Nephroblastomatosis, Fetal Ascites, Macrosomia and Wilms Tumor

Last update 08 May 2025

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NEPHROBLASTOMATOSIS, FETAL ASCITES, MACROSOMIA, AND WILMS TUMOR, Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor, Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor

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Introduction

A rare, autosomal recessive syndrome characterized by the presence of polyhydramnios, neonatal macrosomia, craniofacial abnormalities, nephroblastomatosis, and predisposition to Wilms tumor. The prognosis is poor.

100 Clinical Results associated with Nephroblastomatosis, Fetal Ascites, Macrosomia and Wilms Tumor

100 Translational Medicine associated with Nephroblastomatosis, Fetal Ascites, Macrosomia and Wilms Tumor

0 Patents (Medical) associated with Nephroblastomatosis, Fetal Ascites, Macrosomia and Wilms Tumor

Literatures (Medical) associated with Nephroblastomatosis, Fetal Ascites, Macrosomia and Wilms Tumor

01 Dec 2023·Cureus

DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility

Author: Almumtin, Khulud A ; Alherz, Rabab M ; Alshaikh Saleh, Razan A ; Al Ghadeer, Hussain A ; Abu Sinah, Ahmed K ; Alkhalaf, Ghufran I ; Alghafli, Jinan A ; Alessa, Marwah A ; Bumejdad, Hassan N ; Alghazal, Fouad A

The deletion of the DIS3L2 gene causes the extremely uncommon congenital overgrowth syndrome, known as Perlman syndrome, which is autosomal recessive. Polyhydramnios, macrosomia, facial dysmorphism, renal dysplasia, and several congenital abnormalities with Wilms tumor propensity are its defining features. Beckwith-Wiedemann syndrome (BWS), prune belly syndrome (PBS), and Simpson-Golabi-Behmel syndrome (SGBS1) have certain similar clinical characteristics with Perlman syndrome. The syndrome is often associated with a high neonatal mortality rate and there are few reports of long-term survivors. Here, we present a case with the classic clinical features of Perlman syndrome and a DIS3L2 gene deletion that was discovered prenatally.

01 Jan 2023·Journal of Pediatric Hematology/Oncology

Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica Congenita

Article

Author: Merrill, Michelle ; Mitchell, Anna ; Horn, Joanna ; DeBrosse, Suzanne ; Friedman, Cameron D.

Biallelic variants in DI3SL2 cause Perlman Syndrome, associated increased risk for Wilms tumor. Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare congenital disorder characterized by cutaneous vascular anomalies. We report a 2-year-old boy with both Wilms tumor and CMTC. Genetic testing, prompted by his complex presentation, revealed 1 somatic mutation and 1 familial germline mutation in the DIS3L2 gene, suggesting a 2-hit causation of Wilms tumor. Separately, a single GNA11 somatic mutation was identified to explain the CMTC. We suggest that genetic testing for germline mutations associated with Wilms tumor susceptibility be considered even in cases without known family history.

10 Jan 2022·Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].

Article

Author: Chen, Shuang ; Lei, Tao ; Li, Jingjing ; Chen, Jing ; Ren, Lanfen ; Hu, Chunhui ; Zhao, Peiwei

OBJECTIVETo analyze the clinical phenotype and genetic characteristics of a child with Perlman syndrome.METHODSGenomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing (WES) was carried out to detect potential variant in the proband. Candidate variant was verified by Sanger sequencing. The pathogenicity of candidate variants was evaluated according to the guidelines of the American College of Medical Genetics and Genomics (ACMG).RESULTSThe results of WES showed that the proband has harbored compound heterozygous variants of the DIS3L2 gene, namely c.2109delC and c.1829.c.1830insC, which were respectively inherited from her mother and father. The results were confirmed by Sanger sequencing. Based on the ACMG guidelines, the two novel variants were both predicted to be pathogenic (PVS1+PS2+PM2).CONCLUSIONThe compound heterozygous variants of the DIS3L2 gene probably underlay the Perlman syndrome in this patient. Above finding has enriched the spectrum of DIS3L2 gene mutations.

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Nephroblastomatosis, Fetal Ascites, Macrosomia and Wilms Tumor

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