Pediatric mesenchymal renal tumors
2024-10-08 Paola Dal Cin, PhD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Keywords
mesenchymal renal tumor,Classification
Definition
Malignant tumors that typically arise in soft tissue are also being recognized with increasing frequency in the kidney. See also details WHO 2020 Bone and Soft Tissue Tumours. However, a few specific distinct entities have been identified only in kidney. The clinical behavior varies from benign or locally aggressive lesions like mesoblastic nephroma to highly aggressive such as rhabdoid tumor and clear cell sarcoma of kidney. See also details in the WHO 2022 Urinary and Male Genital Tumours
| Pediatric mesenchymal renal tumors | Genetic marker(s) |
|---|---|
| Ossifying renal tumour of infancy (ORTI) | Rare benign lesions with trisomy 4, as the sole aberration 1,2 |
| Congenital mesoblastic nephroma(CMN) | A cannonical cryptic ETV6::NTRK3 fusion has been described in most cellular and a subset of mixed congenital mesoblastic nephromas. 3 Alternative NTRK3 partner genes, and alternative gene fusions, involving NTRK1, RET, and BRAF have been reported. EGFR internal tandem duplication (ITD) has been detected as alterative aberration. 4 |
| Clear cell sarcoma of the kidney (CCSK) | BCOR internal tandem duplication (ITD) on the exon 16 has been reported in the majority of the cases, 5 while a minority have YWHAE :: NUTM2B/E fusion, as result from a t(10;17)(q22;p13) fusion, 6 or rarely BCOR ::CCNB3 fusion, 7 with lack of other consistent structural alterations. Not surprise, patients with both BCOR ITD and TP53 deletion had the poorest prognosis. 8 The BCOR (BCL6 corepressor) gene is located on chromosome Xp11.4 band, which is is probably the reason for the higher incidence of CCSK in male. |
| Malignant rhabdoid tumour of the kidney (MRTK) | The driver alteration in rhabdoid tumorsis a biallelic inactivation of SMARCB1 at 22q11.2.9 Somatic or germline SMARCB1 mutations, which can be detected also by loss of SMARCB1/INI1 IHC nuclear staining, 10 Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a markedly increased risk of developing rhabdoid tumors.11 |
| Anaplastic sarcoma of the kidney (ASK) | Anaplastic sarcomas of the kidney have both sporadic and germline DICER1 mutations, as cystic nephromas.12 Another DICER1-associated tumor based on identification of DICER1 mutations. 13 |
| Renal Ewing sarcoma (EWS) | Renal Ewing sarcoma (EWS) morphology is identical to those tumors arising in other bone /soft tissue locations, but historically have been associated with an aggressive clinical course. In the kidney, it can be misdiagnosed due to similarities with more prevalent small round cell tumors in childhood, such as Wilms tumor or rhabdoid tumor of the kidney 14. In challenging cases, identification of EWSR1 rearrangement may be helpful. 15,16 See also details WHO 2020 Bone and Soft Tissue Tumours |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 22976287 | 2013 | Clonal trisomy 4 cells detected in the ossifying renal tumor of infancy: study of 3 cases. | Liu J et al |
| 2 | 27633911 | 2016 | Ossifying renal tumor of infancy (ORIT): The clinicopathological and cytogenetic feature of two cases and literature review. | Guan W et al |
| 3 | 28124468 | 2017 | Congenital mesoblastic nephroma 50 years after its recognition: A narrative review. | Gooskens SL et al |
| 4 | 33183728 | 2020 | Pediatric Renal Tumors: Updates in the Molecular Era. | Treece AL et al |
| 5 | 26098867 | 2015 | Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney. | Ueno-Yokohata H et al |
| 6 | 26542179 | 2016 | The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney. | Gooskens SL et al |
| 7 | 36533315 | 2023 | Clear Cell Sarcoma of the Kidney (CCSK) With BCOR-CCNB3 Fusion: A Rare Case Report With a Brief Review of the Literature. | Dorwal P et al |
| 8 | 36563883 | 2023 | Clinical relevance of BCOR internal tandem duplication and TP53 aberration in clear cell sarcoma of the kidney. | Zhang M et al |
| 9 | 33840529 | 2021 | SWI/SNF-deficient neoplasms of the genitourinary tract. | Sirohi D MD et al |
| 10 | 30709441 | 2019 | SWI/SNF Complex-Deficient Soft Tissue Neoplasms: A Pattern-Based Approach to Diagnosis and Differential Diagnosis. | Agaimy A et al |
| 11 | 29215836 | 1993 | Rhabdoid Tumor Predisposition Syndrome. | Nemes K et al |
| 12 | 28862265 | 2018 | Anaplastic sarcomas of the kidney are characterized by DICER1 mutations. | Wu MK et al |
| 13 | 34515577 | 2022 | Anaplastic Sarcoma of the Kidney With Heterologous Ganglioneuroblastic Differentiation: Another DICER1-Associated Tumor. | Kroll-Wheeler L et al |
| 14 | 28429277 | 2018 | Primary Ewing Sarcoma / Primitive Neuroectodermal Tumor of the Kidney: A Clinicopathologic Study of 23 Cases. | Murugan P et al |
| 15 | 23374800 | 2013 | Ewing sarcoma of the kidney: case series and literature review of an often overlooked entity in the diagnosis of primary renal tumors. | Rowe RG et al |
| 16 | 32282650 | 2020 | Primary Renal Ewing Sarcoma in Children and Young Adults. | Bradford K et al |
Citation
Paola Dal Cin, PhD
Pediatric mesenchymal renal tumors
Atlas Genet Cytogenet Oncol Haematol. 2024-10-08
Online version: http://atlasgeneticsoncology.org/solid-tumor/209270/pediatric-mesenchymal-renal-tumors
