turashvili G, Choy E, Fisch AS, Oliva E
Plain English Researchers studied a rare type of uterine cancer called high-grade uterine sarcoma and discovered a new gene fusion (MEIS2::FOXO4) in a patient. This finding, which hasn’t been reported before in uterine sarcomas, shows the importance of analyzing the genetic makeup of these tumors, especially when they appear unusual. Understanding these genetic changes can help improve diagnosis and treatment for patients with rare cancers.
Adult Granulosa Cell Tumors of the Ovary With Tubular Differentiation: A Report of 80 Examples of an Underemphasized Feature With Clinicopathologic and Genomic Differences From Other Sex Cord-Stromal Tumors.
2025
The American journal of surgical pathology
Ray LJ, Young RH, Sabbagh MF, Fisch AS, Oliva E +1 more
Plain English Researchers studied a specific type of ovarian tumor known as adult granulosa cell tumors (AGCT) that showed features resembling both female and male cell types. They examined 80 cases and found that while these tumors primarily displayed characteristics typical of AGCT, they also contained unique tubular structures, which is unusual. This finding is significant because it helps clarify how these tumors are classified and suggests they may represent a distinct group, aiding in better diagnosis and treatment for patients.
MicroRNA-mediated PTEN downregulation as a novel non-genetic mechanism of acquired resistance to PI3Kα inhibitors of head & neck squamous cell carcinoma.
2025
Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy
Pulito C, Vaccarella S, Palcau AC, Ganci F, Brandi R +23 more
Plain English Researchers studied why some head and neck cancers stop responding to a type of treatment called PI3Kα inhibitors. They discovered that certain tiny molecules called microRNAs are responsible for lowering the levels of a protein called PTEN, which helps cells respond to the treatment. This finding is important because it points to new ways to overcome resistance to the treatment by targeting PTEN and related proteins, potentially improving outcomes for patients with these cancers.
GLI1-Altered Tumors of the Ovary: A Report of 4 Cases of an Underrecognized Neoplasm That May Mimic Sex Cord-Stromal Tumors.
2025
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
Devins KM, Fisch AS, Young RH, Dias-Santagata D, Oliva E
Plain English Researchers studied four unusual ovarian tumors with specific genetic changes, finding that they were often mistakenly identified as other types of tumors. All cases shared distinct physical characteristics and genetic markers that set them apart. This matters because recognizing these tumors correctly can improve diagnosis and treatment options for patients, as they may not respond the same way as more common tumor types.
Personalized circulating tumor DNA dynamics inform survival and response to immune checkpoint blockade in recurrent/metastatic head and neck cancer.
2025
NPJ precision oncology
Ruiz-Torres DA, Merkin RD, Bryan ME, Mendel J, Efthymiou V +11 more
Plain English Researchers studied patients with a severe type of head and neck cancer that often comes back or spreads. They found that monitoring a specific marker in the blood, known as circulating tumor DNA (ctDNA), can help predict how well patients will respond to treatment and how long they might live. This is important because it offers a new way to tailor treatments to individual patients, potentially improving their chances of survival and minimizing side effects from ineffective therapies.
Pleomorphic Adenoma with Epithelial Atypia, Apocrine Metaplasia, and/or In situ/Intracapsular Salivary Duct Carcinoma Are Indolent Lesions with Good Prognosis: A Proposal for Unified Nomenclature and Clinical Observation.
2025
Head and neck pathology
Cole GG, Levin M, Ferber D, Roark SC, Sadow PM +8 more
Plain English Researchers studied different types of tumors found in the salivary glands, specifically looking at certain benign and early-stage cancerous lesions linked to a condition called pleomorphic adenoma. They found that many of these lesions, even with some unusual cell features, do not lead to recurrence or spread of cancer if they remain contained within the tumor. This is important because it suggests that some terms used to describe these lesions might cause unnecessary worry and treatment, and simpler names that reflect their generally harmless nature could be more appropriate.
From Smear to Sequence: Using Thyroid Cytology Smear Slides for ThyroSeq Molecular Analysis and Clinicopathologic Insights From 61 Tested Nodules.
2025
Archives of pathology & laboratory medicine
Trabzonlu L, Elliott C, Fisch AS, Chebib IA, Madrigal E
Plain English Researchers looked at using thyroid cytology smear slides, which are typically used for diagnosing thyroid nodules, for more advanced genetic testing called ThyroSeq. They found that these slides were mostly good enough for DNA analysis, identifying gene mutations and other genetic changes in nearly a third of the tested samples. This is important because it offers a way to gather crucial information about thyroid nodules without needing extra sample procedures, making diagnosis and treatment more efficient.
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.
Utility of an anchored multiplex polymerase chain reaction-based fusion assay for diagnosis of soft tissue tumors in cytology.
2024
Cancer cytopathology
Helland TL, Fisch AS, Chebib I
Plain English Researchers examined a method to improve the diagnosis of soft tissue tumors using fine-needle aspiration samples, which can be tricky due to limited tissue. They found that a specific gene test identified tumors in about 29% of cases, providing crucial information in several instances about the type and spread of the disease. This method can enhance the accuracy of diagnosing these tumors, helping doctors make better treatment decisions.
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.
Angiomyolipomatous Lesions of the Nasal Cavity (Sinonasal Angioleiomyoma with Adipocytic Differentiation): A Multi-Institutional Immunohistochemical and Molecular Study.
2024
Research square
Jones VM, Thompson LDR, Pettus JR, Green DC, Lefferts JA +8 more
Plain English Researchers looked into rare growths in the nasal cavity that have features of blood vessels, smooth muscle, and fat cells. They found that most of these lesions occurred in older men and often caused nasal blockage, but they generally didn't come back after treatment. This study is important because it clarifies how to classify these unusual growths, which can help doctors better understand and manage them.
Angiomyolipomatous Lesions of the Nasal Cavity (Sinonasal Angioleiomyoma with Adipocytic Differentiation): A Multi-Institutional Immunohistochemical and Molecular Study.
2024
Head and neck pathology
Jones VM, Thompson LDR, Pettus JR, Green DC, Lefferts JA +8 more
Plain English Researchers studied rare growths in the nasal cavity that contain blood vessels, smooth muscle, and fat tissue. They found that these growths often occur in older men and typically cause blockage or other symptoms, with most not recurring after removal. This is important because understanding the nature of these growths can help doctors accurately identify and treat similar conditions in the future.
Feasibility analysis of using patient-derived tumour organoids for treatment decision guidance in locally advanced head and neck squamous cell carcinoma.
2024
European journal of cancer (Oxford, England : 1990)
Fisch AS, Pestana A, Sachse V, Doll C, Hofmann E +9 more
Plain English Researchers studied how to use small lab-grown versions of tumors, called organoids, taken from patients with advanced head and neck cancer to help select the best treatments for them. They found that nearly 77% of suitable tumor samples could be successfully grown into organoids, which could then be tested for their response to different therapies. This approach could lead to better treatment decisions and potentially improve survival for patients facing this aggressive cancer.
Multinucleated tumor cells and micropapillary morphology appear to be predictors of poor prognosis in renal cell carcinoma with papillary and oncocytic features.
2024
Human pathology
Zhao T, Denize T, Wang H, Fisch AS, Wu S +2 more
Plain English Researchers studied a type of kidney cancer known as renal cell carcinoma with papillary and oncocytic features (RCC-PO) to better understand how certain tumor characteristics affect patient outcomes. They found that specific features like micropapillary structures and multinucleated tumor cells are linked to a higher risk of disease spread and worse survival rates. This matters because identifying these features can help doctors predict which patients might have a more aggressive form of the disease and guide treatment decisions.
Das D, Hirayama S, Aye L, Bryan ME, Naegele S +13 more
Plain English Researchers developed a blood test that can detect a common cancer caused by HPV (the virus linked to cervical cancer) years before symptoms appear—up to 10 years early in some cases. The test works by finding tiny pieces of HPV DNA floating in the bloodstream, which the cancer releases long before the disease becomes noticeable.
When they tested blood samples taken years before patients were actually diagnosed with cancer, the test caught 79% of future cancer cases while giving zero false alarms in healthy people. Using artificial intelligence to analyze the blood samples improved detection even further, catching 96% of cases.
This matters because unlike cervical cancer, there's currently no screening test for this type of HPV-related throat cancer—the most common HPV cancer in America. A blood test that finds it a decade early could save lives by catching cancer when it's easiest to treat.
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.
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.
Effectors Enabling Adaptation to Mitochondrial Complex I Loss in Hürthle Cell Carcinoma.
2023
Cancer discovery
Gopal RK, Vantaku VR, Panda A, Reimer B, Rath S +16 more
Plain English Researchers studied a type of thyroid cancer called Hürthle cell carcinoma, which has specific genetic changes that affect energy production in cells. They discovered that these cancer cells are particularly vulnerable to stress from certain harmful molecules due to their genetic makeup. This finding is important because it could lead to new treatments that target this weakness, potentially improving outcomes for patients with this type of cancer.
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors.
2023
The Journal of molecular diagnostics : JMD
Tsai HK, Gogakos T, Lip V, Tsai JM, Li YD +16 more
Plain English The researchers studied different gene forms in blood-related cancers to see how they could help predict the severity and type of the disease. They found that certain unusual gene expressions were very effective at identifying significant genetic changes linked to worse or better outcomes in patients. This matters because it can improve how doctors classify these cancers and determine the best treatment strategies for patients based on their genetic profiles.
Prognostic biomarkers for survival in mucosal melanoma.
2023
Pigment cell & melanoma research
Thierauf JC, Kaluziak ST, Codd E, Dybel SN, Jobbagy S +10 more
Plain English Researchers studied 39 patients with mucosal melanoma (a rare and deadly cancer that grows in the mouth, nose, or other internal surfaces) to identify which patients would survive longer or shorter after diagnosis. They found that patients whose tumors lacked pigmentation (color) and those carrying specific genetic mutations (NRAS or KRAS) died significantly sooner than other patients.
This matters because doctors now have two concrete warning signs that tell them which mucosal melanoma patients need more aggressive treatment and closer monitoring—information that was previously unknown for this type of cancer.
Special Considerations in the Molecular Diagnostics of Pediatric Neoplasms.
2022
Clinics in laboratory medicine
Fisch AS, Church AJ
Plain English The study looks at how to better diagnose and treat cancers in children, which have different genetic features compared to adult cancers. It finds that children's tumors often have specific genetic changes that can affect how we understand and treat these cancers. This is important because developing accurate testing methods tailored for pediatric patients can lead to more effective treatments and better outcomes for young cancer patients.
Identification of EWSR1-NFATC2 fusion in simple bone cysts.
2021
Histopathology
Hung YP, Fisch AS, Diaz-Perez JA, Iafrate AJ, Lennerz JK +6 more
Plain English The researchers studied simple bone cysts, which are non-cancerous growths in the bones of younger people, to better understand their genetic features. They found that some of these cysts contain specific genetic changes, namely EWSR1-NFATC2 fusions, which are typically associated with more aggressive tumors. This discovery is important because it helps differentiate simple bone cysts from other potentially harmful conditions and highlights that not all genetic changes signify cancer.
Intraductal carcinoma of the salivary gland with NCOA4-RET: expanding the morphologic spectrum and an algorithmic diagnostic approach.
2021
Human pathology
Fisch AS, Laklouk I, Nakaguro M, Nosé V, Wirth LJ +4 more
Plain English Researchers studied a type of salivary gland cancer called intraductal carcinoma (IC) that has a specific genetic change known as NCOA4-RET. They found that this variant of IC can look similar to another cancer type, making it easy to misdiagnose. This is important because accurately identifying these cancers can lead to better treatment options for patients.
Undifferentiated Embryonal Sarcoma of the Liver With Rhabdoid Morphology Mimicking Carcinoma: Expanding the Morphologic Spectrum or a Distinct Variant?
2021
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Papke DJ, Fisch AS, Ranganathan S, O'Neill A, Breen M +3 more
Plain English Researchers studied a rare liver tumor called undifferentiated embryonal sarcoma of the liver (UESL), which mostly affects children. They found a case in a 5-year-old boy where the tumor looked like a different type of cancer but had specific genetic characteristics that confirmed it was UESL. This matters because recognizing these unique features can improve diagnosis and treatment for young patients with similar tumors.
Pan-sarcoma genomic analysis of KMT2A rearrangements reveals distinct subtypes defined by YAP1-KMT2A-YAP1 and VIM-KMT2A fusions.
2020
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
Massoth LR, Hung YP, Nardi V, Nielsen GP, Hasserjian RP +16 more
Plain English Researchers studied a type of cancer called sarcoma, specifically looking for genetic changes known as KMT2A fusions. They discovered that these fusions often lead to different subtypes of sarcomas, mostly affecting younger adults and exhibiting specific characteristics under the microscope. This finding is important because it helps doctors better understand these rare cancers, potentially improving diagnosis and treatment options for patients.
Clinical sensitivity and interpretation of PCR and serological COVID-19 diagnostics for patients presenting to the hospital.
2020
FASEB journal : official publication of the Federation of American Societies for Experimental Biology
Miller TE, Garcia Beltran WF, Bard AZ, Gogakos T, Anahtar MN +31 more
Plain English The researchers studied two common COVID-19 tests, PCR and serology, to see how well they work at different stages of the illness in patients at the hospital. They found that the PCR test is very accurate early on but becomes less effective as time passes, while the serology test becomes more accurate over time. This is important because it helps doctors understand when to use each test to get the best results for diagnosing COVID-19.
Genetic Variation in the Platelet Endothelial Aggregation Receptor 1 Gene Results in Endothelial Dysfunction.
2015
PloS one
Fisch AS, Yerges-Armstrong LM, Backman JD, Wang H, Donnelly P +9 more
Plain English Researchers studied a gene called PEAR1 to understand its role in how blood vessels function. They found that certain genetic variations in PEAR1 can affect the ability of blood vessels to expand and contract, which is crucial for good heart health. This matters because it helps explain how genetic differences can influence the risk of cardiovascular diseases.
Pharmacogenomics of anti-platelet and anti-coagulation therapy.
2013
Current cardiology reports
Fisch AS, Perry CG, Stephens SH, Horenstein RB, Shuldiner AR
Plain English This research looks at how people respond differently to blood-thinning medications used to prevent heart attacks and strokes. The study found that genetic factors can significantly influence how well these drugs work for each person. Understanding these genetic differences can help doctors provide more personalized and effective treatment for patients.
Paraoxonase 1 (PON1) gene variants are not associated with clopidogrel response.
2011
Clinical pharmacology and therapeutics
Lewis JP, Fisch AS, Ryan K, O'Connell JR, Gibson Q +9 more
Plain English Researchers looked at a specific gene variant in a group of patients to see if it affected how well a heart medication called clopidogrel worked. They found no evidence that this gene variant influenced the drug's effectiveness or related health outcomes. This matters because it suggests that the PON1 gene variant is not a factor in how patients respond to clopidogrel, which can help healthcare providers better understand treatment options.
Adam S Fisch Daniel L Faden A John Iafrate Julia Mendel William C Faquin Peter M Sadow Vasileios Efthymiou Jeremy D Richmon Lori J Wirth Jochen K Lennerz
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Plain-English summaries generated by AI.
Not medical advice.