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Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia
Author(s) -
Andrieux Joris,
Demory JeanLoup,
Dupriez Brigitte,
Quief Sabine,
Plantier Isabelle,
Roumier Christophe,
Bauters Francis,
Laï Jean Luc,
Kerckaert JeanPierre
Publication year - 2004
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.10297
Subject(s) - myelofibrosis , fluorescence in situ hybridization , hmga2 , myeloid , biology , cancer research , chromosomal translocation , pathology , haematopoiesis , runx1 , myelopoiesis , bone marrow , gene , chromosome , immunology , stem cell , genetics , medicine , microrna
Among cytogenetic studies of patients affected with myelofibrosis with myeloid metaplasia (MMM), a rare chronic myeloproliferative disorder, we found several reports of structural abnormalities of the long arm of chromosome 12. Two MMM patients had a balanced translocation involving 12q: t(4;12)(q32;q15) and t(5;12)(p14;q15), respectively. FISH (fluorescence in situ hybridization) analysis showed that BAC (bacterial artificial chromosome) RP11‐366L20 overlaps the breakpoint in both cases. A gene, HMGA2 , most of which is included in that BAC, thus was identified as a potential candidate. Using reserves transcriptase–polymerase chain reaction (RT‐PCR), we looked for expression of HMGA2 in blood mononuclear cells from these 2 patients and demonstrated a transcript in both. Moreover, we found the gene expressed in the hematopoietic cells of 10 of 10 additional patients bearing no 12q anomalies. HMGA2 , not expressed in normal subjects, is implicated in benign solid tumors such as lipomas, leiomyomas, and other rare tumors of mesenchymal origin. We postulate that its dysregulation and overexpression in myeloid progenitors contribute also to the pathogenesis of MMM. © 2003 Wiley‐Liss, Inc.