1/5. Detection of the ETV6-NTRK3 chimeric rna of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue: application to challenging pediatric renal stromal tumors.We report the development of a reverse transcriptase polymerase chain reaction assay that reliably detects the ETV6-NTRK3 chimeric rna characteristic of infantile fibrosarcoma and the cellular variant of congenital mesoblastic nephroma (CMN) in formalin-fixed, paraffin-embedded tissue blocks. The 188 base pair polymerase chain reaction fusion product was detected in 11 of 12 cases of cellular CMN from which a larger sized control rna band could be amplified, and even in 7 of 8 cases in which the control band was not detectable. A variety of other tumors that are in the histologic differential diagnosis of cellular CMN yielded negative results, including four classic CMNs, four rhabdoid tumors of the kidney, and four clear cell sarcomas of the kidney, confirming the assay's specificity. We further demonstrate the assay's utility by illustrating two cases of molecularly confirmed cellular CMN that mimicked rhabdoid tumor and clear cell sarcoma of the kidney. In contrast to previous reports, five mixed CMNs that had both classic and cellular areas all lacked the ETV6-NTRK3 fusion transcript. These results suggest that cases morphologically defined as mixed CMN may represent a mixed group of genetically distinct entities.- - - - - - - - - - ranking = 1keywords = nephroma (Clic here for more details about this article) |
2/5. Intrarenal solitary fibrous tumor of the kidney report of a case with emphasis on the differential diagnosis in the wide spectrum of monomorphous spindle cell tumors of the kidney.Solitary fibrous tumor (SFT) is a neoplasm that can occur in the urogenital tract, and is also reported occurring in the spermatic cord, seminal vesicles, urinary bladder, prostate, and kidney. Furthermore, it is most important to consider its existence in the kidney, because it is usually diagnosed as renal cell carcinoma pre-operatively. To our knowledge, only 10 cases of SFT have been reported in the kidney to date. We report the clinico-pathological features of an intrarenal SFT occurring in a 31-year-old woman. The tumor, measuring 8.6 cm in its greatest diameter, completely replaced the cortex and the medulla of the middle region of the right kidney, compressing the pelvis. Radiological imaging was consistent with a renal cell carcinoma. Histologically, the tumor was composed of a proliferation of bland-looking vimentin , CD34 , bcl2 and CD99 spindle cells exhibiting a haphazard to storiform growth pattern, pushing borders, and a low mitotic rate (2 mitoses x 10 HPF). We placed emphasis on the differential diagnostic problems, i.e., its differentiation from other primary monomorphous benign and malignant spindle cell tumors of the kidney, such as fibroma, benign fibrous histiocytoma, hemangiopericytoma, inflammatory myofibroblastic (pseudo-)tumor, leiomyoma, angiomyolipoma with predominant spindle cell smooth muscle component, benign peripheral nerve sheath tumors, renal mixed epithelial/stromal tumors, adult type mesoblastic nephroma, fibrous type monophasic synovial sarcoma, malignant peripheral nerve sheath tumors, fibrosarcoma, and low-grade fibromyxoid sarcoma.- - - - - - - - - - ranking = 0.2keywords = nephroma (Clic here for more details about this article) |
3/5. Cellular mesoblastic nephroma: morphologic, cytogenetic and molecular links with congenital fibrosarcoma.Congenital mesoblastic nephroma (CMN) is a rare renal tumor of early infancy with a favorable outcome after complete surgical removal. CMN consists of a heterogeneous group of spindle cell tumors subdivided into "classical", "cellular or atypical" and "mixed" forms based on histologic features. We describe a new case of cellular CMN diagnosed by antenatal ultrasonography with complete remission five years after nephrectomy. Cytogenetic study evidenced a trisomy 11, and real time RT-PCR, but not conventional karyotype, allowed for the detection of the Tel-ETV6/TrkC-NTRK3 fusion transcript as a consequence of a cryptic t(12-15)(p13;q25). As in congenital fibrosarcoma (CFS), two Tel-ETV6/ TrkC-NTRK3 fusion transcripts different by a 42 bp insert in the TrkC kinase domain were expressed. Our observations outline the close links between cellular CMN and CFS. Both tumors have the clinical presentation and histologic features as well as identical cytogenetic and molecular markers in common. Therefore, they are likely to represent the same neoplasm, but occurring at different locations.- - - - - - - - - - ranking = 1keywords = nephroma (Clic here for more details about this article) |
4/5. Non-resectable congenital tumors with the ETV6-NTRK3 gene fusion are highly responsive to chemotherapy.BACKGROUND: Recently, the ETV6-NTRK3 gene fusion has been identified in both infantile fibrosarcoma and cellular mesoblastic nephroma. For both these tumors standard curative treatment has been primarily surgical with wide local excision. This has frequently involved radical and even mutilating surgery. PROCEDURE: This report discusses three infants with congenital tumors, two congenital fibrosarcomas, and one atypical congenital mesoblastic nephroma, not easily amenable to surgical intervention. RESULTS: All three were treated with pre-operative chemotherapy with excellent responses negating the need for amputation in two patients. In each patient, the ETV6-NTRK3 gene fusion was identified by reverse transcriptase-polymerase chain reaction (RT-PCR) in the tumor specimens. CONCLUSIONS: Our findings suggest that the ETV6-NTRK3 gene fusion may underlie the distinctive biological properties of these tumors and may also indicate tumor chemosensitivity. In this group of patients pre-operative chemotherapy may abrogate the need for morbid surgical procedures.- - - - - - - - - - ranking = 0.4keywords = nephroma (Clic here for more details about this article) |
5/5. trisomy 11 and other nonrandom trisomies in congenital fibrosarcoma.Chromosome studies in a 7-week-old female infant with an intraabdominal malignant fibrosarcoma showed a hyperdiploid karyotype of 50,XX, der(6)del(6)(p23)add(6)(q11), 8, 10, 11,add(12)(p13). trisomy 11 appears to be a nonrandom primary cytogenetic abnormality in the congenital or infantile form of this mesenchymal tumor and is also a nonrandom gain in congenital mesoblastic nephroma. A possible developmental link between these two mesenchymal tumors, mediated by a gene or genes on chromosome 11 is postulated.- - - - - - - - - - ranking = 0.2keywords = nephroma (Clic here for more details about this article) |