具有骨髓增生异常综合征的体质性8号染色体三体镶嵌现象，并发肠道白塞病和抗凝血酶III缺乏症。
Constitutional trisomy 8 mosaicism with myelodysplastic syndrome complicated by intestinal Behcet disease and antithrombin III deficiency.
作者信息
Ando Sachiko, Maemori Masayo, Sakai Hajime, Ando Seisho, Shiraishi Hideaki, Sakai Keisuke, Ruhnke Gregory W
机构信息
Department of Hematology, Teine Keijinkai Hospital, Hokkaido, Japan.
出版信息
Cancer Genet Cytogenet. 2005 Oct 15;162(2):172-5. doi: 10.1016/j.cancergencyto.2005.01.010.
Trisomy 8 is the most common acquired chromosomal abnormality associated with myeloid malignancy. As a constitutional trisomy 8 mosaicism (T8M), it exhibits an extremely variable phenotype. In addition, Behcet disease (BD) has been reported as an unusual complication of myelodysplastic syndrome (MDS). To our knowledge, 12 case reports of various hematologic malignancies in patients with T8M and 18 case reports of MDS with acquired trisomy 8 complicated by BD have been published to date. We report a case of constitutional T8M with MDS complicated by intestinal BD and antithrombin III deficiency.
8号染色体三体是与髓系恶性肿瘤相关的最常见的获得性染色体异常。作为一种体质性8号染色体三体镶嵌现象（T8M），它表现出极其多样的表型。此外，白塞病（BD）已被报道为骨髓增生异常综合征（MDS）的一种罕见并发症。据我们所知，迄今为止已发表了12例T8M患者发生各种血液系统恶性肿瘤的病例报告以及18例获得性8号染色体三体的MDS并发BD的病例报告。我们报告1例体质性T8M合并MDS并伴有肠道BD和抗凝血酶III缺乏的病例。
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