Other renal tumors
2023-02-16 Paola Dal Cin, PhD , Michelle S. Hirsch, MD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Classification
Definition
An "Other Renal Tumors" category was added to the recent 2022 WHO Urinary and Male Genital Tumours. This is group of well-established entities that do not fit well into other subgroups, and include Clear Cell Tubulopapillary Renal Tumor, Mucinous Tubular and Spindle Cell Carcinoma, Tubulocystic RCC, Acquired-Cystic Disease-Associated RCC, Eosinophilic Solid and Cystic RCC and RCC, NOS/Unclassified. Each of these renal neoplasms, except RCC, NOS/Unclassified, have distinct morphologic, immunophenotypic, cytogenetic and molecular alterations. Clear cell tubulopapillary renal tumor is a benign neoplasm, whereas the remainder are considered malignant.
| Other renal carcinomas | Genetic marker(s) |
|---|---|
| Clear cell papillary renal cell tumor (CCPRCT ) | Genetic studies of clear cell papillary renal cell carcinomas are sparse.1,2 Normal status of VHL gene (methylation, LOH3p, mutation) and trisomy 7 and 17 are not characteristic features. 3 However, infrequent VHL alterations have been noted by others and various chromosomal aberrations have been deomstrated. 2,4 In addition, CCPRCT–like tumors have been described in the setting of von Hippel–Lindau (VHL) syndrome. 5 Therefore, the presence of VHL mutations/3p deletions cannot be used as a diagnostic feature of CCPRCT |
| Targeted next-generation sequencing (NGS) technology identified several common tumour-associated mutation ‘hot-spots’ in MET, PTEN, ERBB4, STK11 , ASXL1, ATM 6,7 and the miRNA expression profile of CCPRCT shows some overlapping characteristics between CCRCC and PRCC 7,8 | |
| Mucinous tubular and spindle cell carcinoma (MTSCC) | Multiple chromosomal losses genetically characterizethis rebal lesion , which can be detected with either conventional karyotype, microarray analysis (CGH or SNP), or FISH analysis. The most commonly lost chromosomes in MTSCC include 1, 4, 6, 8, 9, 13,14, 15, and 22. A more variable pattern with multiple losses and gains have been also describd but not all of these chromosomes are lost in all cases.9-11 Aggressive locally advanced or metastatic cases show addtional chromosomal alterations and homozygous loss of CDKN2A/CDKN2B.12 |
| Biallelic alterations and somatic mutations of Hippo pathway tumor suppressor genes, with PTPN14, NF2 and SAV1, being the most commonly altered.10 | |
| Tubulocystic renal cell carcinoma (TC-RCC) | A papillary RCC variant was, in the past, suggested because of the initial findings of gains of 7 and 17 and Y-loss or only trisomy 17 . 13,14 However, recent studies have failed to confirm such relationship. 14,15 Chromosome 9 loss and chromosome 17 gain were consistently identified across all “pure” TC-RCC by copy number analysis. 16,17 |
| Rare cases haves been reported with ABL1 and PDGFRA. 18 | |
| Acquired cystic diseases-associated renal cell carcinoma | Numerical abnormalities (gain/loss) of chrs. 3 and 16 with gains of chrs 7 and 17 by FISH and microarray analysis. 19 |
| Eosinophilic solid and cystic renal cell carcinoma (ESC-RCC) | ESC-RCCs are solitary, small tumors with indole behavior found predominantly in females. They are associated with biallelic loss or mutations of either the TSC1 or TSC2 gene,20-22 with and without tuberous sclerosis complex (TSC) OMIM:191100 |
| Frequent gains were found at 16p13-16q23, 7p21-7q36, 13q14, and 19p12 and frequent losses at Xp11.21 and 22q11. LOH alterations were identified at 16p11.2-11.1, Xq11- 13, Xq13-21, 11p11, 9q21-22, and 9q33. 23 | |
| Renal cell carcinoma, NOS | Particularly aggressive clinical behavior of tumors with NF2 loss via several mechanisms. 24 |
| 3% to 5% renal carcinomas remain unclassified, even after multiple immunohistochemical (IHC) stains , FISH analysis and moleculare techniques to determine if they could be reclassified to any of the nowestablished renal categories. 25 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 33223139 | 2021 | Clear cell papillary renal cell carcinoma: an update after 15 years. | Williamson SR et al |
| 2 | 35008576 | 2021 | Characteristics of Clear Cell Papillary Renal Cell Carcinoma (ccpRCC). | Rysz J et al |
| 3 | 30672334 | 2019 | Clear Cell Papillary Renal Cell Carcinoma. | Zhao J et al |
| 4 | 31175917 | 2019 | Clear cell papillary renal cell carcinoma: molecular profile and virtual karyotype. | Morlote DM et al |
| 5 | 25081542 | 2014 | Clear cell papillary renal cell carcinoma in patients with von Hippel-Lindau syndrome--clinicopathological features and comparative genomic analysis of 3 cases. | Rao P et al |
| 6 | 23887297 | 2014 | Gene expression profiling of clear cell papillary renal cell carcinoma: comparison with clear cell renal cell carcinoma and papillary renal cell carcinoma. | Fisher KE et al |
| 7 | 24155122 | 2014 | Targeted next-generation sequencing and non-coding RNA expression analysis of clear cell papillary renal cell carcinoma suggests distinct pathological mechanisms from other renal tumour subtypes. | Lawrie CH et al |
| 8 | 24703100 | 2014 | Clear cell papillary renal cell carcinoma: micro-RNA expression profiling and comparison with clear cell renal cell carcinoma and papillary renal cell carcinoma. | Munari E et al |
| 9 | 26009022 | 2015 | Mucinous spindle and tubular renal cell carcinoma: analysis of chromosomal aberration pattern of low-grade, high-grade, and overlapping morphologic variant with papillary renal cell carcinoma. | Peckova K et al |
| 10 | 27604489 | 2016 | Biallelic Alteration and Dysregulation of the Hippo Pathway in Mucinous Tubular and Spindle Cell Carcinoma of the Kidney. | Mehra R et al |
| 11 | 29462091 | 2018 | Distinct Genomic Copy Number Alterations Distinguish Mucinous Tubular and Spindle Cell Carcinoma of the Kidney From Papillary Renal Cell Carcinoma With Overlapping Histologic Features. | Ren Q et al |
| 12 | 32879414 | 2021 | Adverse histology, homozygous loss of CDKN2A/B, and complex genomic alterations in locally advanced/metastatic renal mucinous tubular and spindle cell carcinoma. | Yang C et al |
| 13 | 19898225 | 2009 | Renal tubulocystic carcinoma is closely related to papillary renal cell carcinoma: implications for pathologic classification. | Zhou M et al |
| 14 | 26447894 | 2016 | Molecular Genetic Alterations in Renal Cell Carcinomas With Tubulocystic Pattern: Tubulocystic Renal Cell Carcinoma, Tubulocystic Renal Cell Carcinoma With Heterogenous Component and Familial Leiomyomatosis-associated Renal Cell Carcinoma. Clinicopathologic and Molecular Genetic Analysis of 15 Cases. | Ulamec M et al |
| 15 | 26310887 | 2016 | Tubulocystic renal cell carcinoma is an entity that is immunohistochemically and genetically distinct from papillary renal cell carcinoma. | Tran T et al |
| 16 | 22369180 | 2012 | Synchronous clear cell renal cell carcinoma and tubulocystic carcinoma: genetic evidence of independent ontogenesis and implications of chromosomal imbalances in tumor progression. | Quiroga-Garza G et al |
| 17 | 30622286 | 2019 | Tubulocystic renal cell carcinoma: a distinct clinicopathologic entity with a characteristic genomic profile. | Sarungbam J et al |
| 18 | 29056573 | 2018 | Noncoding RNA Expression and Targeted Next-Generation Sequencing Distinguish Tubulocystic Renal Cell Carcinoma (TC-RCC) from Other Renal Neoplasms. | Lawrie CH et al |
| 19 | 29517200 | 2017 | Acquired cystic disease-associated renal cell carcinoma: a clinicopathological study of seven cases. | Kuroda N et al |
| 20 | 25093518 | 2014 | Tuberous sclerosis-associated renal cell carcinoma: a clinicopathologic study of 57 separate carcinomas in 18 patients. | Guo J et al |
| 21 | 26414221 | 2016 | Eosinophilic, Solid, and Cystic Renal Cell Carcinoma: Clinicopathologic Study of 16 Unique, Sporadic Neoplasms Occurring in Women. | Trpkov K et al |
| 22 | 29975249 | 2018 | Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations: Molecular Analysis Supports an Expanding Clinicopathologic Spectrum. | Palsgrove DN et al |
| 23 | 28786877 | 2017 | Eosinophilic Solid and Cystic Renal Cell Carcinoma (ESC RCC): Further Morphologic and Molecular Characterization of ESC RCC as a Distinct Entity. | Trpkov K et al |
| 24 | 27713405 | 2016 | Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets. | Chen YB et al |
| 25 | 33239504 | 2021 | Contemporary Characterization and Recategorization of Adult Unclassified Renal Cell Carcinoma. | Kwon R et al |
Citation
Paola Dal Cin, PhD ; Michelle S. Hirsch, MD
Other renal tumors
Atlas Genet Cytogenet Oncol Haematol. 2023-02-16
Online version: http://atlasgeneticsoncology.org/solid-tumor/209007/other-renal-tumors
