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Schematic view of chromosome number 3 in which the PIK3CA gene is located in the long arm of this chromosome, as 3q26.32.

Schematic view of chromosome number 3 in which the PIK3CA gene is located in the long arm of this chromosome, as 3q26.32.

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Figure 3. Images of a child with MCAP syndrome associated with...
Figure 4. Schematic impairment of capillary dysfunction in MCAP syndrome.
Figure 5. Schematic of the wilms tumor in the kidney. ETIOLOGY OF...
Figure 6. Schematic view of chromosome number 3 in which the PIK3CA...
Figure 10. Microscopic images of kidney tissue cells with wilms tumor.
The Role of Genetic Mutations in Gene PIK3CA in Megalencephaly-Capillary Malformation Syndrome
Article
Full-text available
  • Jun 2019
Megalencephaly-capillary malformation syndrome (MCAP), formerly known as macrocephaly-capillary malformation, is a rare, complex disorder involving the skin, connective tissue, brain and other organs that are usually present at birth. Affected individuals usually have a disproportionately large head and capillary malformations on the skin of the mi...
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Case Report: 2-Year-Old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Mamorata Telangiectatica Congenita
Article
Full-text available
  • Jun 2022
  • J PEDIAT HEMATOL ONC
Biallelic variants in DI3SL2 cause Perlman Syndrome, associated increased risk for Wilms tumor. Cutis Mamorata 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.
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