Cox M C, Panetta P, Venditti A, Abruzzese E, Del Poeta G, Cantonetti M, Amadori S
Department of Hematology, Tor Vergata University, Ospedale S'Eugenio, P.le dell'Umanesimo 10, 00144, Roma, Italy.
Leuk Res. 2001 Apr;25(4):349-51. doi: 10.1016/s0145-2126(00)00136-3.
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.
原发性骨髓纤维化（IM）是一种慢性骨髓增殖性疾病（MPD），其特征为骨髓纤维化、髓外造血以及外周血的白细胞-红细胞生成象。IM的细胞遗传学数据匮乏：尚未描述出特定的核型异常。1q三体、del(13q)、del(20q)和8三体出现在三分之二有染色体畸变的病例中。我们报告了一名41岁被诊断为伴有嗜酸性粒细胞增多的IM患者，其携带一种新的易位t(6;10)(q27;q11)作为唯一的染色体异常。该患者在诊断后18个月内进展为急性髓系白血病-M5a。最近在慢性MPD中描述了新的特定染色体易位。这些发现使得能够对具有明确分子异常的新综合征进行分类。我们所描述的病例，由于其特殊的临床特征以及与先前未报道的染色体易位相关，可能是一个值得关注的补充。
