A5090921200- Cancer Genomics and Diagnostics
- Endometrial and Cervical Cancer Treatments
- Genetic factors in colorectal cancer
- Cancer-related molecular mechanisms research
- Sarcoma Diagnosis and Treatment
- Ovarian cancer diagnosis and treatment
- Gestational Trophoblastic Disease Studies
- Soft tissue tumor case studies
- IgG4-Related and Inflammatory Diseases
- Neuroendocrine Tumor Research Advances
- Uterine Myomas and Treatments
- Parvovirus B19 Infection Studies
- Histiocytic Disorders and Treatments
- Genomics and Rare Diseases
- Cervical Cancer and HPV Research
- Renal cell carcinoma treatment
- Viral-associated cancers and disorders
- MicroRNA in disease regulation
- Chromatin Remodeling and Cancer
- Cancer Immunotherapy and Biomarkers
- Tuberous Sclerosis Complex Research
- Liver Disease and Transplantation
- Cardiac tumors and thrombi
- HER2/EGFR in Cancer Research
- Economic and Financial Impacts of Cancer
Stanford University
2017-2024
Merck & Co., Inc., Rahway, NJ, USA (United States)
2024
Memorial Sloan Kettering Cancer Center
2021-2024
New York University
2021-2023
NYU Langone Health
2023
College of American Pathologists
2018-2022
University of British Columbia
2021
Phoenix VA Health Care System
2021
Stanford Medicine
2017-2020
Philadelphia University
2018
Abstract Purpose: Microsatellite instability–high (MSI-H) endometrial carcinomas are underpinned by distinct mechanisms of DNA mismatch repair deficiency (MMR-D). We sought to characterize the clinical and genetic features MSI-H cancers harboring germline or somatic mutations in MMR genes MLH1 promoter hypermethylation (MLH1ph). Experimental Design: Of > 1,100 patients with cancer that underwent tumor-normal sequencing, 184 had due MLH1ph, harbored pathogenic mutations....
We characterized a prospective endometrial carcinoma (EC) cohort containing 138 tumors and 20 enriched normal tissues using 10 different omics platforms. Targeted quantitation of two peptides can predict antigen processing presentation machinery activity, may inform patient selection for immunotherapy. Association analysis between MYC activity metformin treatment in both patients cell lines suggests potential role non-diabetic with elevated activity. PIK3R1 in-frame indels are associated AKT...
As inflammatory myofibroblastic tumors (IMTs) have become more widely recognized in the female genital tract, an intriguing subset of uterine associated with pregnancy has emerged. Whether IMTs occurring setting are clinically or biologically distinct from other is unknown. Furthermore, little known about perinatal factors that may influence development these tumors. Here, we report largest case series 8 pregnancy-associated IMTs. All this occurred association complications, including...
Smooth muscle tumor of uncertain malignant potential (STUMP) is a rare diagnosis rendered when there uncertainty concerning the biological smooth tumor. The initial differential often broad, as tumors in this subgroup are morphologically heterogenous. Recent data suggest uterine inflammatory myofibroblastic (IMTs) with anaplastic lymphoma kinase (ALK) rearrangement may be misclassified STUMPs, but extent to which occurs has not been examined. We identified 60 female patients previously...
Uterine sarcomas with variable CD34 and S100 expression represent an emerging class of tumor in the female genital tract which commonly presents endocervix premenopausal women. Initial molecular characterization identified NTRK1 NTRK3 gene fusions as oncogenic drivers these tumors; however, repertoire genetic alterations is likely more diverse given recent discovery PDGFB RET similarly described tumors. Importantly, fusion events lead to aberrant activation kinases that are potentially...
Next-generation sequencing-based assays are being increasingly used in the clinical setting for detection of somatic variants solid tumors, but limited data available regarding interlaboratory performance these assays.To examine proficiency testing from initial College American Pathologists (CAP) Next-Generation Sequencing Solid Tumor survey to report on laboratory performance.CAP results 111 laboratories were analyzed accuracy and associated assay characteristics.The overall observed all...
Determining the replicative DNA polymerase epsilon ( POLE) mutation status in endometrial carcinomas (ECs) has important clinical implications given that majority of "ultramutated" tumors harboring pathogenic exonuclease domain mutations POLE mut) have a favorable prognosis, even among high-grade histotypes. Currently, there are no specific morphologic or immunophenotypic features allow accurate detection mut without molecular testing. Consequently, identifying been challenging employing...
Ovarian serous borderline tumors (SBTs) have a generally favorable prognosis. Although the risk of progression to low-grade carcinoma is well documented, high-grade rare. We report clinicopathologic features seven SBTs, each associated with presence morphologically unique component an extremely dismal All SBTs exhibited typical hierarchical branching and scattered eosinophilic cells, whereas consisted profuse proliferation epithelioid cells abundant dense, cytoplasm, variable nuclear...
Neoplastic cellularity assessment has become an essential component of molecular oncology testing; however, there are currently no best practice recommendations or guidelines for this potentially variable step in the testing process.To describe domestic and international practices neoplastic to determine how variations laboratory affect accuracy.Data were derived from 57 US laboratories that participated 2019 College American Pathologists Cellularity Proficiency Testing Survey (NEO-B 2019)....
Fumarate hydratase-deficient leiomyomas (dFH leiomyomas) often display atypical pathologic features yet exhibit a benign clinical course. Recent data suggest that dFH may be misclassified as smooth muscle tumors of uncertain malignant potential, category encompasses heterogenous subgroup uterine neoplasms with differentiation and impart ambiguity regarding their expected behavior. can seen in the context hereditary leiomyomatosis renal cell carcinoma syndrome or sporadic setting. In this...
Clinical testing for tumor cell-free DNA (cfDNA) has evolved rapidly, but no practice guidelines exist.To summarize cfDNA laboratory practices based on self-reporting and assess preanalytical, analytical, postanalytical trends that may influence the quality, accuracy, consistency of testing.Data were derived from College American Pathologists proficiency program submitted by 101 participating laboratories 2018 to 2019.Most performing clinical circulating are commercial/nonhospital (71.2%; 72...
Aims Molecular classification according to The Cancer Genome Atlas (TCGA) improves endometrial endometrioid carcinoma (EEC) prognostication and has specific treatment implications; however, original data were skewed towards low‐grade low‐stage tumours. Herein, we molecularly classify EECs metastatic at the time of diagnosis or with subsequently documented recurrent/metastatic disease examine correlation clinical outcomes. Methods TCGA categories include POLE ‐mutated, microsatellite...
e13681 Background: Cell-free tumor DNA or circulating tests are increasingly used in clinical care to detect somatic mutations from solid tumors. However, data on laboratory performance characteristics using standardized samples is limited. Methods: Well-characterized reference materials were for the College of American Pathologists (CAP) cell-free proficiency testing surveys, which consisted stabilized fragmented simulate a synthetic plasma matrix. For 2018A, 2018B, 2019A and 2019B...
Supplementary Data from Microsatellite Instability–High Endometrial Cancers with <i>MLH1</i> Promoter Hypermethylation Have Distinct Molecular and Clinical Profiles