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

• Published in: Human pathology 2017-07, Vol.65, p.147-156
• Main Authors: Montenegro-Garreaud, Ximena, MD, Miranda, Roberto N., MD, Reynolds, Alexandra, Tang, Guilin, MD, Wang, Sa A., MD, Yabe, Mariko, MD, Wang, Wei, MD, Fang, Lianghua, MD, Bueso-Ramos, Carlos E., MD, Lin, Pei, MD, Medeiros, L. Jeffrey, MD, Lu, Xinyan, MD
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Antineoplastic Agents - therapeutic use; B lineage; B lymphoblastic leukemia; BCR; Biomarkers, Tumor - genetics; Bone marrow; Cancer; Child; Chromosomes; Chromosomes, Human, Pair 22; Chromosomes, Human, Pair 8; Cytogenetic Analysis; Cytogenetics; Databases, Factual; Diagnosis, Differential; Diagnostic Errors; Disease Progression; Female; FGFR1 rearrangement; FISH; Gene Fusion; Genes; Genetic Predisposition to Disease; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Kinases; Laboratories; Leukemia; Lymphoma; Male; Meta-analysis; Middle Aged; Monocytosis; Myeloproliferative Disorders - drug therapy; Myeloproliferative Disorders - genetics; Myeloproliferative Disorders - pathology; Pathology; Patients; Phenotype; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - drug therapy; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - genetics; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - pathology; Precursor Cells, B-Lymphoid - drug effects; Precursor Cells, B-Lymphoid - pathology; Predictive Value of Tests; Proto-Oncogene Proteins c-bcr - genetics; Receptor, Fibroblast Growth Factor, Type 1 - genetics; Retrospective Studies; Translocation, Genetic; Treatment Outcome; Tumors; Young Adult
• ISSN: 0046-8177; 1532-8392
• DOI: 10.1016/j.humpath.2017.05.008

Summary 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.