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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

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dc.contributor.author Montenegro-Garreaud, Ximena
dc.contributor.author Miranda, Roberto N.
dc.contributor.author Reynolds, Alexandra
dc.contributor.author Tang, Guilin
dc.contributor.author Wang, Sa A.
dc.contributor.author Yabe, Mariko
dc.contributor.author Wang, Wei
dc.contributor.author Fang, Lianghua
dc.contributor.author Bueso-Ramos, Carlos E.
dc.contributor.author Lin, Pei
dc.contributor.author Medeiros, L. Jeffrey
dc.contributor.author Lu, Xinyan
dc.date.accessioned 2019-01-25T15:28:06Z
dc.date.available 2019-01-25T15:28:06Z
dc.date.issued 2017
dc.identifier.uri https://hdl.handle.net/20.500.12866/4709
dc.description.abstract 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 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 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 or very rarely, with B-lymphoblastic leukemia (B-ALL). In this study, we analyzed the clinicopathological, 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 with B lymphoblastic leukemia at the initial diagnosis, which could distract one from recognizing a possible underlying 8p11 myeloproliferative syndrome. en_US
dc.language.iso eng
dc.publisher Elsevier
dc.relation.ispartofseries Human Pathology
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Adolescent en_US
dc.subject Adult en_US
dc.subject Female en_US
dc.subject Humans en_US
dc.subject Male en_US
dc.subject Retrospective Studies en_US
dc.subject Young Adult en_US
dc.subject Aged en_US
dc.subject Middle Aged en_US
dc.subject Diagnosis, Differential en_US
dc.subject Treatment Outcome en_US
dc.subject Child en_US
dc.subject Disease Progression en_US
dc.subject Predictive Value of Tests en_US
dc.subject Genetic Predisposition to Disease en_US
dc.subject B lineage en_US
dc.subject B lymphoblastic leukemia en_US
dc.subject BCR en_US
dc.subject Chromosomes, Human, Pair 22 en_US
dc.subject Chromosomes, Human, Pair 8 en_US
dc.subject Cytogenetic Analysis en_US
dc.subject Cytogenetics en_US
dc.subject FGFR1 rearrangement en_US
dc.subject FISH en_US
dc.subject Monocytosis en_US
dc.subject Translocation, Genetic en_US
dc.subject Antineoplastic Agents/therapeutic use en_US
dc.subject Biomarkers, Tumor/genetics en_US
dc.subject Databases, Factual en_US
dc.subject Diagnostic Errors en_US
dc.subject Gene Fusion en_US
dc.subject In Situ Hybridization, Fluorescence en_US
dc.subject Karyotyping en_US
dc.subject Myeloproliferative Disorders/drug therapy/genetics/pathology en_US
dc.subject Phenotype en_US
dc.subject Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/drug therapy/genetics/pathology en_US
dc.subject Precursor Cells, B-Lymphoid/drug effects/pathology en_US
dc.subject Proto-Oncogene Proteins c-bcr/genetics en_US
dc.subject Receptor, Fibroblast Growth Factor, Type 1/genetics en_US
dc.title 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 en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1016/j.humpath.2017.05.008
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.09
dc.relation.issn 1532-8392


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