Common features of myeloproliferative disorders with t(8;9)(p12;q33) and CEP110-FGFR1 fusion: report of a new case and review of the literature.
The 8p12 myeloproliferative syndrome is a rare, generally aggressive chronic myeloproliferative disorder (MPD). The hallmark of this MPD is the disruption of the FGFR1 gene, which encodes a tyrosine kinase receptor for members of the fibroblast growth factor family. In MPD cells FGFR1 is fused to several partners. The most frequent partner genes are BCR, CEP110, FOP, and ZNF198, localized on 22q11, 9q33, 6q27, and 13q12, respectively. We report here the tenth case of translocation (8;9)(p12;q33) in an acute myelomonocytic leukemia and provide a review of the literature that points to common syndrome features: the t(8;9)(p11;q33) MPD transforms rapidly, and always in myelomonocytic leukemia, with a possible B- or T-lymphoid involvement, which may include tonsil invasion. The FGFR1-MPD seems refractory to current chemotherapies and is not sensitive to imatinib. Currently, only the patients with bone marrow transplantation stand a chance of survival.
Mozziconacci
Marie-Joëlle
MJ
Laboratoire d'Oncologie Moléculaire, Centre de Recherche en Cancérologie de Marseille, UMR599 Inserm, Institut Paoli-Calmettes, Marseille, France. mozziconaccimj@marseille.fnclcc.fr
Carbuccia
Nadine
N
Prebet
Thomas
T
Charbonnier
Aude
A
Murati
Anne
A
Vey
Norbert
N
Chaffanet
Max
M
Birnbaum
Daniel
D
D000368:Aged; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics*; D008297:Male; D009196:Myeloproliferative Disorders / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000378:metabolism*; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000378:metabolism*; D014178:Translocation, Genetic
D015514:Oncogene Proteins, Fusion; D051496:Receptor, Fibroblast Growth Factor, Type 1; C405614:CEP110-FGFR1 fusion protein, human