Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review

Ovarian carcinoma is an extremely rare malignancy in children, often developing on the underlying inherited background. Female carriers of pathogenic germline mutations of SMARCA4 are at risk of an aggressive type of undifferentiated ovarian cancer called small cell carcinoma of the ovary, hypercalc...

Descripción completa

Detalles Bibliográficos
Autores principales: Pastorczak, Agata, Krajewska, Karolina, Urbanska, Zuzanna, Szmyd, Bartosz, Salacinska-Los, Elzbieta, Kobos, Józef, Mlynarski, Wojciech, Trelinska, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484133/
https://www.ncbi.nlm.nih.gov/pubmed/33907931
http://dx.doi.org/10.1007/s10689-021-00258-w
_version_ 1784577254071730176
author Pastorczak, Agata
Krajewska, Karolina
Urbanska, Zuzanna
Szmyd, Bartosz
Salacinska-Los, Elzbieta
Kobos, Józef
Mlynarski, Wojciech
Trelinska, Joanna
author_facet Pastorczak, Agata
Krajewska, Karolina
Urbanska, Zuzanna
Szmyd, Bartosz
Salacinska-Los, Elzbieta
Kobos, Józef
Mlynarski, Wojciech
Trelinska, Joanna
author_sort Pastorczak, Agata
collection PubMed
description Ovarian carcinoma is an extremely rare malignancy in children, often developing on the underlying inherited background. Female carriers of pathogenic germline mutations of SMARCA4 are at risk of an aggressive type of undifferentiated ovarian cancer called small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). Regardless of age of the patient, stage of the disease, and oncological treatment, the prognosis for SCCOHT is poor. Therefore, early intervention with risk-reducing surgeries is recommended for these patients. In this study, we report genetic testing of a family with two children carrying pathogenic germline mutations of SMARCA4 and summarize the course of SCCOHT in all pediatric patients reported in the literature with constitutional defects identified within the SMARCA4 locus. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10689-021-00258-w.
format Online
Article
Text
id pubmed-8484133
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Springer Netherlands
record_format MEDLINE/PubMed
spelling pubmed-84841332021-10-08 Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review Pastorczak, Agata Krajewska, Karolina Urbanska, Zuzanna Szmyd, Bartosz Salacinska-Los, Elzbieta Kobos, Józef Mlynarski, Wojciech Trelinska, Joanna Fam Cancer Short Communication Ovarian carcinoma is an extremely rare malignancy in children, often developing on the underlying inherited background. Female carriers of pathogenic germline mutations of SMARCA4 are at risk of an aggressive type of undifferentiated ovarian cancer called small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). Regardless of age of the patient, stage of the disease, and oncological treatment, the prognosis for SCCOHT is poor. Therefore, early intervention with risk-reducing surgeries is recommended for these patients. In this study, we report genetic testing of a family with two children carrying pathogenic germline mutations of SMARCA4 and summarize the course of SCCOHT in all pediatric patients reported in the literature with constitutional defects identified within the SMARCA4 locus. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10689-021-00258-w. Springer Netherlands 2021-04-28 2021 /pmc/articles/PMC8484133/ /pubmed/33907931 http://dx.doi.org/10.1007/s10689-021-00258-w Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Short Communication
Pastorczak, Agata
Krajewska, Karolina
Urbanska, Zuzanna
Szmyd, Bartosz
Salacinska-Los, Elzbieta
Kobos, Józef
Mlynarski, Wojciech
Trelinska, Joanna
Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review
title Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review
title_full Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review
title_fullStr Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review
title_full_unstemmed Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review
title_short Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review
title_sort ovarian carcinoma in children with constitutional mutation of smarca4: single-family report and literature review
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484133/
https://www.ncbi.nlm.nih.gov/pubmed/33907931
http://dx.doi.org/10.1007/s10689-021-00258-w
work_keys_str_mv AT pastorczakagata ovariancarcinomainchildrenwithconstitutionalmutationofsmarca4singlefamilyreportandliteraturereview
AT krajewskakarolina ovariancarcinomainchildrenwithconstitutionalmutationofsmarca4singlefamilyreportandliteraturereview
AT urbanskazuzanna ovariancarcinomainchildrenwithconstitutionalmutationofsmarca4singlefamilyreportandliteraturereview
AT szmydbartosz ovariancarcinomainchildrenwithconstitutionalmutationofsmarca4singlefamilyreportandliteraturereview
AT salacinskaloselzbieta ovariancarcinomainchildrenwithconstitutionalmutationofsmarca4singlefamilyreportandliteraturereview
AT kobosjozef ovariancarcinomainchildrenwithconstitutionalmutationofsmarca4singlefamilyreportandliteraturereview
AT mlynarskiwojciech ovariancarcinomainchildrenwithconstitutionalmutationofsmarca4singlefamilyreportandliteraturereview
AT trelinskajoanna ovariancarcinomainchildrenwithconstitutionalmutationofsmarca4singlefamilyreportandliteraturereview

Ejemplares similares