B-Lymphoblastic Leukemia/Lymphoma Associated with t(8;13)(p11;q12)/<b><i>ZMYM2 (ZNF198)-FGFR1</i></b>: Rare Case and Review of the Literature

Abstract

Myeloid and lymphoid neoplasms with fibroblastic growth factor receptor-1 (FGFR1) abnormalities originate from mutated pluripotent stem cells and have a heterogeneous clinical presentation. There are 12 identified partner genes commonly involved in FGFR1 translocation at an 8p11 breakpoint. In FGFR1-related neoplasms, T-lymphoblastic lymphoma with eosinophilia is the most common clinical scenario, whereas acute B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is rare. To date, only 7 cases of B-ALL/LBL with FGFR1 abnormalities have been reported. Here, we report an additional case of a 64-year-old gentleman with leukocytosis, eosinophilia and diffuse mediastinal and general lymphadenopathy. Bone marrow examination showed patchy infiltrates of immature precursors/blasts, along with myeloid/eosinophilic hyperplasia. Immunophenotyping confirmed increased B lymphoblasts (30-40%). Karyotyping revealed cytogenetic abnormalities, including t(8;13)(p11;q12)/ZMYM2 (ZNF198)-FGFR1 and trisomy 21. The patient did not respond to hyper-CVAD chemotherapy and within 4 months developed acute myelomonocytic leukemia and expired 11 months after the initial diagnosis. Similar cases from the literature are reviewed.

Myeloproliferative Syndrome With Eosinophilia Associated With Translocation t(8; 13) and T-cell Lymphoblastic Lymphoma: A Case Report and Review of the Literature

“…Case reports with the described characteristics have been previously published [6][7][8]. The 8p11 myeloproliferative syndrome was included in the latest WHO 2016 review of myeloid neoplasms and acute leukemia within the category of myeloid/lymphoid neoplasms associated with eosinophilia with FGFR1 rearrangement [1,9]. This syndrome affects patients in a wide age range (3-84 years) [2,10].…”

Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase fusion genes: A workshop report with focus on novel entities and a literature review including paediatric cases

“…In spite of being a rare entity, 28 a fairly large number of cases have been reported in the literature; 65 cases (1983-2009) with available cytogenetic data were reviewed by Jackson et al, 29 followed by additional literature reviews with or without focus on distinct fusion genes, [30][31][32][33] single 28 or multicentre studies, 34 registry-based studies 35 and a number of more recent single case reports, including identification of novel fusion genes. [36][37][38] According to the literature, the male-to female ratio is 1.5:1 and the usual age of onset is in the 30s.…”

Case study interpretation: Report from the ICCS Annual Meeting, Seattle, 2014

“…As was the case in this patient, such a chronic presentation ultimately evolves into a more acute, blastic process, or the disease may present in blastic phase de novo. Blastic FGFR‐1‐related disease most commonly presents as a T‐lymphoblastic process, with a myeloblastic presentation somewhat less common and a B‐lymphoblastic component reported only very rarely . In fact, initial reports of this syndrome as a genetically defined entity described it as a T‐lymphoblastic lymphoma associated with eosinophilia (for an early report and review, see Ref.…”

“…The case described in this report is of interest for two general reasons. First, the clinical presentation of an FGFR1‐related neoplasm as a mixed phenotype (in this case, bilineal) B/myeloid leukemia is quite rare, as it is the presentation of the disease without significant eosinophilia. Fortunately, the rearrangements involving FGFR1 are not typically cryptic by routine cytogenetics (unlike, e.g., FIPL1–PDGFRA rearrangements), and thus the translocation was detected in this patient even with a low index of suspicion.…”