Adult renal mesenchymal tumors
2022-12-01 Paola Dal Cin, PhD , Michelle S. Hirsch, MD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Keywords
renal angiomyolipoma, renalperivascular epithelioid cell tumor (PEComa)Classification
Definition
The most common adult mesenchymal tumor in the kidney is angiomyolipoma/perivascular epithelioid cell tumor (PEComa). Nevertheless, malignant tumors that typically arise in soft tissue are also being identified with increasing frequency in the kidney (e.g., synovial sarcoma, angiosarcoma, etc), especially with the aid of molecular evaluation. 1 They show histopathological features similar to their soft tissue counterparts. Genetic confirmations 2,3 remain essential for exclusion or confirmation when sarcomas are identified in the kidney. Importantly, a renal cell carcinoma with sarcomatoid differentiation should also be considered/excluded when a spindle cell tumor is encountered in the kidney; strong and diffuse PAX8 expression favors a renal carcinoma; however, rare cases of sarcoma have been shown to express weaker PAX8 expression. More comprehensive details regarding specific sarcoma subtypes are available in the 2020 WHO Soft Tissue and Bone Tumours.
| Adult renal mesenchymal tumors | ||
|---|---|---|
| Classic angiomyolipoma (AML)/PEComa of the kidney | Biallelic inactivation (point mutations, small indels, large genomic deletions, and copy neutral LOH) of TSC2(16p13) OMIM:191091 or, less commonly, TSC1 (9q34 )gene OMIM:191100 has been demonstrated in up to 94% of cases in patients with or without tuberous sclerosis.4-6 | |
| Epithelioid angiomyolipoma(EAML)/Epithelioid PEComa of the kidney | Epitheliod angiomyolipoma (EAML) can occur sporadically or be associated with tuberous sclerosis . PEComas with TFE3 gene rearrangement they occur in young people and retain immunolabelling for tuberin and do not harbour TSC2 gene alterations,7 suggesting a different pathogenetic mechanism in those neoplasms which does not involve the TSC2 gene. SFPQ::IGFBP7 is the most frequent gene partner rearranged with the TFE3 gene.4,8 | |
| Stimulator of interferon genes (STING) expression in almost all PEComa lesions, as a possible useful marker for distinguishing PEComa lesions from MiT family translocation renal cell carcinoma. 4 | ||
| Renal hemangioblastoma | No VHL gene mutation, loss of heterozygosity (LOH) of chromosome 3p or chromosome 3p deletion were detected.9 | |
| Juxtaglomerular cell tumor (JGCT) | Chromosome abnormalities have been described in a few cases using conventional cytogenetics, comparative genomic hybridization (CGH) and interphase FISH, suggesting that the oncogene(s) or tumor suppressor gene(s) responsible for the pathogenesis of JGCT may be localized on chrs. 4 and 10, or chrs. 9 and 11, respectively. 10 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 25773128 | 2015 | Mesenchymal tumors of adult kidney. | Samaratunga H et al |
| 2 | 10935649 | 2000 | Primary renal synovial sarcoma: molecular and morphologic delineation of an entity previously included among embryonal sarcomas of the kidney. | Argani P et al |
| 3 | 11176062 | 2001 | Primary malignant neuroepithelial tumors of the kidney: a clinicopathologic analysis of 146 adult and pediatric cases from the National Wilms' Tumor Study Group Pathology Center. | Parham DM et al |
| 4 | 33131798 | 2021 | Angiomyolipoma of the kidney: from simple hamartoma to complex tumour. | Caliò A et al |
| 5 | 34534018 | 2021 | Tuberous Sclerosis: Current Update. | Wang MX et al |
| 6 | 36256751 | 2026 | Renal Angiomyolipoma. | Rout P et al |
| 7 | 25651471 | 2015 | Dichotomy of Genetic Abnormalities in PEComas With Therapeutic Implications. | Agaram NP et al |
| 8 | 26274027 | 2015 | PSF/SFPQ is a very common gene fusion partner in TFE3 rearrangement-associated perivascular epithelioid cell tumors (PEComas) and melanotic Xp11 translocation renal cancers: clinicopathologic, immunohistochemical, and molecular characteristics suggesting classification as a distinct entity. | Rao Q et al |
| 9 | 29941223 | 2018 | Extraneuraxial hemangioblastoma: A clinicopathologic study of 10 cases with molecular analysis of the VHL gene. | Muscarella LA et al |
| 10 | 22939575 | 2013 | Juxtaglomerular cell tumor: a morphological, immunohistochemical and genetic study of six cases. | Kuroda N et al |
Citation
Paola Dal Cin, PhD ; Michelle S. Hirsch, MD
Adult renal mesenchymal tumors
Atlas Genet Cytogenet Oncol Haematol. 2022-12-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/208974/adult-renal-mesenchymal-tumors
