Long-term complete haematological and molecular remission after allogeneic bone marrow transplantation in a patient with a stem cell myeloproliferative disorder associated with t(8;13)(p12;q12).
A rare atypical myeloproliferative disorder (aMPD) associated with chromosomal translocations involving the short arm of chromosome 8, region p11-p12 has been described. In most patients, the cytogenetic abnormality is a t(8;13)(p12;q12) that fuses fibroblast growth factor receptor 1, the 8p12 key gene, to FIM/ZNF198 gene. Prognosis is poor with frequent evolution to acute myeloid leukaemia within 1 year of diagnosis. We report a new patient with aMPD with a t(8;13) translocation. Complete haematological, cytogenetic and molecular remission was demonstrated 39 months after allogeneic bone marrow transplantation. This is the first report to demonstrate a molecular remission in this disorder.
Suzan
Florence
F
Department of Haematology, Centre Hospitalier de Versailles, INSERM U119, Marseille, France.
Guasch
Géraldine
G
Terre
Christine
C
Garcia
Isabel
I
Bastie
Jean-Noël
JN
Maarek
Odile
O
Ribaud
Patricia
P
Gluckman
Eliane
E
Daniel
Marie-Thérèse
MT
Pébusque
Marie-Josèphe
MJ
Castaigne
Sylvie
S
D016026:Bone Marrow Transplantation; D002882:Chromosomes, Human, Pair 13; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000628:therapy*; D010940:Plant Proteins / Q000235:genetics; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D012074:Remission Induction; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic; D014184:Transplantation, Homologous
C088434:FIM protein, Antirrhinum majus; D010940:Plant Proteins; D017468:Receptors, Fibroblast Growth Factor; C496348:FGFR1 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1