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1.

Wilms tumor 1

Wilms tumor is the most common renal tumor of childhood, occurring with an incidence of 1 in 10,000 and with a median age of diagnosis between 3 and 4 years of age. Wilms tumours are thought to develop from abnormally persistent embryonal cells within nephrogenic rests. Histologically, Wilms tumor mirrors the development of the normal kidney and classically consists of 3 cell types: blastema, epithelia, and stroma (summary by Slade et al., 2010). Genetic Heterogeneity of Wilms Tumor Susceptibility to Wilms tumor is genetically heterogeneous. WT2 (194071) is caused by mutation in the H19/IGF2-imprinting control region (ICR1; 616186) on chromosome 11p15. WT3 (194090) represents a locus mapped to chromosome 16q. WT4 (601363) represents a locus mapped to chromosome 17q12-q21. WT5 (601583) is caused by mutation in the POU6F2 gene (609062) on chromosome 7p. WT6 (616806) is caused by mutation in the REST gene (600571) on chromosome 4q12. Mutations in the BRCA2 gene (600185) have also been reported in Wilms tumor. Rare somatic and constitutional disruption of the HACE1 gene (610876) has also been reported in Wilms tumor. Somatic mutations in the glypican-3 gene (GPC3; 300037) have been described in Wilms tumor. Somatic mutations in the WTX gene (300647) on the single X allele in tumors from males and on the active X allele in tumors from females have also been described. [from OMIM]

MedGen UID:
447509
Concept ID:
CN033288
Disease or Syndrome
2.

Nephroblastoma

Wilms tumor is a rare type of kidney cancer. It causes a tumor on one or both kidneys. It usually affects children, but can happen in adults. Having certain genetic conditions or birth defects can increase the risk of getting it. Children that are at risk should be screened for Wilms tumor every three months until they turn eight. Symptoms include a lump in the abdomen, blood in the urine, and a fever for no reason. Tests that examine the kidney and blood are used to find the tumor. Doctors usually diagnose and remove the tumor in surgery. Other treatments include chemotherapy and radiation and biologic therapies. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
3.

Nephroblastoma (Wilms tumor)

The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. [from HPO]

MedGen UID:
505324
Concept ID:
CN002424
Finding
4.

Sertoli cell tumor cancer

MedGen UID:
880184
Concept ID:
CN235593
Finding
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