Secondary anaplastic astrocytomadeveloping in a young adult withautoimmune lymphoproliferativesyndrome(ALPS)
Secondary anaplastic astrocytomadeveloping in a young adult withautoimmune lymphoproliferativesyndrome(ALPS)
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患有自身免疫性淋巴增殖综合征 (ALPS) 的年轻成人继发性间变性星形细胞瘤
DOI：
10.1111/j.1365-2990.2010.01123.x
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
J
中科院分区：
文献类型：
--
作者：
Kita;D.;Hayashi;Y.;Watanabe;T.;Korshunov;A.;von Deimling;A.;Nakada;M.;Kasahara;Y.;Zen;Y. and Hamada;J
自身免疫性淋巴组织增生综合征（ALPS; OMIM# 601859）是一种罕见的凋亡性疾病，可归因于FAS介导的凋亡信号转导失败[1，2]，导致淋巴结病、脾功能亢进和儿童期发病的自身免疫性血细胞减少症。ALPS发病率和死亡率的主要决定因素是自身免疫性疾病的严重程度;约10%的患者发生恶性淋巴瘤[3-5]。我们遇到了一个23岁的男性与ALPS 1A型谁开发了继发性间变性星形细胞瘤。恶性星形细胞瘤的发生有两种不同的途径[6]。低级别弥漫性星形细胞瘤，通常伴有IDH 1（> 80%）和TP 53（> 60%）突变，最终进展为恶性程度更高的间变性星形细胞瘤，随后是继发性胶质母细胞瘤[7，8]。我们提出了一个非常罕见的情况下，继发性间变性星形细胞瘤的ALPS患者和文件的遗传改变，在肿瘤进展的过程中，即生殖系FAS突变没有IDH突变。该患者是一名23岁男性ALPS 1A型患者，表现出导致FAS介导的细胞凋亡信号转导失败的生殖系FAS突变[9]。他的姐姐患有非霍奇金淋巴瘤，他的母亲没有症状。他的外祖母在70岁时死于继发性胶质母细胞瘤，没有免疫缺陷的迹象。他父亲没有免疫缺陷家族史
Autoimmune lymphoproliferative syndrome (ALPS; OMIM# 601859) is a rare apoptotic disorder attributable to a failure in FAS-mediated apoptosis signaling [1, 2] that leads to lymphadenopathy, hypersplenism, and autoimmune cytopenia with childhood onset. The major determinants of morbidity and mortality in ALPS are the severity of the autoimmune disease; about 10% of patients develop malignant lymphoma [3-5]. We encountered a 23-year-old male with ALPS type 1A who developed a secondary anaplastic astrocytoma. This is the first reported case of its kind.Malignant astrocytoma is now known to develop via 2 different pathways [6]. Low-grade diffuse astrocytomas, commonly accompanied by IDH1 (> 80%) and TP53 (> 60%) mutations, eventually progress to a more malignant form of anaplastic astrocytoma followed by secondary glioblastoma [7, 8]. We present an extremely rare case of secondary anaplastic astrocytoma in an ALPS patient and document genetic alterations in the course of tumour progression, ie germline FAS mutation without IDH mutation. The patient was a 23-year-old male with ALPS type 1A manifesting a germline FAS mutation that resulted in the failure of FAS-mediated apoptosis signal transduction [9]. His sister had non-Hodgkin's lymphoma, his mother was asymptomatic. His maternal grandmother had died at the age of 70 of secondary glioblastoma without signs of immunodeficiency. On his father's side there was no family history of immunodeficiency