{"id":2083,"date":"2023-08-30T21:36:49","date_gmt":"2023-08-30T21:36:49","guid":{"rendered":"https:\/\/isupimagebase.com\/isup\/?post_type=journal-club&p=2083"},"modified":"2023-09-27T13:53:22","modified_gmt":"2023-09-27T13:53:22","slug":"third-quarter-of-2022","status":"publish","type":"journal-club","link":"https:\/\/isupimagebase.com\/isup\/blog\/journal-club\/third-quarter-of-2022\/","title":{"rendered":"THIRD QUARTER OF 2023"},"content":{"rendered":"\n

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\nRenal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome : Clinicopathologic Study of 12 Renal Cell Carcinomas From 9 Patients and Association With Intrarenal “Lipomas”<\/a><\/h4>\n
Authors: 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<\/p>\n
The American Journal of Surgical Pathology. 47(9):1001-1010, September 2023.<\/em><\/p>\n
Précis<\/u><\/p>\n
In this multi-institutional study, the authors reviewed the morphological and clinical data of 12 cases of renal neoplasia from 9 patients with PTEN hamartoma tumor syndrome (PTHS, or Cowden syndrome), of whom 7 and 2 were diagnosed as PHTS based on genetic and clinical criteria, respectively. Patients’ mean age was 41.8 years (range, 7-64 yrs), and male\/female ratio was 0.8. All tumors were RCCs, including 5 chromophobe RCCs (4 classic and 1 multicystic pigmented tumor), 4 papillary RCCs, and 3 RCC-NOS, with consistent immunohistochemical profiles. Both papillary RCCs and RCC-NOS featured variable morphology, with heterogeneous architectural patterns. WHO\/ISUP histologic grade, when applicable, was varying, though mostly low-ranked: G2 (4\/7), G3 (2\/7), G4 (1\/7). Tumor size was T1 in 8\/11 cases (73%), and necrosis was absent in 67% of cases (8\/12). PTEN staining was absent in all cases from this cohort, yet it was reportedly retained in rare RCCs arising in PHTS patients. As background renal parenchyma was assessed, the authors described the presence of incidental microscopic collections of intrarenal adipocytes, which were diagnosed as lipoma\/lipomatous hamartoma after ruling out angiomyolipoma.<\/p>\n
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Comment<\/u><\/p>\n
PTHS, or Cowden syndrome, is a multiple hamartoma syndrome due to germline PTEN mutations, with a higher risk of cancers arising in different sites, mainly breast and thyroid. RCC is 20- to 30-fold more common in these patients as compared to the general population, and is among the minor criteria for the clinical diagnosis of PTHS (10.1093\/jnci\/djt277). According to this series and to the previously reported cases, the most common renal epithelial tumors arising in PTHS patients are papillary and chromophobe RCCs. Currently, RCCs arising in this context are not regarded as a distinct entity according to the latest WHO Classification of renal tumors, 5th Ed., probably due to the lack of specific morphologic features related to the genetic background, as stated by the authors; nevertheless, Cowden syndrome is mentioned among the hereditary forms of chromophobe RCC in the Blue book. Adverse pathological prognostic factors, such as high grade and stage, as well as necrosis were absent in most cases, in keeping with the good clinical outcome. Interestingly, PTEN mutations in sporadic chromophobe RCCs have been associated with poor outcome (10.1038\/s41581-020-0301-x). However, as the authors underline, carcinogenic genetic alterations may not be the same in the syndromic setting as in morphologically similar sporadic tumors. Herein, for the first time the authors describe the presence of small lipomas, or lipomatous hamartomas (i.e. microscopic collections of mature adipocytes) in the renal cortex in 2 patients, and suggest that this might be a clue to this syndrome, thus prompting genetic counseling in the adequate clinical setting. Ruling out “lipid-rich” angiomyolipoma is of pivotal importance, and can be achieved through a combined morphologic and immunohistochemical assessment. Benign hamartomatous overgrowths of adipose tissue, including multiple testicular lipomas, are common in these patients; one could argue that the “lipomas” reported here in the background renal parenchyma (measuring 1 to 3 mm) can easily go unnoticed on gross examination of nephrectomy specimens. Hence, it would be useful to suggest that those specimens from patients diagnosed with, or suspected of having a genetic syndrome, such as PTHS, require (more) meticulous macroscopic and microscopic examination.<\/p>\n
Reviewed by: Francesca Sanguedolce. The authors (Dr. McKenney on behalf) agree with the writeup.<\/p>\n<\/a><\/h4><\/body><\/html>\n","protected":false},"excerpt":{"rendered":"
FREE LINK 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” Authors: 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, … Continue reading THIRD QUARTER OF 2023<\/span> →<\/span><\/a><\/p>\n","protected":false},"featured_media":0,"parent":0,"menu_order":0,"template":"","class_list":["post-2083","journal-club","type-journal-club","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/isupimagebase.com\/isup\/wp-json\/wp\/v2\/journal-club\/2083","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/isupimagebase.com\/isup\/wp-json\/wp\/v2\/journal-club"}],"about":[{"href":"https:\/\/isupimagebase.com\/isup\/wp-json\/wp\/v2\/types\/journal-club"}],"wp:attachment":[{"href":"https:\/\/isupimagebase.com\/isup\/wp-json\/wp\/v2\/media?parent=2083"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}