神秘的inv(9)：血液系统恶性肿瘤罕见发现的病例报告
Enigmatic Inv(9): A Case Report on Rare Findings in Hematological Malignancies.
作者信息
Vijay Sangeetha, Narayanan Geetha, Sarojam Santhi, Raveendran Suresh Kumar, Hariharan Sreedharan
机构信息
Regional Cancer Centre, Division of Cancer Research, Medical College PO, Thiruvananthapuram-695 011, Kerala, India.
Regional Cancer Centre, Division of Medical Oncology, Medical College PO, Thiruvananthapuram-695 011, Kerala, India.
出版信息
Iran Red Crescent Med J. 2016 Apr 22;18(4):e25062. doi: 10.5812/ircmj.25062. eCollection 2016 Apr.
INTRODUCTION
Inversion of chromosome 9 had been widely discussed among geneticists and evolutionary biologists because of its significant impact on various hereditary disorders and in the evolution of man. The role of such inversions in human disease evolution is an area hitherto unclear.
CASE PRESENTATION
We present the case of a chronic myeloid leukemia (CML) patient who showed intermittent relapse on treatment, with a rare appearance of clones with dual inversion (9) breakpoints [inv(9)(p22q34); inv(9)(p11q21)]. We also present the first report of inv(9)(p11,q13) as the sole abnormality in a patient with chronic myeloproliferative disorder(CMPD). Both the patients registered in 2012 and were from Kerala, India.
CONCLUSIONS
Both the cases discussed in our study have inv(9) as the sole abnormality and are found to confer a relatively poor prognosis.
引言
9号染色体倒位因其对各种遗传性疾病和人类进化的重大影响，一直是遗传学家和进化生物学家广泛讨论的话题。这种倒位在人类疾病进化中的作用是一个迄今尚不清楚的领域。
病例报告
我们报告一例慢性髓性白血病（CML）患者，该患者在治疗期间出现间歇性复发，罕见地出现具有双倒位（9）断点[inv(9)(p22q34); inv(9)(p11q21)]的克隆。我们还首次报告了inv(9)(p11,q13)作为慢性骨髓增殖性疾病（CMPD）患者唯一异常的情况。这两名患者均于2012年登记，来自印度喀拉拉邦。
结论
我们研究中讨论的两个病例均以inv(9)作为唯一异常，且预后相对较差。
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