Academic Journal
Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome ; Clinicopathologic Study of 12 Renal Cell Carcinomas From 9 Patients and Association With Intrarenal “Lipomas”
| العنوان: | Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome ; Clinicopathologic Study of 12 Renal Cell Carcinomas From 9 Patients and Association With Intrarenal “Lipomas” |
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| المؤلفون: | Kozman, Diana, Kao, Chia-Sui, Nguyen, Jane K., Smith, Steven C., Kehr, Elizabeth L., Tretiakova, Maria, Przybycin, Christopher G., Williamson, Sean R., Argani, Pedram, Eng, Charis, Campbell, Steven C., McKenney, Jesse K., Alaghehbandan, Reza |
| المصدر: | American Journal of Surgical Pathology ; volume 47, issue 9, page 1001-1010 ; ISSN 0147-5185 |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health) |
| سنة النشر: | 2023 |
| الوصف: | The aim of this study was to assess the histopathologic spectrum of renal tumors in patients with PTEN hamartoma tumor syndrome (PHTS), with a specific focus on potential features predictive of the underlying syndrome. A multi-institutional study was conducted to obtain clinical and pathologic data on renal tumors arising in patients with PHTS, either diagnosed by germline mutational analysis or clinical criteria for Cowden syndrome. Histologic sections of the renal tumors were re-reviewed for classification. Twelve renal epithelial tumors from 9 patients were identified (4 males and 5 females, with a mean age of 41.8 y), 7 of whom carried germline PTEN mutations. All 12 renal epithelial tumors were renal cell carcinomas (RCCs): 5 were chromophobe RCCs, 4 papillary RCCs, and 3 RCC not otherwise specified. Pathologic stage distribution was: 7 (59%) pT1a, 2 (17%) pT1b, 1 (8%) pT2a, 1 (8%) pT2b, and 1 (8%) pT3a. World Health Organization/International Society of Urological Pathology (WHO/ISUP) histologic grade was applicable in 7 (54%) nonchromophobe tumors: 4 (57%) G2, 2 (29%) G3, and 1 (14%) G4. An unexpected histologic finding was the presence of 2 patients with incidental microscopic collections of intrarenal adipocytes that had no features of angiomyolipoma (and were negative with 2 sensitive PEComa markers: cathepsin-K and GPNMB); both were classified as lipoma/“lipomatous hamartomas.” The average follow-up interval was 67.8 months (13 to 172 mo): 5 patients had no evidence of disease, 2 were lost to follow-up, 1 died of other (non-PHTS) causes (ie, prostate cancer), and 1 was alive with metastatic RCC to the lung (RCC not otherwise specified with rhabdoid differentiation). All tumors showed loss of nuclear PTEN staining by immunohistochemistry. Fumarate hydratase was retained and 2SC was negative in all papillary RCCs. CK7 was moderate-strong/diffuse positive in 4 of 5 chromophobe RCCs and in 3 of 4 papillary RCCs. Renal epithelial tumors associated with PHTS represent a heterogeneous group of RCCs, but ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1097/pas.0000000000002079 |
| DOI: | 10.1097/PAS.0000000000002079 |
| الاتاحة: | http://dx.doi.org/10.1097/pas.0000000000002079 https://journals.lww.com/10.1097/PAS.0000000000002079 |
| رقم الانضمام: | edsbas.40CC3E59 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1097/pas.0000000000002079 |
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