Literature DB >> 27745735

All things rhabdoid and SMARC: An enigmatic exploration with Dr. Louis P. Dehner.

Christine E Fuller1.   

Abstract

Over the past several decades, our understanding of malignant rhabdoid tumors (MRT) and the central nervous system equivalent atypical teratoid/rhabdoid tumor (ATRT) has undergone considerable refinement, particularly in terms of genetic characterization. MRT (both renal and extra-renal) and ATRT share phenotypic similarities and a common genetic signature, that being inactivating alterations of the SWI/SNF complex component SMARCB1 (or rarely SMARCA4). Unfortunately, a wide array of tumors bears significantly overlapping phenotypic characteristics to MRT/ATRT, posing a formidable diagnostic challenge. Likewise, the list of tumors bearing SMARC-related alterations has grown at a dizzying pace, and the original assumption that SMARCB1 alterations were unique to MRT/ATRT has been essentially negated. It should come as no surprise that Dr. Louis P. Dehner, no stranger to enigmatic lesions, participated significantly in this pathologic controversy, and the circuitous journey of entity discovery and clarification. This review aims to (1) summarize our current knowledge of MRT and ATRT with an emphasis on genetic characterization, (2) present insight into so-called "composite rhabdoid tumors" (CRTs), and (3) and provide an updated account of others tumors bearing SMARC alterations.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Atypical teratoid/rhabdoid tumor; Cribriform neuroepithelial tumor; Epithelioid sarcoma; Rhabdoid tumor; SMARC; Small cell carcinoma of the ovary; hypercalcemic type

Mesh:

Year:  2016        PMID: 27745735     DOI: 10.1053/j.semdp.2016.08.003

Source DB:  PubMed          Journal:  Semin Diagn Pathol        ISSN: 0740-2570            Impact factor:   3.464


  5 in total

Review 1.  [Solid pediatric tumors : A brief survey of the rarity cabinet].

Authors:  B Gürtl-Lackner; D Gisselsson-Nord; G Vujanic
Journal:  Pathologe       Date:  2017-07       Impact factor: 1.011

Review 2.  INI1-Deficient Thyroid Carcinoma is an Aggressive Disease with Epithelioid and Rhabdoid Phenotype. A Case Report, Survey of INI1 Expression in Thyroid Lesions and Literature Review.

Authors:  Zhonghua Liu; Mukund Seshadri; Vishal Gupta; Antonios Papanicolau-Sengos; Mihai Merzianu
Journal:  Head Neck Pathol       Date:  2021-05-31

3.  Comprehensive Molecular Characterization Identifies Distinct Genomic and Immune Hallmarks of Renal Medullary Carcinoma.

Authors:  Pavlos Msaouel; Gabriel G Malouf; Xiaoping Su; Hui Yao; Durga N Tripathi; Melinda Soeung; Jianjun Gao; Priya Rao; Cristian Coarfa; Chad J Creighton; Jean-Philippe Bertocchio; Selvi Kunnimalaiyaan; Asha S Multani; Jorge Blando; Rong He; Daniel D Shapiro; Luigi Perelli; Sanjana Srinivasan; Federica Carbone; Patrick G Pilié; Menuka Karki; Riyad N H Seervai; Bujamin H Vokshi; Dolores Lopez-Terrada; Emily H Cheng; Ximing Tang; Wei Lu; Ignacio I Wistuba; Timothy C Thompson; Irwin Davidson; Virginia Giuliani; Katharina Schlacher; Alessandro Carugo; Timothy P Heffernan; Padmanee Sharma; Jose A Karam; Christopher G Wood; Cheryl L Walker; Giannicola Genovese; Nizar M Tannir
Journal:  Cancer Cell       Date:  2020-04-30       Impact factor: 31.743

4.  Histologic and genomic features of breast cancers with alterations affecting the SWI/SNF (SMARC) genes.

Authors:  Christopher J Schwartz; Fresia Pareja; Edaise M da Silva; Pier Selenica; Dara S Ross; Britta Weigelt; Edi Brogi; Jorge S Reis-Filho; Hannah Y Wen
Journal:  Mod Pathol       Date:  2021-06-02       Impact factor: 7.842

5.  SMARCA4-Deficient Thoracic Sarcomatoid Tumors Represent Primarily Smoking-Related Undifferentiated Carcinomas Rather Than Primary Thoracic Sarcomas.

Authors:  Natasha Rekhtman; Joseph Montecalvo; Jason C Chang; Deepu Alex; Ryan N Ptashkin; Ni Ai; Jennifer L Sauter; Brie Kezlarian; Achim Jungbluth; Patrice Desmeules; Amanda Beras; Justin A Bishop; Andrew J Plodkowski; Mrinal M Gounder; Adam J Schoenfeld; Azadeh Namakydoust; Bob T Li; Charles M Rudin; Gregory J Riely; David R Jones; Marc Ladanyi; William D Travis
Journal:  J Thorac Oncol       Date:  2019-11-18       Impact factor: 15.609

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.