Myeloproliferative Neoplasms with t(8;22)(p11.2;q11.2)/BCR-FGFR1: A Meta-Analysis of 20 Cases Shows Cytogenetic Progression with B-Lymphoid Blast Phase

Publication date: Available online 24 May 2017
Source:Human Pathology
Author(s): Ximena Montenegro-Garreaud, Roberto N. Miranda, Alexandra Reynolds, Guilin Tang, Sa A. Wang, Mariko Yabe, Wei Wang, Lianghua Fang, Carlos E. Bueso-Ramos, Pei Lin, L. Jeffrey Medeiros, Xinyan Lu
Rearrangements of FGFR1 result in the 8p11 myeloproliferative syndrome, a group of rare diseases that features a myeloproliferative neoplasm (MPN) that commonly progresses to lymphoblastic leukemia/lymphoma or acute myeloid leukemia. The most common partner of the FGFR1 is ZMYM2 and patients with the ZMYM2-FGFR1 fusion often present with MPN and T-lymphoblastic lymphoma. There are 14 other partners that can fuse with the FGFR1 and of interest is the BCR-FGFR1 fusion that results from t(8;22)(p11.2;q11.2). Patients with t(8;22) often show leukocytosis and present with an MPN resembling chronic myeloid leukemia (CML) or very rarely, with B lymphoblastic leukemia (B-ALL). In this study, we analyzed the clinicopathologic, cytogenetic and molecular features of 2 new patients with the t(8;22)(p11.2;q11.2)/BCR-FGFR1 who presented with B-ALL. An underlying MPN became apparent when a morphologic remission of B-ALL was achieved after chemotherapy. We subsequently reviewed the literature and identified 18 additional cases reported with B-ALL in a background MPN or with the MPN as a chronic phase. Our data suggest that the t(8;22)(p11.2;q11.2)/BCR-FGFR1 may arise from a myeloid/B progenitor cell. It is important to recognize that neoplasms carrying the t(8;22)/BCR-FGFR1, although rare, can commonly present as acute lymphoblastic leukemia at the initial diagnosis which could distract one from recognizing a possible underlying 8p11 myeloproliferative syndrome.



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