ETV6 rearrangements in patients with infantile fibrosarcomas and congenital mesoblastic
nephromas by FISH.
Among 20(18.87%) cases of malignant neoplastic lesions, 12(11.32%) were renal cell carcinoma, 5(4.72%) were Wilm's tumor, 1(0.94%) case each of clear cell sarcoma kidney, congenital mesoblastic
nephroma & transitional cell carcinoma.
13: Distribution of cases PATHOLOGIES NO % WILMSTUMOUR 6 21 MESOBLASTIC
NEPHROMA 2 7 NEUROBLASTOMA 7 24 EXTRA ADRENAL 1 4 GANGLIONEUROBLASTOMA HEPATOBLASTOMA 3 10 EPITHELOID 1 4 HEMANGIOENDOTHELIOM A HEP HEMANGIOMA 4 14 OVARIAN TERATOMA 2 7 SPL HAMARTOMA 1 3 MCRP TERATOMA 1 3 SACROCOCCYGEAL 2 3 TERATOMA total 30 100 Distribution WT 21% MBN 7% NB 24% GNB 4% HB 10% EHE 4% 14% 7% 3% 3% 3% Note: Table made from pie chart.
nephroma first described by Bolande et al.
Solid mixed epithelial and stromal tumors also need to be distinguished from mesoblastic
nephroma and metanephric adenofibroma.
The ETV6-NTRK3 gene fusion has previously been detected in pediatric malignant mesenchymal tumors (congenital fibrosarcoma and congenital cellular mesoblastic
Congenital fibrosarcoma is another spindle cell sarcoma associated with a characteristic cytogenetic change, the t(12;15)(p13;q26) translocation, not found in adult fibrosarcomas or other sarcomas (123,124) and identical to that described for congenital mesoblastic
(3-11) These tumors have been published under the following names in the literature: leiomyomatous renal hamartomas, congenital mesoblastic
nephroma in an adult, cystic hamartoma of renal pelvis, solitary multilocular cysts of the kidney, multilocular renal cyst with mullerian-like stroma, and adult metanephric stromal tumor.
(2) Other renal tumors of childhood have been associated with recurring genetic abnormalities: deletion or mutations of WT1 and p53 in some Wilms tumors, t (12;15) creating the ETV6-NTRK3 fusion gene in congenital mesoblastic
nephroma, and INI1 deletions or mutations in malignant rhabdoid tumors.
The differential diagnosis for mesoblastic
nephroma includes (Figure 1): a.
Pathologic Diagnosis: Mesoblastic
Nephroma, Classic Type