NF2-mutated Renal Carcinomas Have Common Morphologic Features Which Overlap With Biphasic Hyalinizing Psammomatous Renal Cell Carcinoma: A Comprehensive Study of 14 Cases, The American Journal of Surgical Pathology: May 2022 – Volume 46 – Issue 5 – p 617-627 doi: 10.1097\/PAS.0000000000001846<\/p>\n
Paintal, Ajit MD*; Tjota, Melissa Y. MD, PhD†; Wang, Peng MD, PhD†; Fitzpatrick, Carrie PhD†; Wanjari, Pankhuri PhD†; Stadler, Walter M. MD‡; Gallan, Alexander J. MD§; Segal, Jeremy MD, PhD†; Antic, Tatjana MD†<\/p>\n
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https:\/\/journals.lww.com\/ajsp\/Fulltext\/2022\/05000\/NF2_mutated_Renal_Carcinomas_Have_Common.4.aspx<\/a><\/p>\n Précis<\/em><\/p>\n With the advances of molecular pathology, more and more molecularly defined types of renal cell carcinoma are being described. Renal cell carcinoma (RCC) with NF2 alterations have shown to be associated with poor prognosis and potentially responsive to targeted therapy. The goal of this timely article is to provide clinicopathological characteristics of 14 identified cases of renal cell carcinoma with NF2 mutations. Most of the tumors were previously diagnosed as papillary or unclassified RCC, had tubulopapillary or solid architecture, coagulative necrosis, psammomatous calcifications and consistently areas with relatively abundant eosinophilic cytoplasm and high WHO\/ISUP nuclear grade. Stromal sclerosis was a common feature. The morphological features of a subset of their cases overlapped with the description of biphasic hyalinizing psammomatous RCC, which also harbors NF2 alterations. Disappointingly, these tumors showed a non-specific and variable immunophenotype. The clinical follow-up data supports the aggressive clinical course of this tumor and is notable for significant response to immunotherapy in two patients.<\/p>\n Comment<\/em><\/p>\n The authors mention that cases of RCC with NF2 alterations in their series have distinct but nonspecific morphology and no specific immunophenotype. As molecular methods are not routinely used in the diagnostics of renal tumors, it remains unclear if it is possible to reliably make or at least suggest this diagnosis of renal cell carcinoma with NF2 alteration based on the tumor morphology and immunophenotype. In this study, 600 nephrectomies were reviewed and 29 cases were selected for further studies from which 6 had NF2 alterations. However, the authors do not mention the criteria used for their case selection. Adding more clinicopathological data to the knowledge base of this entity will lay further foundation to develop an appropriate diagnostic algorithm. If RCC with NF2 alterations is a distinct entity, more coherent morphological and \/ or immunophenotypic criteria on selecting cases for sequencing will be necessary.<\/p>\n Reviewer: Oleksandr Kravtsov, MD<\/p>\n The author responds (Dr. Ajit Paintal):<\/em><\/p>\n We largely agree with the summary. The findings are distinctive as described, but relatively nonspecific. Especially in regards to IHC. It is possible that merlin IHC may have value as a tool to identify these cases, but this has yet to be investigated.<\/p>\n That being said, the senior author of our paper, TA, prospectively identified the final case in our series based on the morphologic findings after having reviewed the prior cases.<\/p>\n In addition to their aggressive disease course, recognizing cases with bilallelic NF2 loss may have value as a predictive marker to select therapeutics. As seen anecdotally in our series and in emerging phase II data, these tumors may respond well to regimens containing immune checkpoint inhibitors.<\/p>\n<\/body><\/html>\n","protected":false},"excerpt":{"rendered":" NF2-mutated Renal Carcinomas Have Common Morphologic Features Which Overlap With Biphasic Hyalinizing Psammomatous Renal Cell Carcinoma: A Comprehensive Study of 14 Cases, The American Journal of Surgical Pathology: May 2022 – Volume 46 – Issue 5 – p 617-627 doi: 10.1097\/PAS.0000000000001846 Paintal, Ajit MD*; Tjota, Melissa Y. MD, PhD†; Wang, Peng MD, PhD†; Fitzpatrick, Carrie … Continue reading SECOND QUARTER OF 2022<\/span>