KMT2A基因重排的新生儿急性淋巴细胞白血病

IF 0.6 Q4 ONCOLOGY
S. Jha, V. Vij, Pronamee Borah, N. Dayal, R. Naithani
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引用次数: 0

摘要

先天性白血病(CL)是指在出生后28天内诊断出的白血病,其病因在子宫内发展。1只有20%的CL起源于淋巴组织,通常以白细胞计数较高、中枢神经系统(CNS)受累率高以及与转录共激活因子KMT2A强相关为特征,2一名34岁女性在妊娠38周时通过正常阴道分娩产下2680g女婴。母亲的产前病史对任何感染、药物或辐射暴露都没有显著意义。孩子出生时APGAR评分正常。出生时发现头部、面部、四肢和躯干有多个蓝色、红色或紫色的硬结节(蓝莓状病变)(►图1)。无变形相。肝和脾分别在肋缘以下3和4厘米处可触及。出生第1天,她的全血细胞(CBC)显示血红蛋白为9.9g/dL,白细胞总数为59900/cu.mm,其中66%为母细胞,血小板计数为30000/cu.mm。出生第2天进行的骨髓抽吸显示80%为母细胞。流式细胞术分析证实前体B细胞急性淋巴细胞白血病(ALL)。脑脊液检查显示白细胞增多(50个细胞/μL),83%为母细胞。细胞遗传学显示t(11,19)具有KMT2A基因重排。她开始与别嘌醇片剂一起进行静脉补水。她在出生第7天开始接受国际文传99协议。在中性粒细胞减少期的第17天,她出现发烧和呼吸急促,并在第19天死于肺炎和感染性休克。母亲的CBC和外周血涂片没有显示出任何白血病的迹象。排除种系突变的双亲的核型都是正常的。众所周知,CL与唐氏综合征、努南综合征和其他不明确的体质综合征有关。3新生儿早期的ALL经常与
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Acute Lymphoblastic Leukemia at Birth with KMT2A Gene Rearrangement
Congenital leukemia (CL) is defined as leukemia that is diagnosedwithin 28 days of birth and the causativemutation develops in utero.1Only 20% of CL are lymphoid in origin and usually are characterized by higher white blood cell count, high incidence of central nervous system (CNS) involvement, and strong association with KMT2A, a transcriptional coactivator, which is a positive global regulator of the gene transcription.2 A 34-year-old female delivered 2,680 g female baby at 38 weeks of gestation through normal vaginal delivery. Antenatal history of mother was not significant for any infection, drug, or radiation exposures. Child had a normal APGAR score at birth. Multiple blue, red, or purple firm nodules (blueberry lesions) over head, face, all limbs, and trunk were noted at birth (►Fig. 1). There were no dysmorphic facies. Liver and spleen were palpable 3 and 4 cm below costal margin, respectively. Her complete blood cell (CBC) on day 1 of birth revealed hemoglobin of 9.9 g/dL, total leucocyte counts of 59,900/cu.mm with 66% blasts, and platelet count of 30,000/cu.mm. Bone marrow aspiration done on day 2 of birth revealed 80% blasts. Flow cytometry analysis confirmed precursor B cell acute lymphoblastic leukemia (ALL). Cerebrospinal fluid examination revealed leucocytosis (50 cells/μL) with 83% blast. Cytogenetics revealed t(11, 19) with KMT2A gene rearrangement. She was started on intravenous hydration along with tablet allopurinol. She was started on Interfant 99 protocol on day 7 of birth. She developed fever with tachypnea on day 17 of life during neutropenic phase and succumbed on day 19 of life due to pneumonia and septic shock. CBC and peripheral blood smear of the mother did not show any evidence of leukemia. Both parents’ karyotypes performed to rule out germline mutations were normal. CL is known to be associated with Down syndrome, Noonan syndrome, and other ill-defined constitutional syndromes.3 ALL at early neonatal age is frequently associated
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来源期刊
CiteScore
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自引率
0.00%
发文量
80
审稿时长
35 weeks
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