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伴有t(12;13)(p13;q12)易位及肿瘤形成的非典型慢性骨髓增殖性疾病

[Atypical chronic myeloproliferative disorder with translocation (12;13) (p13;q12) and tumor formation].

作者信息

Chiyoda S, Morikawa T, Takahara O

机构信息

Department of Internal Medicine, Japanese Red Cross Nagasaki Atomic Bomb Hospital.

出版信息

Rinsho Ketsueki. 1994 Dec;35(12):1355-60.

PMID:7861615
Abstract

A 49 year-old man was admitted to our hospital in May 1989, with a cervical tumor and leukocytosis. He had been pointed out leukocytosis for last two years. Peripheral blood examinations demonstrated an increase of leukocytes (39,500/microliters) with low neutrophil alkaline phosphatase, eosinophilia and immature cells. Examination of bone marrow revealed normoplasia with 5.6% eosinophils, 1.4% myeloblasts, 2.6% promyelocytes and 250/microliters megakaryocytes. Cytogenetic analysis disclosed 46, XY, t (12;13) (p13;q12). Southern blot analysis showed no BCR rearrangement. The tumor cells had infiltrated the lymph nodes. Pathological finding agreed with the specimen of the lymph node as in the clot section of bone marrow. He was diagnosed as having a chronic myeloproliferative disorder with tumor formation and was treated with anti-leukemia drugs, including BH-AC, THP, VDS, MTX, VP-16, BUS, 6MP and uvenimex. He showed hematological remission, temporary, but he did not reach cytogenetical remission and died in April 1990. Further study in a large series is necessary to define whether the abnormality of the chromosome with t(12;13) (p13;q12) is characteristic in cases with tumor formation.

摘要

一名49岁男性于1989年5月入住我院,患有颈部肿瘤和白细胞增多症。他在过去两年中一直被指出存在白细胞增多症。外周血检查显示白细胞增多(39,500/微升),中性粒细胞碱性磷酸酶降低,嗜酸性粒细胞增多以及出现幼稚细胞。骨髓检查显示正常造血,嗜酸性粒细胞占5.6%,原始粒细胞占1.4%,早幼粒细胞占2.6%,巨核细胞为250/微升。细胞遗传学分析显示核型为46, XY, t(12;13)(p13;q12)。Southern印迹分析显示无BCR重排。肿瘤细胞已浸润至淋巴结。病理检查结果与骨髓凝块切片中的淋巴结标本一致。他被诊断为患有慢性骨髓增殖性疾病并伴有肿瘤形成,并接受了包括BH-AC、THP、VDS、MTX、VP-16、BUS、6MP和乌苯美司在内的抗白血病药物治疗。他出现了暂时的血液学缓解,但未达到细胞遗传学缓解,并于1990年4月去世。有必要对大量病例进行进一步研究,以确定具有t(12;13)(p13;q12)染色体异常是否为伴有肿瘤形成病例的特征。

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