Clinical, Pathologic, and Genetic Features of Wilms Tumors With WTX Gene Mutation.
Pediatr Dev Pathol
; 20(2): 105-111, 2017.
Article
in En
| MEDLINE
| ID: mdl-28326956
Clinical and pathologic features of patients with WTX-mutated Wilms tumor (WT) have not been studied in detail. We characterize the clinical and pathologic findings in WT with WTX abnormalities and provide comparison with WT without WTX mutation. Clinical, gross, and microscopic features in 35 patients with WT were examined. Karyotype was examined in a subset of cases. All cases had been previously analyzed for WTX, WT1, and CTNNB1 aberrations via array comparative genomic hybridization; OncoMap 4 high throughput genotyping was performed on 18 cases. Eleven tumors had WTX abnormality. No significant differences were identified between patients with mutated versus nonmutated WTX with respect to gender (45% versus 33% male), age (mean 3.9 versus 4.1 years), tumor size (mean 12.7 cm versus 12.8 cm), anaplasia (9% versus 12%), rhabdomyoblastic differentiation (18% versus 8%), cartilage differentiation (9% versus 4%), mucinous epithelial differentiation (9% versus 4%), nephrogenic rests (28% versus 21%), or relapse rate (11% versus 25%). Mutations in KRAS, MYC, and PIK3R1 were restricted to WTX-mutated WT, mutations in AKT, CKDN2A, EFGR, HRAS, MET, and RET were restricted to WT without WTX mutation, and mutations in BRAF, CTTNB1, NRAS, PDGFRA, and STK11 were seen in both groups. Our study revealed no clinical or pathologic distinctions between WT with and without WTX abnormality. This similarity lends support to the concept of a common tumorigenic pathway between WT with aberrant WTX and those without.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Wilms Tumor
/
Tumor Suppressor Proteins
/
Adaptor Proteins, Signal Transducing
Type of study:
Observational_studies
/
Prognostic_studies
Limits:
Child
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Child, preschool
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Female
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Humans
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Infant
/
Male
Language:
En
Journal:
Pediatr Dev Pathol
Year:
2017
Document type:
Article