Somak Roy, MD

NTRK1-rearranged histiocytosis: clinicopathologic and molecular features. Fragneau, R; Fraitag, S; Kemps, PG; Hélias-Rodzewicz, Z; Roy, S; Bonsang, B; Bartlett, AL; Dhar, S; Jankofsky, M; Zlocha, J; Donadieu, J; Borkhardt, A; Picarsic, JL; Emile, JF. Blood Advances. 2025; 9:3617-3628.

Development of a Body of Knowledge for the Clinical Bioinformatician: Perspectives from the Association for Molecular Pathology's Clinical Bioinformatician Body of Knowledge Steering Committee. Roy, S; Fussell, AM; Jordan, D; Kadri, S; Leon, A; Schmidt, RJ; Temple-Smolkin, RL; Merker, JD. The Journal of molecular diagnostics : JMD. 2025; 27:541-545.

Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors. Patel, A; Göbel, K; Ille, S; Hinz, F; Schoebe, N; Bogumil, H; Meyer, J; Brehm, M; Kardo, H; Schrimpf, D; Loose, M; Schlesner, M; Sill, M; Sahm, F. Nature Medicine. 2025; 31:1567-1577.

A novel POT1-TPD presentation: A germline pathogenic POT1 variant discovered in a patient with newly diagnosed posterior fossa ependymoma. Gilene, S; Knapke, S; Leino, D; Roy, S; Raskin, S. Cancer genetics. 2025; 292-293:38-43.

68. ClinGen Cancer Variant Interpretation (CVI): Updates and recommendations on the ClinGen/CGC/VICC Oncogenicity SOP. Ritter, D; Sonkin, D; Griffith, M; Griffith, O; Pavlick, D; Saliba, J; Seifi, M; Raca, G; Rosenbaum, J; Roy, S; Wagner, A; Kulkarni, S; Li, M; Plon, SE. Cancer genetics. 2024; 286:s22.

39. Modifying cancer variant interpretation guidelines for the curation of histone H3 variants: The 'next step' of the Cl. Satgunaseelan, L; Roy, S; Golem, S; Ji, J; Akkari, Y; Spiteri, E; Danos, A; Lin, W; Grisdale, C; Griffith, O; Griffith, M; Saliba, J; Meredith, D. Cancer genetics. 2024; 286:s12-s13.

Dabrafenib and trametinib in Langerhans cell histiocytosis and other histiocytic disorders. Cournoyer, E; Ferrell, J; Sharp, S; Ray, A; Jordan, M; Dandoy, C; Grimley, M; Roy, S; Lorsbach, R; Merrow, AC; Nelson, A; Bartlett, A; Picarsic, J; Kumar, A. Haematologica: the hematology journal. 2024; 109:1137-1148.

PATH-46. A NOVEL POT1-TPD PRESENTATION: A GERMLINE POT1 MUTATION DISCOVERED IN A PATIENT WITH NEWLY DIAGNOSED POSTERIOR FOSSA EPENDYMOMA. Gilene, S; Raskin, S; Roy, S; Knapke, S. Neuro-Oncology. 2023; 25:v178.

Current clinical practices and challenges in molecular testing: a GOAL Consortium Hematopathology Working Group report. Lee, TD; Aisner, DL; David, MP; Eno, CC; Gagan, J; Gocke, CD; Guseva, NV; Haley, L; Jajosky, AN; Jones, D; Wu, D; Xian, RR; Yohe, S; Kim, AS. Blood Advances. 2023; 7:4599-4607.

Lineage switching of the cellular distribution of BRAFV600E in multisystem Langerhans cell histiocytosis. Milne, P; Bomken, S; Slater, O; Kumar, A; Nelson, A; Roy, S; Velazquez, J; Mankad, K; Nicholson, J; Yeomanson, D; Picarsic, J; Allen, C; Bigley, V; Collin, M. Blood Advances. 2023; 7:2171-2176.