Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report.
Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report.
复制标题
伴有新型 ATM 基因突变的共济失调毛细血管扩张症和 Burkitt 白血病：病例报告。
DOI：
10.3892/mco.2018.1721
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发表时间：
2018-11
影响因子：
1.2
通讯作者：
Yang L
中科院分区：
文献类型：
--
作者：
Ye F;Chai W;Yang M;Xie M;Yang L
共济失调-毛细血管扩张症（a-t）是一种罕见的常染色体隐性遗传病，涉及多个系统，其特征是进行性小脑共济失调，皮肤毛细血管扩张，放射敏感性，免疫缺陷伴复发性呼吸道感染，以及发展淋巴样恶性肿瘤的倾向。A-T是由ATM基因的突变引起的，迄今为止报道的突变有1000个，并且数量逐渐增加。患有A-T的患者患癌症的几率会增加。本研究的目的是回顾性回顾一例5岁时出现小脑性共济失调且无毛细血管扩张的患者，7岁时在中南大学湘雅医院通过骨髓活检和分子检测诊断为伯基特白血病。患者接受小儿CCCG-BNHL-2015方案（R4组）化疗，2个疗程后完全缓解。然而，化疗期间反复发生呼吸道感染和血栓形成。通过发现ATM基因的两个变体，包括位于第7外显子的c.742C>T （p.R248X; rs730881336）和c.6067-c，证实了A-T的诊断。通过全外显子组测序发现GAGGGAAGAT位于第41外显子6068。不幸的是，患者的父母拒绝后续治疗，在诊断出伯基特白血病4个月后，他死于复发性严重感染。A-T的诊断可能具有挑战性，因为它的表型在疾病的早期可能是不完整的。详细的病史，特征性的临床表现和日益发展的外显子组测序技术可能有助于诊断这种罕见的疾病。管理应以多学科指导为基础，未来必须研究其他治疗方案。
Ataxia-telangiectasia (A-T) is an infrequent autosomal recessive disorder that involves multiple systems and is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, radiosensitivity, immune deficiency with recurrent respiratory infections, and a tendency to develop lymphoid malignancies. A-T is caused by mutations in the ATM gene, with >1,000 mutations reported to date and gradually increasing in number. Patients with A-T have an increased incidence of cancers. The aim of the present study was to retrospectively review the case of a patient who presented at the age of 5 years with cerebellar ataxia without telangiectasia, and was diagnosed with Burkitt leukemia by bone marrow biopsy and molecular testing at the age of 7 years at the Xiangya Hospital of Central South University (Changsha, China). The patient received chemotherapy with the pediatric CCCG-BNHL-2015 regimen (R4 group) and achieved a complete remission after 2 courses. However, recurrent respiratory infections and thrombosis occurred during chemotherapy. The diagnosis of A-T was confirmed by uncovering two variants of the ATM gene, including c.742C>T (p.R248X; rs730881336) in exon 7 and c.6067-c.6068 ins GAGGGAAGAT in exon 41 by whole-exome sequencing. Unfortunately, the patient's parents refused follow-up treatment and he succumbed to recurrent severe infections 4 months after the diagnosis of Burkitt leukemia. The diagnosis of A-T may be challenging, as its phenotype can be incomplete early in the course of the disease. Detailed medical history, characteristic clinical manifestations and increasingly developed exome sequencing techniques may be helpful in diagnosing this rare disease. Management should be based on multidisciplinary guidance and other treatment options must be investigated in the future.