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
关键词
CREM; EWSR1; EWSR1::CREM 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 22 条
[1]   Inflammatory and Nested Testicular Sex Cord Tumor A Novel Neoplasm With Aggressive Clinical Behavior and Frequent EWSR1::ATF1 Gene Fusions [J].
Acosta, Andres M. ;
Bridge, Julia A. ;
Dal Cin, Paola S. ;
Sholl, Lynette M. ;
Cornejo, Kristine M. ;
Fletcher, Christopher D. M. ;
Ulbright, Thomas M. .
AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2023, 47 (04) :504-517
[2]   Extra-abdominal and intra-abdominal FET::CREM fusion mesenchymal neoplasms: comparative clinicopathological study of 9 new cases further supporting a distinct potentially aggressive sarcoma and report of novel sites [J].
Agaimy, Abbas ;
Blakely, Morgan ;
Breimer, Gerben E. ;
Hoelsken, Annett ;
Koppes, Sjors A. ;
Meidenbauer, Norbert ;
Rijken, Johannes A. ;
Schad, Arno ;
Simon, Adrian G. ;
Stoehr, Robert ;
Bishop, Justin A. ;
Din, Nasir Ud .
VIRCHOWS ARCHIV, 2024, 485 (06) :1007-1019
[3]   EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma [J].
Antonescu, Cristina R. ;
Dal Cin, Paola ;
Nafa, Khedoudja ;
Teot, Lisa A. ;
Surti, Urvashi ;
Fletcher, Christopher D. ;
Ladanyi, Marc .
GENES CHROMOSOMES & CANCER, 2007, 46 (12) :1051-1060
[4]   EWSR1/FUS-CREBfusions define a distinctive malignant epithelioid neoplasm with predilection for mesothelial-lined cavities [J].
Argani, Pedram ;
Harvey, Isabel ;
Nielsen, G. Petur ;
Takano, Angela ;
Suurmeijer, Albert J. H. ;
Voltaggio, Lysandra ;
Zhang, Lei ;
Sung, Yun-Shao ;
Stenzinger, Albrecht ;
Mechtersheimer, Gunhild ;
Dickson, Brendan C. ;
Antonescu, Cristina R. .
MODERN PATHOLOGY, 2020, 33 (11) :2233-2243
[5]   Metastatic Testicular Sex Cord Tumor Harboring a EWSR1::ATF1 Gene Fusion-A Case Report of a Novel Neoplasm: "Inflammatory and Nested Testicular Sex Cord Tumor" [J].
Carrillo-Ng, Hugo ;
Arvanitis, Leonidas ;
Manoukian, Saro ;
Arias-Stella, Javier A. .
INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY, 2024, 32 (04) :830-837
[6]   Molecular Profiling of Hyalinizing Clear Cell Carcinomas Revealed a Subset of Tumors Harboring a Novel EWSR1-CREM Fusion Report of 3 Cases [J].
Chapman, Erin ;
Skalova, Alena ;
Ptakova, Nikola ;
Martinek, Petr ;
Goytain, Angela ;
Tucker, Tracy ;
Xiong, Wei ;
Leader, Mary ;
Kudlow, Brian A. ;
Haimes, Josh D. ;
Hayes, Malcolm M. ;
Bohus, Peter ;
Miesbauerova, Marketa ;
Lee, Cheng-Han ;
Ng, Tony L. .
AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2018, 42 (09) :1182-1189
[7]   CONSERTING: integrating copy-number analysis with structural-variation detection [J].
Chen, Xiang ;
Gupta, Pankaj ;
Wang, Jianmin ;
Nakitandwe, Joy ;
Roberts, Kathryn ;
Dalton, James D. ;
Parker, Matthew ;
Patel, Samir ;
Holmfeldt, Linda ;
Payne, Debbie ;
Easton, John ;
Ma, Jing ;
Rusch, Michael ;
Wu, Gang ;
Patel, Aman ;
Baker, Suzanne J. ;
Dyer, Michael A. ;
Shurtleff, Sheila ;
Espy, Stephen ;
Pounds, Stanley ;
Downing, James R. ;
Ellison, David W. ;
Mullighan, Charles G. ;
Zhang, Jinghui .
NATURE METHODS, 2015, 12 (06) :527-+
[8]   Comprehensive genomic profiling of EWSR1/FUS::CREB translocation-associated tumors uncovers prognostically significant recurrent genetic alterations and methylation-transcriptional correlates [J].
Dermawan, Josephine K. ;
Vanoli, Fabio ;
Herviou, Laurie ;
Sung, Yun-Shao ;
Zhang, Lei ;
Singer, Samuel ;
Tap, William D. ;
Benayed, Ryma ;
Bale, Tejus A. ;
Benhamida, Jamal K. ;
Dickson, Brendan C. ;
Antonescu, Cristina R. .
MODERN PATHOLOGY, 2022, 35 (08) :1055-1065
[9]   A Subset of Malignant Mesotheliomas in Young Adults Are Associated With Recurrent EWSR1/FUS-ATF1 Fusions [J].
Desmeules, Patrice ;
Joubert, Philippe ;
Zhang, Lei ;
Al-Ahmadie, Hikmat A. ;
Fletcher, Christopher D. ;
Vakiani, Efsevia ;
Delair, Deborah F. ;
Rekhtman, Natasha ;
Ladanyi, Marc ;
Travis, William D. ;
Antonescu, Cristina R. .
AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2017, 41 (07) :980-988
[10]   Bambino: a variant detector and alignment viewer for next-generation sequencing data in the SAM/BAM format [J].
Edmonson, Michael N. ;
Zhang, Jinghui ;
Yan, Chunhua ;
Finney, Richard P. ;
Meerzaman, Daoud M. ;
Buetow, Kenneth H. .
BIOINFORMATICS, 2011, 27 (06) :865-866