New reciprocal translocation t(6;10) (q27;q11) associated with idiopathic myelofibrosis and eosinophilia.
Idiopathic myelofibrosis (IM), is a chronic myeloproliferative disorder (MPD) characterised by marrow fibrosis, extramedullary haematopoiesis and a leuco-erythroblastic picture of the peripheral blood. Cytogenetic data of IM is scarce: no specific karyotypic anomalies have been yet described. Trisomy 1q, del(13q), del(20q) and trisomy 8, appear in two-thirds of the cases with chromosome aberrations. We report on a 41-year-old patient diagnosed with IM associated with eosinophilia, bearing a novel translocation t(6;10)(q27;q11) as the sole chromosome anomaly. The patient, progressed to AML-M5a within 18 months from diagnosis. Recently new specific chromosomal translocations have been described in chronic MPD. These findings have allowed the classification of new syndromes with defined molecular abnormalities. The case we describe, because of the peculiar clinical features and the association with a previously unreported chromosomal translocation, might be a noteworthy addition.
Cox
M C
MC
Department of Hematology, Tor Vergata University, Ospedale S'Eugenio, P.le dell'Umanesimo 10, 00144, Roma, Italy. coxcillo@yahoo.com
Panetta
P
P
Venditti
A
A
Abruzzese
E
E
Del Poeta
G
G
Cantonetti
M
M
Amadori
S
S
D000328:Adult; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D018450:Disease Progression; D004802:Eosinophilia / Q000150:complications / Q000235:genetics*; D006801:Humans; D007948:Leukemia, Monocytic, Acute / Q000209:etiology / Q000235:genetics; D008297:Male; D009196:Myeloproliferative Disorders / Q000209:etiology / Q000235:genetics; D055728:Primary Myelofibrosis / Q000209:etiology / Q000235:genetics*; D014178:Translocation, Genetic