Zahir Muhammad Nauman, Masood Nehal, Shabbir-Moosajee Munira
J Pak Med Assoc. 2014 May;64(5):596-8.
Cytogenetic abnormalities have long been recognized as the genetic basis of the occurrence of various malignancies. Specific cytogenetic abnormalities have shown to occur recurrently in particular subtypes of leukaemias and lymphomas. t(1;14) is an infrequently occurring recurrent chromosomal translocation that has been described in literature to be associated with haematological malignancies. Trisomy 4 is another rare genetic abnormality which has been reported in association with both acute myeloid and lymphoid leukaemias. The concomitant occurrence of a myeloid malignancy in association with a lymphoproliferative disorder is a distinctly unusual phenomenon. We report the case of a young patient with concomitant T-cell acute lymphoblastic leukaemia and acute myeloid leukaemia with a novel cytogenetic abnormality i.e. t(1;14) with trisomy 4. We believe this is the first reported case where a patient with two concomitant haematological malignancies, harboured this karyotype.
细胞遗传学异常长期以来一直被认为是各种恶性肿瘤发生的遗传基础。特定的细胞遗传学异常已显示在白血病和淋巴瘤的特定亚型中反复出现。t(1;14)是一种罕见的反复出现的染色体易位,文献中已描述其与血液系统恶性肿瘤有关。4号染色体三体是另一种罕见的基因异常,据报道与急性髓系白血病和急性淋巴细胞白血病均有关联。髓系恶性肿瘤与淋巴增殖性疾病同时出现是一种明显不寻常的现象。我们报告了一例年轻患者,同时患有T细胞急性淋巴细胞白血病和急性髓系白血病,伴有一种新的细胞遗传学异常,即t(1;14)伴4号染色体三体。我们认为这是首例报告的同时患有两种血液系统恶性肿瘤且具有这种核型的患者。