Update on SWI/SNF-related gynecologic mesenchymal neoplasms: SMARCA4-deficient uterine sarcoma and SMARCB1-deficient vulvar neoplasms

被引：15
作者：
Howitt, Brooke E. [1 ]
Folpe, Andrew L. [2 ]
机构：
[1] Stanford Univ, Dept Pathol, Sch Med, L235 300 Pasteur Dr, Stanford, CA 94305 USA
[2] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA
来源：
GENES CHROMOSOMES & CANCER | 2021年 / 60卷 / 03期
关键词：
SMARCA4; SMARCB1; SWI; SNF; uterine neoplasms; vulvar neoplasms; SMALL-CELL-CARCINOMA; MALIGNANT RHABDOID TUMOR; PRIMARY EPITHELIOID SARCOMA; EXTRASKELETAL MYXOID CHONDROSARCOMA; NEEDLE-ASPIRATION-CYTOLOGY; HYPERCALCEMIC TYPE SCCOHT; CENTRAL-NERVOUS-SYSTEM; SOFT-TISSUE; IMMUNOHISTOCHEMICAL ANALYSIS; MYOEPITHELIAL CARCINOMA;
D O I：
10.1002/gcc.22922
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Our knowledge regarding the role of genes encoding the chromatin remodeling switch/sucrose non-fermenting (SWI/SNF) complex in the initiation and progression of gynecologic malignancies continues to evolve. This review focuses on gynecologic tumors in which the sole or primary genetic alteration is in SMARCA4 or SMARCB1, two members of the SWI/SNF chromatin remodeling complex. In this review, we present a brief overview of the classical example of such tumors, ovarian small cell carcinoma of hypercalcemic type, and then a detailed review and update of SMARCB1-deficient and SMARCA4-deficient tumors of the uterus and vulva.
引用
收藏
页码：190 / 209
页数：20
相关论文
共 8 条
  • [1] SMARCB1-deficient Vulvar Neoplasms A Clinicopathologic, Immunohistochemical, and Molecular Genetic Study of 14 Cases
    Folpe, Andrew L.
    Schoolmeester, J. Kenneth
    McCluggage, W. Glenn
    Sullivan, Lisa M.
    Castagna, Katharine
    Ahrens, William A.
    Oliva, Esther
    Biegel, Jaclyn A.
    Nielsen, G. Petur
    AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2015, 39 (06) : 836 - 849
  • [2] Myoepithelioma-like Tumors of the Vulvar Region A Distinctive Group of SMARCB1-deficient Neoplasms
    Yoshida, Akihiko
    Yoshida, Hiroshi
    Yoshida, Masayuki
    Mori, Taisuke
    Kobayashi, Eisuke
    Tanzawa, Yoshikazu
    Yasugi, Toshiharu
    Kawana, Kei
    Ishikawa, Mitsuya
    Sugiura, Hitoshi
    Maeda, Daichi
    Fukayama, Masashi
    Kawai, Akira
    Hiraoka, Nobuyoshi
    Motoi, Toru
    AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2015, 39 (08) : 1102 - 1113
  • [3] Cytologic Features of SMARCA4-Deficient Thoracic Sarcoma: A Case Report and Comparison with Other SWI/SNF Complex-Deficient Tumors
    Matsushita, Michiko
    Kuwamoto, Satoshi
    ACTA CYTOLOGICA, 2018, 62 (5-6) : 456 - 462
  • [4] SMARCA4-deficient rhabdoid tumours show intermediate molecular features between SMARCB1-deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type
    Andrianteranagna, Mamy
    Cyrta, Joanna
    Masliah-Planchon, Julien
    Nemes, Karolina
    Corsia, Alice
    Leruste, Amaury
    Holdhof, Doerthe
    Kordes, Uwe
    Orbach, Daniel
    Corradini, Nadege
    Entz-Werle, Natacha
    Pierron, Gaelle
    Castex, Marie-Pierre
    Brouchet, Anne
    Weingertner, Noelle
    Ranchere, Dominique
    Freneaux, Paul
    Delattre, Olivier
    Bush, Jonathan
    Leary, Alexandra
    Fruehwald, Michael C.
    Schueller, Ulrich
    Servant, Nicolas
    Bourdeaut, Franck
    JOURNAL OF PATHOLOGY, 2021, 255 (01) : 1 - 15
  • [5] SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome
    Hasselblatt, Martin
    Thomas, Christian
    Federico, Aniello
    Nemes, Karolina
    Johann, Pascal D.
    Bison, Brigitte
    Bens, Susanne
    Dahlum, Sonja
    Kordes, Uwe
    Redlich, Antje
    Lessel, Lienhard
    Pajtler, Kristian W.
    Mawrin, Christian
    Schuller, Ulrich
    Nolte, Kay
    Kramm, Christof M.
    Hinz, Felix
    Sahm, Felix
    Giannini, Caterina
    Penkert, Judith
    Kratz, Christian P.
    Pfister, Stefan M.
    Siebert, Reiner
    Paulus, Werner
    Kool, Marcel
    Fruhwald, Michael C.
    AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2022, 46 (09) : 1277 - 1283
  • [6] The value of SOX2 in the differential diagnosis of SMARCA4 (BRG1)-deficient uterine neoplasms
    Zheng, Lan
    Zhang, Lin
    Wang, Xiaohong Iris
    Katz, Guy
    Tandon, Nidhi
    Zhao, Bihong
    Lucci, Joseph
    Ding, Jianmin
    Zhang, Songlin
    HUMAN PATHOLOGY, 2022, 124 : 45 - 55
  • [7] SWI/SNF Complex-deficient Undifferentiated/Rhabdoid Carcinomas of the Gastrointestinal Tract A Series of 13 Cases Highlighting Mutually Exclusive Loss of SMARCA4 and SMARCA2 and Frequent Co-inactivation of SMARCB1 and SMARCA2
    Agaimy, Abbas
    Daum, Ondrej
    Maerkl, Bruno
    Lichtmannegger, Ines
    Michal, Michal
    Hartmann, Arndt
    AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2016, 40 (04) : 544 - 553
  • [8] Switch/sucrose-non-fermentable (SWI/SNF) complex (SMARCA4, SMARCA2, INI1/SMARCB1)-deficient colorectal carcinomas are strongly associated with microsatellite instability: an incidence study in 4508 colorectal carcinomas
    Ahadi, Mahsa S.
    Fuchs, Talia L.
    Clarkson, Adele
    Sheen, Amy
    Sioson, Loretta
    Chou, Angela
    Gill, Anthony J.
    HISTOPATHOLOGY, 2022, 80 (06) : 906 - 921
1