FGFR1 translocation with concurrent myeloproliferative neoplasm, systemic mastocytosis, and lymphoblastic lymphoma: a case report

Publication date: Available online 28 October 2017
Source:Human Pathology
Author(s): Koping Chang, Jia-Hau Liu, Shan-Chi Yu, Chung-Wu Lin
FGFR1 translocation may cause myeloid or lymphoid neoplasm but rarely systemic mastocytosis (SM). Conversely, SM is associated with myeloproliferative neoplasm (MPN), but rarely lymphoblastic lymphoma (LBL) or FGFR1 translocation. We report the first case of FGFR1 translocation in a patient with concurrent LBL, MPN, and SM. A 21-year-old male patient presented with diffuse lymphadenopathies and leukocytosis. TdT⁺/cytoCD3⁺/CD79a^weakly+ LBL was identified in the lymph node. Bone marrow had MPN, SM, and TdT⁺/CD79a⁺/cytoCD3^weakly+ LBL. The cytogenetic study, RT-PCR, and sequencing revealed t(8;13)(p11;q12) involving FGFR1 and ZMYM2. Under the hyper-CVAD regimen, complete remission of LBL was achieved, despite persistent MPN and SM in the bone marrow. This rare case implies FGFR1 translocation in a precursor cell capable of differentiation into mast cells and lymphoblasts, strengthening the relationship between the two tumors in the WHO classification: myeloid and lymphoid neoplasms with FGFR1 abnormalities, and SM with an associated hematologic neoplasm.



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