Endometrial/Endometrioid Stromal Tumors With Extensive Whorling and CTNNB1 Translocation

被引:2
|
作者
Boyraz, Baris [1 ,5 ]
Paula, Arnaud da Cruz [2 ]
Deveraux, Kelly A. [4 ]
Tran, Ivy [4 ]
da Silva, Edaise M. [3 ]
Young, Robert H. [1 ]
Snuderl, Matija [4 ]
Weigelt, Britta [3 ]
Oliva, Esther [1 ]
机构
[1] Harvard Med Sch, Massachusetts Gen Hosp, Dept Pathol, James Homer Wright Pathol Labs, Boston, MA USA
[2] Mem Sloan Kettering Canc Ctr, Dept Surg, New York, NY USA
[3] Mem Sloan Kettering Canc Ctr, Dept Pathol & Lab Med, New York, NY USA
[4] NYU, Langone Med Ctr, Dept Pathol, New York, NY USA
[5] Massachusetts Gen Hosp, Dept Pathol, 55 Fruit St,Warren Bldg, Boston, MA 02114 USA
关键词
endometrial stromal tumor; CTNNB1; beta-catenin; MENINGOTHELIAL-LIKE WHORLS; NUCLEAR BETA-CATENIN; ENDOMETRIAL; SARCOMAS; FEATURES; DIFFERENTIATION; LIPOSARCOMA; EXPRESSION; NEOPLASMS; UTERUS;
D O I
10.1097/PAS.0000000000002094
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Endometrial/endometrioid stromal tumors are rare and morphologically heterogenous, and their diagnosis may be challenging. We identified 3 endometrial/endometrioid stromal tumors with identical and previously undescribed histologic features and herein report their morphologic, immunohistochemical, and molecular profiles. Patients were 53, 62, and 79 years. Tumors were well-circumscribed, tan-yellow solid masses measuring 10.0, 11.0, and 18.7 cm, and were intramyometrial (n=2) or in the broad ligament (n=1). All showed small, tight whorls of epithelioid to slightly spindled tumor cells with minimal cytoplasm and negligible mitoses, multifocally associated with hyalinization and myxoid change set in a loose fibroblastic background with small, delicate vessels. This morphology was seen throughout in 1 tumor and in similar to 20% and 70% of the 2 others with the remaining areas showing sex cord-like differentiation. Tumor cells expressed CD10 (3/3, 1 focal), calretinin (3/3 diffuse), WT1 (3/3 diffuse), estrogen receptor (1/1, diffuse). RNA-sequencing was successful in 1 tumor and revealed a GREB1-CTNNB1 in-frame fusion. All 3 tumors harbored a CTNNB1 translocation by fluorescence in situ hybridization correlating with nuclear beta-catenin expression. Whole-genome DNA methylation analysis classified all 3 tumors within the low-grade endometrial stromal sarcoma reference class with flat copy number profiles. One patient (79-y-old) died of unrelated causes 2 months after surgery and the other 2 were alive without disease after 13 and 75 months. We have described a rare subset of endometrial/endometrioid stromal tumors with extensive whorling and a CTNNB1 translocation, expanding the morphologic and molecular spectrum of these neoplasms.
引用
收藏
页码:1285 / 1290
页数:6
相关论文
共 50 条
  • [21] CTNNB1 (Beta Catenin) Mutation Identifies Patients with Grades 1 or 2 Endometrioid-Type Endometrial Carcinoma at Risk of Recurrence
    Kurnit, Katherine
    Fellman, Bryan
    Urbauer, Diana
    Mills, Gordon
    Broaddus, Russell
    MODERN PATHOLOGY, 2016, 29 : 292A - 293A
  • [22] FGFR2 Point Mutations in 466 Endometrioid Endometrial Tumors: Relationship with MSI, KRAS, PIK3CA, CTNNB1 Mutations and Clinicopathological Features
    Byron, Sara A.
    Gartside, Michael
    Powell, Matthew A.
    Wellens, Candice L.
    Gao, Feng
    Mutch, David G.
    Goodfellow, Paul J.
    Pollock, Pamela M.
    PLOS ONE, 2012, 7 (02):
  • [23] Clinicopathological features and prognostic significance of CTNNB1 mutation in low-grade, early-stage endometrial endometrioid carcinoma
    Ruz-Caracuel, Ignacio
    Lopez-Janeiro, Alvaro
    Heredia-Soto, Victoria
    Ramon-Patino, Jorge L.
    Yebenes, Laura
    Berjon, Alberto
    Hernandez, Alicia
    Gallego, Alejandro
    Ruiz, Patricia
    Redondo, Andres
    Pelaez-Garcia, Alberto
    Mendiola, Marta
    Hardisson, David
    VIRCHOWS ARCHIV, 2021, 479 (06) : 1167 - 1176
  • [24] Clinicopathological features and prognostic significance of CTNNB1 mutation in low-grade, early-stage endometrial endometrioid carcinoma
    Ignacio Ruz-Caracuel
    Álvaro López-Janeiro
    Victoria Heredia-Soto
    Jorge L. Ramón-Patino
    Laura Yébenes
    Alberto Berjón
    Alicia Hernández
    Alejandro Gallego
    Patricia Ruiz
    Andrés Redondo
    Alberto Peláez-García
    Marta Mendiola
    David Hardisson
    Virchows Archiv, 2021, 479 : 1167 - 1176
  • [25] Investigation of BRAFand CTNNB1 activating mutations in adrenocortical tumors
    G. Masi
    E. Lavezzo
    M. Iacobone
    G. Favia
    G. Palù
    L. Barzon
    Journal of Endocrinological Investigation, 2009, 32 : 597 - 600
  • [26] Investigation of BRAF and CTNNB1 activating mutations in adrenocortical tumors
    Masi, G.
    Lavezzo, E.
    Iacobone, M.
    Favia, G.
    Palu, G.
    Barzon, L.
    JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2009, 32 (07) : 597 - 600
  • [27] Loss of CDYL Results in Suppression of CTNNB1 and Decreased Endometrial Receptivity
    Zhou, Xiaowei
    Xu, Bufang
    Zhang, Dan
    Jiang, Xiaoping
    Chang, Hsun-Ming
    Leung, Peter C. K.
    Xia, Xiaoyu
    Zhang, Aijun
    FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2020, 8
  • [28] The role of matrix metalloproteinases (MMPs) and CTNNB1 mutations in endometrial carcinoma
    Berger, Amnon A.
    Levine, Douglas A.
    Kawaler, Emily
    CANCER RESEARCH, 2019, 79 (13)
  • [29] Decreased expression of KLF6 in ectopic endometrial stromal cells contributes to endometriosis progression by targeting CTNNB1
    Shi, Jingwen
    Jing, Wenda
    He, Yueyun
    Huang, Ying
    CELLULAR SIGNALLING, 2024, 120
  • [30] CTNNB1 p.L31P mutation in an ovarian endometrioid carcinoma with synchronous uterine endometrioid carcinoma
    Pecorella, Irene
    Coppa, Anna
    Nicolussi, Arianna
    Manganaro, Lucia
    Fiorentin, Francesco
    Palaia, Innocenza
    Muzii, Ludovico
    PATHOLOGY RESEARCH AND PRACTICE, 2020, 216 (12)