TY - JOUR
T1 - Extrarenal Anaplastic Wilms Tumor
T2 - A Case Report with Genomic Analysis and Tumor Models
AU - Willis, Kelsi R.
AU - Sathe, Adwait A.
AU - Xing, Chao
AU - Koduru, Prasad
AU - Artunduaga, Maddy
AU - Butler, Erin
AU - Park, Jason Y.
AU - Kurmasheva, Raushan T.
AU - Houghton, Peter J.
AU - Chen, Kenneth S.
AU - Rakheja, Dinesh
N1 - Funding Information:
P.J.H., D.R., and E.B.B. are supported by CPRIT grant RP160716. D.R. and K.S.C. are supported by NIH/NCI SPORE P50CA196516. K.S.C. is also supported by NIH/NCI grant 5K08CA207849. D.R. is also supported by the John Lawrence and Patsy Louise Goforth Chair in Pathology endowment.
Publisher Copyright:
© 2022 Lippincott Williams and Wilkins. All rights reserved.
PY - 2022
Y1 - 2022
N2 - Primary extrarenal Wilms tumors are rare neoplasms that are presumed to arise from metanephric or mesonephric remnants outside of the kidney. Their pathogenesis is debated but has not been studied, and there are no reports of genomic descriptions of extrarenal Wilms tumors. We describe a diffusely anaplastic extrarenal Wilms tumor that occurred in the lower abdomen and upper pelvis of a 10-year-old boy. In addition to the clinical, histopathologic, and radiologic features, we describe the cytogenetic changes and exomic profile of the tumor. The tumor showed loss of the tumor suppressor AMER1, loss of chromosome regions 1p, 16q, and 22q, gain of chromosome 8, and loss of function TP53 mutation - findings known to occur in renal Wilms tumors. This is the first description of the exomic profile of a primary extrarenal Wilms tumor. Our data indicate that primary extrarenal Wilms tumors may follow the same pathogenetic pathways that are seen in renal Wilms tumors. Finally, we describe the establishment of first ever tumor models (primary cell line and patient-derived xenograft) from an extrarenal Wilms tumor.
AB - Primary extrarenal Wilms tumors are rare neoplasms that are presumed to arise from metanephric or mesonephric remnants outside of the kidney. Their pathogenesis is debated but has not been studied, and there are no reports of genomic descriptions of extrarenal Wilms tumors. We describe a diffusely anaplastic extrarenal Wilms tumor that occurred in the lower abdomen and upper pelvis of a 10-year-old boy. In addition to the clinical, histopathologic, and radiologic features, we describe the cytogenetic changes and exomic profile of the tumor. The tumor showed loss of the tumor suppressor AMER1, loss of chromosome regions 1p, 16q, and 22q, gain of chromosome 8, and loss of function TP53 mutation - findings known to occur in renal Wilms tumors. This is the first description of the exomic profile of a primary extrarenal Wilms tumor. Our data indicate that primary extrarenal Wilms tumors may follow the same pathogenetic pathways that are seen in renal Wilms tumors. Finally, we describe the establishment of first ever tumor models (primary cell line and patient-derived xenograft) from an extrarenal Wilms tumor.
KW - AMER1
KW - WTX
KW - cell line
KW - extrarenal Wilms tumor
KW - patient-derived xenograft
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U2 - 10.1097/MPH.0000000000002413
DO - 10.1097/MPH.0000000000002413
M3 - Article
C2 - 35129140
AN - SCOPUS:85125893707
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
SN - 1077-4114
ER -