Juvenile xanthogranuloma in Noonan syndrome.
Juvenile xanthogranuloma in Noonan syndrome.
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DOI：
10.1002/ajmg.a.62353
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发表时间：
2021-10
期刊：
影响因子：
--
通讯作者：
Rauen KA
中科院分区：
文献类型：
--
作者：
Ali MM;Gilliam AE;Ruben BS;Tidyman WE;Rauen KA
努南综合征(NS)是常见的类风湿性疾病之一。虽然NS的临床表型多种多样，但它的典型特征是独特的头面部特征、心脏缺陷、生长减慢、出血障碍、学习问题和癌症风险增加。有几个不同的基因导致NS，所有这些基因都参与了RAS/丝裂原活化蛋白激酶(RAS/MAPK)途径。青少年黄色肉芽肿(JXG)是一种少见的、增生性、自限性的皮肤病，影响年轻人，由于其暂时性，可能被忽视或误诊。已知与JXG相关的一种RAS病是神经纤维瘤病1型(NF1)。NF1中的JXG也被报道与青少年粒单核细胞白血病(JMML)有关。与Rasopathies一样，NS和NF1都有增加JMML的发生率。我们报告一位10个月大的患有NS的女性，她有PTPN11致病变异，导致SHP2p.Y62D杂合错义突变。她被发现有许多小的黄粉色光滑丘疹，经组织病理证实为JXG。为了理解在NS和NF1中RAS/MAPK通路共同的潜在致病失调，本报告提出了为什么NS个体可能易患JXG的可能的分子关联。
Noonan syndrome (NS) is one of the common RASopathies. While the clinical phenotype in NS is variable, it is typically characterized by distinctive craniofacial features, cardiac defects, reduced growth, bleeding disorders, learning issues and an increased risk of cancer. Several different genes cause NS, all of which are involved in the Ras/mitogen-activated protein kinase (Ras/MAPK) pathway. Juvenile xanthogranuloma (JXG) is an uncommon, proliferative, self-limited cutaneous disorder that affects young individuals and may be overlooked or misdiagnosed due to its transient nature. A RASopathy that is known to be associated with JXG is neurofibromatosis type 1 (NF1). JXG in NF1 has also been reported in association with a juvenile myelomonocytic leukemia (JMML). As RASopathies, both NS and NF1 have an increased incidence of JMML. We report a 10-month-old female with NS who has a PTPN11 pathogenic variant resulting in a heterozygous SHP2 p.Y62D missense mutation. She was found to have numerous, small, yellow-pink smooth papules that were histopathologically confirmed to be JXG. In understanding the common underlying pathogenetic dysregulation of the Ras/MAPK pathway in both NS and NF1, this report suggests a possible molecular association for why NS individuals may be predisposed to JXG.
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影响因子：
28.2
作者：
Diamond EL;Durham BH;Haroche J;Yao Z;Ma J;Parikh SA;Wang Z;Choi J;Kim E;Cohen-Aubart F;Lee SC;Gao Y;Micol JB;Campbell P;Walsh MP;Sylvester B;Dolgalev I;Aminova O;Heguy A;Zappile P;Nakitandwe J;Ganzel C;Dalton JD;Ellison DW;Estrada-Veras J;Lacouture M;Gahl WA;Stephens PJ;Miller VA;Ross JS;Ali SM;Briggs SR;Fasan O;Block J;Héritier S;Donadieu J;Solit DB;Hyman DM;Baselga J;Janku F;Taylor BS;Park CY;Amoura Z;Dogan A;Emile JF;Rosen N;Gruber TA;Abdel-Wahab O
通讯作者：
Abdel-Wahab O
影响因子：
20.3
作者：
Badalian-Very, Gayane;Vergilio, Jo-Anne;Rollins, Barrett J.
通讯作者：
Rollins, Barrett J.
DOI：
10.1007/978-3-030-02278-5_74
发表时间：
2019-01-01
期刊：
EBMT HANDBOOK: HEMATOPOIETIC STEM CELL TRANSPLANTATION AND CELLULAR THERAPIES
影响因子：
--
作者：
Niemeyer, Charlotte M.
通讯作者：
Niemeyer, Charlotte M.
影响因子：
30.8
作者：
Tartaglia, M;Mehler, EL;Gelb, BD
通讯作者：
Gelb, BD
影响因子：
1.2
作者：
Choong, K;Freedman, MH;Zipursky, A
通讯作者：
Zipursky, A