Wiem Boufrikha , Rim Rakez , Inaam Bizid , M.Maher Hadhri , Manel Njima , Sarra Boukhris , M.Adnene Laatiri
{"title":"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","authors":"Wiem Boufrikha , Rim Rakez , Inaam Bizid , M.Maher Hadhri , Manel Njima , Sarra Boukhris , M.Adnene Laatiri","doi":"10.1016/j.lrr.2023.100404","DOIUrl":null,"url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":null,"pages":null},"PeriodicalIF":0.7000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048923000444/pdfft?md5=485634e1df05d16d4b5e9d39874e4c59&pid=1-s2.0-S2213048923000444-main.pdf","citationCount":"0","resultStr":"{\"title\":\"A rare association of a high grade glioblastoma, cerebral abscess and acute lymphoblastic leukemia in a child with Noonan syndrome\",\"authors\":\"Wiem Boufrikha , Rim Rakez , Inaam Bizid , M.Maher Hadhri , Manel Njima , Sarra Boukhris , M.Adnene Laatiri\",\"doi\":\"10.1016/j.lrr.2023.100404\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>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.</p></div>\",\"PeriodicalId\":38435,\"journal\":{\"name\":\"Leukemia Research Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2023-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2213048923000444/pdfft?md5=485634e1df05d16d4b5e9d39874e4c59&pid=1-s2.0-S2213048923000444-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Leukemia Research Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2213048923000444\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Leukemia Research Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2213048923000444","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
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。
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.