Dr. Segal is a molecular pathologist with a clinical focus on next generation sequencing testing for oncology diagnosis and patient management. He specializes in the development and validation of large-scale genomics assays and bioinformatics systems to support all aspects of personalized oncology practice. His research interests include genomic analysis of tumors, exploratory bioinformatics and the use of genomics to support personalized cellular immunotherapy.
Director, Molecular and Cytogenetic Pathology
President, Genomics Association for Academic Laboratories
BAP1-Mutated Clear Cell Renal Cell Carcinoma.
Gallan AJ, Parilla M, Segal J, Ritterhouse L, Antic T. BAP1-Mutated Clear Cell Renal Cell Carcinoma. Am J Clin Pathol. 2021 04 26; 155(5):718-728.
PMID: 33210135
Evaluation of SWI/SNF Protein Expression by Immunohistochemistry in Ovarian Clear Cell Carcinoma.
Bennett JA, Safdar N, Segal JP, Lastra RR, Oliva E. Evaluation of SWI/SNF Protein Expression by Immunohistochemistry in Ovarian Clear Cell Carcinoma. Int J Gynecol Pathol. 2021 Mar 01; 40(2):156-164.
PMID: 32897960
Eosinophilic renal cell carcinoma with isolated MTOR mutation metastatic to the liver: a novel case.
Tjota MY, Segal J, Stadler WM, Antic T. Eosinophilic renal cell carcinoma with isolated MTOR mutation metastatic to the liver: a novel case. Pathology. 2021 Oct; 53(6):790-793.
PMID: 33509639
TSC/MTOR-mutated eosinophilic renal tumors are a distinct entity that is CK7+/CK20-/vimentin-: a validation study.
Tjota MY, Wanjari P, Segal J, Antic T. TSC/MTOR-mutated eosinophilic renal tumors are a distinct entity that is CK7+/CK20-/vimentin-: a validation study. Hum Pathol. 2021 09; 115:84-95.
PMID: 33352195
Sensitive detection and quantification of SARS-CoV-2 in saliva.
Abasiyanik MF, Flood B, Lin J, Ozcan S, Rouhani SJ, Pyzer A, Trujillo J, Zhen C, Wu P, Jumic S, Wang A, Gajewski TF, Wang P, Hartley M, Ameti B, Niemiec R, Fernando M, Aydogan B, Bethel C, Matushek S, Beavis KG, Agrawal N, Segal J, Tay S, Izumchenko E. Sensitive detection and quantification of SARS-CoV-2 in saliva. medRxiv. 2020 Dec 07.
PMID: 33330880
BAP1-Mutated Clear Cell Renal Cell Carcinoma.
Gallan AJ, Parilla M, Segal J, Ritterhouse L, Antic T. BAP1-Mutated Clear Cell Renal Cell Carcinoma. Am J Clin Pathol. 2020 Nov 19.
PMID: 33210135
Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.
Trottier AM, Druhan LJ, Kraft IL, Lance A, Feurstein S, Helgeson M, Segal JP, Das S, Avalos BR, Godley LA. Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies. Blood Adv. 2020 10 27; 4(20):5269-5284.
PMID: 33108454
Diagnosis and treatment of mixed phenotype (T-myeloid/lymphoid) acute leukemia with novel ETV6-FGFR2 rearrangement.
Carll T, Patel A, Derman B, Hyjek E, Lager A, Wanjari P, Segal J, Odenike O, Fidai S, Arber D. Diagnosis and treatment of mixed phenotype (T-myeloid/lymphoid) acute leukemia with novel ETV6-FGFR2 rearrangement. Blood Adv. 2020 10 13; 4(19):4924-4928.
PMID: 33049052
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Feurstein S, Adegunsoye A, Mojsilovic D, Vij R, West DePersia AH, Rajagopal PS, Osman A, Collins RH, Kim RH, Gore SD, Greenberg P, Godley LA, Li Z, Del Gaudio D, Subramanian HP, Das S, Walsh T, Gulsuner S, Segal JP, Husain AN, Gurbuxani S, King MC, Strek ME, Churpek JE. Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations. Blood Adv. 2020 10 13; 4(19):4873-4886.
PMID: 33035329
A Tale of 2 Morphologies: Diagnostic Pitfalls in TFEB-Associated Renal Cell Carcinomas, Including a Novel NEAT1-TFEB Fusion.
Sharma AE, Parilla M, Wanjari P, Segal JP, Antic T. A Tale of 2 Morphologies: Diagnostic Pitfalls in TFEB-Associated Renal Cell Carcinomas, Including a Novel NEAT1-TFEB Fusion. Int J Surg Pathol. 2021 Feb; 29(1):21-29.
PMID: 32886007