Acute Myeloid Leukemia in a Patient With X-linked Severe Combined Immunodeficiency

被引：1

作者：

Shigemura, Tomonari ^{[1
]}

Motobayashi, Mitsuo ^{[1
]}

Matsuda, Kazuyuki ^{[2
]}

Shimodaira, Takahiro ^{[2
]}

Kurata, Takashi ^{[1
]}

Kobayashi, Norimoto ^{[1
]}

Agematsu, Kazunaga ^{[3
]}

Nakazawa, Yozo ^{[1
]}

机构：

[1] Shinshu Univ, Sch Med, Dept Pediat, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan

[2] Shinshu Univ Hosp, Dept Lab Med, Matsumoto, Nagano, Japan

[3] Shinshu Univ, Grad Sch Med, Dept Infect & Host Def, Matsumoto, Nagano, Japan

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2017年 / 39卷 / 08期

关键词：

severe combined immunodeficiency; acute myeloid leukemia; cord blood transplantation; loss of heterozygosity; NRAS mutation; 6q deletion; CANCER; PATHWAY; REGIONS; 6Q;

D O I：

10.1097/MPH.0000000000000892

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Severe combined immunodeficiency (SCID) is a defect in the differentiation and function of T cells. An increased malignancy risk, mainly lymphatic malignancy, has been described in patients with SCID. We report a patient with X-linked SCID who developed acute myeloid leukemia, derived from the recipient with somatic NRAS mutation 4 months after cord blood transplantation (CBT). Loss of heterozygosity phenomenon of the recipient at 6q14 locus was observed at 2 months post-CBT and progressed to 6q deletion (6q-) chromosome abnormality. Somatic NRAS mutation was detected at 3 months post-CBT. Thus, 6q- and NRAS mutation were strongly associated with the leukemic transformation in our patient.

引用

页码：E470 / E472

页数：3

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