一名患有努南综合征的儿童罕见地同时患有高级别胶质母细胞瘤、脑脓肿和急性淋巴细胞白血病

IF 0.7 Q4 HEMATOLOGY Leukemia Research Reports Pub Date : 2023-12-01 DOI:10.1016/j.lrr.2023.100404
Wiem Boufrikha , Rim Rakez , Inaam Bizid , M.Maher Hadhri , Manel Njima , Sarra Boukhris , M.Adnene Laatiri
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引用次数: 0

摘要

努南综合征是一种遗传性疾病,常由 PTPN11 基因突变引起。努南综合征患者以面部畸形、身材矮小和先天性心脏缺陷为特征,据报道,他们易患白血病、实体瘤和中枢神经系统肿瘤等恶性肿瘤。在此,我们报告了一例因 T 细胞急性淋巴细胞白血病而接受治疗的 14 岁努南综合征男孩,他同时伴有脑脓肿和高级别胶质母细胞瘤两种异常。这种特殊的并发症预后较差,有时会延误诊断和治疗。
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A rare association of a high grade glioblastoma, cerebral abscess and acute lymphoblastic leukemia in a child with Noonan syndrome

Noonan syndrome is a genetic disorder frequently caused by PTPN11 mutations. Patients with Noonan syndrome are characterized by facial dysmorphism, short stature and congenital heart defects and they have a reported predisposition to malignancies such as leukemia, and solid and central nervous system tumors. Here, we report a case of a 14-year-old boy with Noonan syndrome treated for T-cell acute lymphoblastic leukemia who presented with 2 concomitant abnormalities: cerebral abscess and high grade glioblastoma. This exceptional association exhibits to a poorer prognosis and may sometimes delay the diagnosis and therefore the therapeutic intervention.

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来源期刊
Leukemia Research Reports
Leukemia Research Reports Medicine-Oncology
CiteScore
1.70
自引率
0.00%
发文量
70
审稿时长
23 weeks
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