Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines)

被引：1

作者：

Piard, Juliette ^{[1
,2
,7
]}

Verloes, Alain ^{[3
,4
]}

Cave, Helene ^{[3
]}

Peuchmaur, Michel ^{[5
]}

Bennaceur, Selim ^{[6
]}

Leheup, Bruno ^{[1
,7
]}

机构：

[1] CHU Nancy, Ctr Reference Syndromes Malformatifs & Anomalies, Serv Med Infantile & Genet Clin 3, Nancy, France

[2] Univ Franche Comte, Ctr Genet Humaine, F-25030 Besancon, France

[3] Robert Debre Univ Hosp, AP HP, Dept Genet, Paris, France

[4] Robert Debre Univ Hosp, INSERM U676, Paris, France

[5] Robert Debre Univ Hosp, AP HP, Dept Pathol, Paris, France

[6] Robert Debre Univ Hosp, AP HP, Dept Surg, Paris, France

[7] Univ Lorraine, PRES, UHP, Nancy, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 06期

关键词：

Noonan syndrome; LEOPARD syndrome; lipomatosis; Noonan syndrome-Multiple Lentigines; PTPN11; rasopathy; NEUROFIBROMATOSIS TYPE-1; GERMLINE MUTATIONS; PTPN11; MUTATIONS; LEOPARD-SYNDROME; CHILDREN; COLON; SOS1; RAS;

D O I：

10.1002/ajmg.a.35329

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Noonan syndrome (NS) is a tumor predisposing disorder. Leukemia is observed in 13% of patients with NS, with rare occurrences of solid tumors. It also appears to predispose to non-malignant tumors. We report on a 26-year-old female with features of Noonan syndromeMultiple Lentigines and a heterozygous mutation: c.1517A?>?C-p.Gln506Pro in the PTPN11 gene. The patient developed an unusual extensive lipomatosis and we discuss possible relationship between her lipomatosis and NS. (c) 2012 Wiley Periodicals, Inc.

引用

页码：1406 / 1410

页数：5

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