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Myoid gonadal stromal tumours are characterised by recurrent chromosome-level copy number gains: molecular assessment of a multi-institutional series
K. Collins, LM. Sholl, S. Siegmund, BC. Dickson, M. Colecchia, K. Michalová, M. Hwang, TM. Ulbright, CS. Kao, GJLH. van Leenders, V. Mehta, K. Trpkov, A. Yilmaz, A. Cimadamore, A. Matoso, JI. Epstein, F. Maclean, E. Comperat, WJ. Anderson, CDM....
Language English Country England, Great Britain
Document type Multicenter Study, Journal Article
PubMed
36226695
DOI
10.1111/his.14825
Knihovny.cz E-resources
- MeSH
- Chromosomes metabolism MeSH
- Adult MeSH
- Sex Cord-Gonadal Stromal Tumors * genetics pathology MeSH
- Middle Aged MeSH
- Humans MeSH
- S100 Proteins MeSH
- Testicular Neoplasms * pathology MeSH
- DNA Copy Number Variations MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
Myoid gonadal stromal tumours (MGST) represent a rare type of testicular sex cord-stromal tumour that has recently been recognised as a distinct entity by the World Health Organization (WHO) classification of genitourinary tumours. MGSTs affect adult men and have been reported to behave in an indolent fashion. Histologically, MGSTs are pure spindle cell neoplasms that coexpress SMA and S100 protein. Given that the molecular features of these neoplasms remain largely undescribed, we evaluated a multi-institutional series of MGSTs using DNA and RNA sequencing. This study included 12 tumours from 12 patients aged 28 to 57 years. Tumour sizes ranged from 0.6 to 4.3 cm. Aggressive histologic features, such as vascular invasion, necrosis, invasive growth, and atypical mitoses were invariably absent. Mitotic activity was low, with a median of less than 1 mitosis per 10 high power fields (HPF; maximum: 3 mitoses per 10 HPF). Molecular analyses did not identify recurrent mutations or gene fusions. All cases with interpretable copy number variant data (9/10 cases sequenced successfully) demonstrated a consistent pattern of chromosome arm-level and whole-chromosome-level copy number gains indicative of ploidy shifts, with recurrent gains involving chromosomes 3, 6, 7, 8, 9, 11, 12, 14q, 15q, 17, 18q, 20, and 21q. Similar findings have also been recognised in pure spindle cell and spindle-cell predominant sex cord-stromal tumours without S100 protein expression. MGSTs are characterised by ploidy shifts and may be part of a larger spectrum of spindle cell-predominant sex cord-stromal tumours, including cases without S100 protein expression.
Departments of Pathology of Brigham and Women's Hospital and Harvard Medical School Boston MA USA
Departments of Pathology of Douglass Hanly Moir Pathology and Macquarie University Sydney Australia
Departments of Pathology of Erasmus University Medical Center Rotterdam The Netherlands
Departments of Pathology of Fondazione IRCCS Istituto Nazionale dei Tumori Milan Italy
Departments of Pathology of Indiana University School of Medicine Indianapolis IN USA
Departments of Pathology of Mount Sinai Hospital University of Toronto Toronto ON Canada
Departments of Pathology of Polytechnic University of The Marche Region Ancona Italy
Departments of Pathology of Stanford University Stanford CA USA
Departments of Pathology of Tenon Hospital and Sorbonne University Paris France
Departments of Pathology of The Johns Hopkins Medical Institutions Baltimore MD USA
Departments of Pathology of University of Illinois at Chicago Chicago IL USA
Departments of Pathology of Univerzita Karlova Plzen Czech Republic
References provided by Crossref.org
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- $a Myoid gonadal stromal tumours (MGST) represent a rare type of testicular sex cord-stromal tumour that has recently been recognised as a distinct entity by the World Health Organization (WHO) classification of genitourinary tumours. MGSTs affect adult men and have been reported to behave in an indolent fashion. Histologically, MGSTs are pure spindle cell neoplasms that coexpress SMA and S100 protein. Given that the molecular features of these neoplasms remain largely undescribed, we evaluated a multi-institutional series of MGSTs using DNA and RNA sequencing. This study included 12 tumours from 12 patients aged 28 to 57 years. Tumour sizes ranged from 0.6 to 4.3 cm. Aggressive histologic features, such as vascular invasion, necrosis, invasive growth, and atypical mitoses were invariably absent. Mitotic activity was low, with a median of less than 1 mitosis per 10 high power fields (HPF; maximum: 3 mitoses per 10 HPF). Molecular analyses did not identify recurrent mutations or gene fusions. All cases with interpretable copy number variant data (9/10 cases sequenced successfully) demonstrated a consistent pattern of chromosome arm-level and whole-chromosome-level copy number gains indicative of ploidy shifts, with recurrent gains involving chromosomes 3, 6, 7, 8, 9, 11, 12, 14q, 15q, 17, 18q, 20, and 21q. Similar findings have also been recognised in pure spindle cell and spindle-cell predominant sex cord-stromal tumours without S100 protein expression. MGSTs are characterised by ploidy shifts and may be part of a larger spectrum of spindle cell-predominant sex cord-stromal tumours, including cases without S100 protein expression.
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