EWSR1::CREM Fusion in a Pediatric Patient With Testicular Leydig Cell Tumor

被引：0
|
作者：
Lilley, Megan M. [1 ]
Blackburn, Patrick R. [2 ]
Furtado, Larissa V. [2 ]
Pappo, Alberto S. [1 ]
Koo, Selene C. [2 ]
机构：
[1] St Jude Childrens Res Hosp, Dept Oncol, Memphis, TN USA
[2] St Jude Childrens Res Hosp, Dept Pathol, Memphis, TN 38105 USA
来源：
GENES CHROMOSOMES & CANCER | 2025年 / 64卷 / 03期
关键词：
<italic>CREM</italic>; <italic>EWSR1</italic>; <italic>EWSR1::CREM</italic> fusion; Leydig cell tumor; pediatric; sex cord-stromal tumor; testicle; STRUCTURAL-VARIATION; GENE FUSION; MELANOMA; SUBSET;
D O I：
10.1002/gcc.70038
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Sex cord-stromal tumors are rare in pediatric patients. Leydig cell tumors are a rare subset of sex cord-stromal tumors characterized by unique molecular alterations, including TERT fusions and mutations of CTNNB1, FOXO4, TP53, NBN, MTOR, BAP1, MEN1, and CREBBP. We report a case of a testicular Leydig cell tumor with an EWSR1::CREM fusion, which to our knowledge has not been previously reported in this setting.
引用
收藏
页数：5
相关论文
共 50 条
  • [31] Malignant Epidural Spinal Cord Tumor with Neuroendocrine Differentiation Associated with EWSR1/ATF1 Fusion Transcript
    Mohila, C. A.
    Olar, A.
    Roy, A.
    Weindel, M. D.
    Jea, A. H.
    Chintagumpala, M.
    Lopez-Terrada, D.
    Adesina, A. M.
    LABORATORY INVESTIGATION, 2012, 92 : 433A - 433A
  • [32] Malignant Epidural Spinal Cord Tumor with Neuroendocrine Differentiation Associated with EWSR1/ATF1 Fusion Transcript
    Mohila, C. A.
    Olar, A.
    Roy, A.
    Weindel, M. D.
    Jea, A. H.
    Chintagumpala, M.
    Lopez-Terrada, D.
    Adesina, A. M.
    MODERN PATHOLOGY, 2012, 25 : 433A - 433A
  • [33] Intracranial myxoid mesenchymal tumor with EWSR1–CREB1 gene fusion: a case report and literature review
    Masato Komatsu
    Akihiko Yoshida
    Kazuhiro Tanaka
    Kazuya Matsuo
    Takashi Sasayama
    Yasuyuki Kojita
    Tomonori Kanda
    Yoshinori Kodama
    Tomoo Itoh
    Takanori Hirose
    Brain Tumor Pathology, 2020, 37 : 76 - 80
  • [34] Characterization of a novel sarcoma cell line with an EWSR1::POU2AF3 fusion
    Schwab, Hannah
    Kerkhoff, Maximilian
    Plaumann, Pauline
    Collaud, Stephane
    Dirksen, Uta
    Theegarten, Dirk
    Herold, Thomas
    Kalbourtzis, Stavros
    Boeluekbas, Servet
    Hegedues, Balazs
    Hegedues, Luca
    PATHOLOGY & ONCOLOGY RESEARCH, 2025, 31
  • [35] Elucidating the Diagnostic Complexity of Round Cell Sarcoma with EWSR1-CREM Fusion: A Comprehensive Case Study
    Yen, Hao
    Chou, Jian-Liang
    Li, Yao-Feng
    Wang, Der-Shiun
    MEDICINA-LITHUANIA, 2024, 60 (04):
  • [36] Intracranial Myxoid Mesenchymal Tumor with Rare EWSR1-CREM Translocation
    White, Michael D.
    McDowell, Michael M.
    Pearce, Thomas M.
    Bukowinski, Andrew J.
    Greene, Stephanie
    PEDIATRIC NEUROSURGERY, 2019, 54 (05) : 347 - 353
  • [37] Identification of a monophasic epitheioid gastroblastoma with a novel EWSR1:CTBP1 fusion
    Hanks, M.
    MacMahon, S.
    Arthur, A.
    Ibrahim, S.
    Hennig, I.
    McCulloch, T.
    VIRCHOWS ARCHIV, 2024, 485 : S485 - S485
  • [38] Molecular detection and targeting of EWSR1 fusion transcripts in soft tissue tumors
    Monica Cantile
    Laura Marra
    Renato Franco
    Paolo Ascierto
    Giuseppina Liguori
    Annarosaria De Chiara
    Gerardo Botti
    Medical Oncology, 2013, 30
  • [39] Identification of Novel/Rare EWSR1 Fusion Partners in Undifferentiated Mesenchymal Neoplasms
    Salguero-Aranda, Carmen
    Di Blasi, Elena
    Galan, Lourdes
    Zaldumbide, Laura
    Civantos, Gema
    Marcilla, David
    de Alava, Enrique
    Diaz-Martin, Juan
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (03)
  • [40] Gene partners of the EWSR1 fusion may represent molecularly distinct entities
    Walker, Victoria
    Jin, Dexter X.
    Millis, Sherri Z.
    Nasri, Elham
    Corao-Uribe, Diana A.
    Tan, Aik Choon
    Fridley, Brooke L.
    Chen, James L.
    Seligson, Nathan D.
    TRANSLATIONAL ONCOLOGY, 2023, 38
12345