2021 Nov 2;59(11):973-975.
 doi: 10.3760/cma.j.cn112140-20210406-00294.

[Two cases of T lymphocyte malignant tumor secondary to ataxia telangiectasia syndrome]

[Article in Chinese]
Affiliations 

Affiliation

  • 1Department of Hematology Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Key Laboratory of Children's Hematology Oncology, National Health Commission, Shanghai 200125, China.

Abstract

2例患儿均于1岁左右出现进行性神经发育倒退及共济失调,并于学龄期罹患T淋巴细胞恶性肿瘤,同时经基因检测确诊毛细血管扩张共济失调综合征。本病自婴幼儿期发病,以神经系统症状为主要表现,伴毛细血管扩张及免疫缺陷,极易误诊。合并恶性肿瘤后对常规剂量化疗尤其是甲氨蝶呤及环磷酰胺敏感,极易出现严重化疗相关不良反应,需行个体化治疗。.

Both children developed progressive neurodevelopmental regression and ataxia around 1 year old, and developed T lymphocyte malignancies at school age. At the same time, the telangiectasia ataxia syndrome was diagnosed by genetic testing. The disease begins in infants and young children. It is mainly manifested by neurological symptoms, accompanied by telangiectasia and immunodeficiency, which is easy to be misdiagnosed. Malignant tumors are sensitive to conventional dose chemotherapy, especially methotrexate and cyclophosphamide, and are prone to severe chemotherapy-related adverse reactions, requiring individualized treatment. 

Ambos niños desarrollaron regresión progresiva del neurodesarrollo y ataxia alrededor del año de edad, y desarrollaron tumores malignos de linfocitos T. Al mismo tiempo, el síndrome de telangiectasia ataxia fue diagnosticado mediante pruebas genéticas. La enfermedad comienza en lactantes y niños pequeños y se manifiesta principalmente por síntomas neurológicos, acompañados de telangiectasia e inmunodeficiencia, que es fácil de diagnosticar erróneamente. Los tumores malignos son sensibles a la quimioterapia de dosis convencional, especialmente metotrexato y ciclofosfamida, y son propensos a reacciones adversas graves relacionadas con la quimioterapia, que requieren un tratamiento individualizado.

 

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