Wide morphological spectrums of renal neoplasms with TSC/mTOR, NF2, or monoallelic MUTYH germline mutation
Advances in molecular biology techniques have led to the recognition of more molecularly defined renal entities. However, some molecular-defined renal cell carcinomas (RCC) exhibit heterogeneous morphologies. In recent years, TSC/mTOR and NF2 alterations in renal cancers have attracted considerable...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-03-01
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| Series: | Human Pathology Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772736X23000051 |
| _version_ | 1811160154593296384 |
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| author | Yang Liu Yue Fan Runlin Feng Luting Zhou Yijin Gu Lei Dong Hongmei Yi Xiaoqun Yang Chaofu Wang |
| author_facet | Yang Liu Yue Fan Runlin Feng Luting Zhou Yijin Gu Lei Dong Hongmei Yi Xiaoqun Yang Chaofu Wang |
| author_sort | Yang Liu |
| collection | DOAJ |
| description | Advances in molecular biology techniques have led to the recognition of more molecularly defined renal entities. However, some molecular-defined renal cell carcinomas (RCC) exhibit heterogeneous morphologies. In recent years, TSC/mTOR and NF2 alterations in renal cancers have attracted considerable attention from pathologists, including several renal tumors that have been validated as different entities. The monoallelic MUTYH germline mutation has also recently been demonstrated to be a driver of tumorigenesis, which is relatively enriched in renal cancers and may predict the risk of metastasis. In the current study, we presented seven cases with TSC/mTOR alterations (two with fibromyomatous stroma, one concomitant with ELOC mutation, three eosinophilic solid and cystic RCC, and two RCC, NOS), four cases with NF2 mutations (one concomitant with FH mutation, one biphasic hyalinizing psammomatous RCC, and two RCC, NOS), and two cases with monoallelic MUTYH germline mutations (one collecting duct carcinoma and one papillary RCC). We observed that renal cancers harboring these mutations had a wide morphological spectrum. Renal neoplasms with TSC/mTOR mutations may have an indolent outcome. NF2-mutated RCC appeared to display calcification and sclerotic stroma. The identification of these renal cancers can help reduce the number of tumors diagnosed as RCC, NOS. However, whether they can be grouped into TSC/mTOR, NF2, or MUTYH -associated RCC requires further validation. |
| first_indexed | 2024-04-10T05:52:47Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2772-736X |
| language | English |
| last_indexed | 2024-04-10T05:52:47Z |
| publishDate | 2023-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Human Pathology Reports |
| spelling | doaj.art-4831edcba46347839af6741f3ac3b7d52023-03-04T04:24:18ZengElsevierHuman Pathology Reports2772-736X2023-03-0131300695Wide morphological spectrums of renal neoplasms with TSC/mTOR, NF2, or monoallelic MUTYH germline mutationYang Liu0Yue Fan1Runlin Feng2Luting Zhou3Yijin Gu4Lei Dong5Hongmei Yi6Xiaoqun Yang7Chaofu Wang8Department of Pathology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pathology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pathology, Second Affiliated Hospital of Kunming Medical University, Kunming, ChinaDepartment of Pathology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pathology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Pathology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China; Corresponding authors.Department of Pathology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China; Corresponding authors.Department of Pathology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China; Corresponding authors.Department of Pathology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China; Corresponding authors.Advances in molecular biology techniques have led to the recognition of more molecularly defined renal entities. However, some molecular-defined renal cell carcinomas (RCC) exhibit heterogeneous morphologies. In recent years, TSC/mTOR and NF2 alterations in renal cancers have attracted considerable attention from pathologists, including several renal tumors that have been validated as different entities. The monoallelic MUTYH germline mutation has also recently been demonstrated to be a driver of tumorigenesis, which is relatively enriched in renal cancers and may predict the risk of metastasis. In the current study, we presented seven cases with TSC/mTOR alterations (two with fibromyomatous stroma, one concomitant with ELOC mutation, three eosinophilic solid and cystic RCC, and two RCC, NOS), four cases with NF2 mutations (one concomitant with FH mutation, one biphasic hyalinizing psammomatous RCC, and two RCC, NOS), and two cases with monoallelic MUTYH germline mutations (one collecting duct carcinoma and one papillary RCC). We observed that renal cancers harboring these mutations had a wide morphological spectrum. Renal neoplasms with TSC/mTOR mutations may have an indolent outcome. NF2-mutated RCC appeared to display calcification and sclerotic stroma. The identification of these renal cancers can help reduce the number of tumors diagnosed as RCC, NOS. However, whether they can be grouped into TSC/mTOR, NF2, or MUTYH -associated RCC requires further validation.http://www.sciencedirect.com/science/article/pii/S2772736X23000051TSC/mTORNF2MUTYHRenal cell carcinomaELOC |
| spellingShingle | Yang Liu Yue Fan Runlin Feng Luting Zhou Yijin Gu Lei Dong Hongmei Yi Xiaoqun Yang Chaofu Wang Wide morphological spectrums of renal neoplasms with TSC/mTOR, NF2, or monoallelic MUTYH germline mutation Human Pathology Reports TSC/mTOR NF2 MUTYH Renal cell carcinoma ELOC |
| title | Wide morphological spectrums of renal neoplasms with TSC/mTOR, NF2, or monoallelic MUTYH germline mutation |
| title_full | Wide morphological spectrums of renal neoplasms with TSC/mTOR, NF2, or monoallelic MUTYH germline mutation |
| title_fullStr | Wide morphological spectrums of renal neoplasms with TSC/mTOR, NF2, or monoallelic MUTYH germline mutation |
| title_full_unstemmed | Wide morphological spectrums of renal neoplasms with TSC/mTOR, NF2, or monoallelic MUTYH germline mutation |
| title_short | Wide morphological spectrums of renal neoplasms with TSC/mTOR, NF2, or monoallelic MUTYH germline mutation |
| title_sort | wide morphological spectrums of renal neoplasms with tsc mtor nf2 or monoallelic mutyh germline mutation |
| topic | TSC/mTOR NF2 MUTYH Renal cell carcinoma ELOC |
| url | http://www.sciencedirect.com/science/article/pii/S2772736X23000051 |
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