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An aggressive systemic mastocytosis preceded by ovarian dysgerminoma
BACKGROUND: Aggressive systemic mastocytosis (ASM) is a rare malignant disease characterized by disordered mast cell accumulation in various organs. We here describe a female ASM patient with a previous history of ovarian dysgerminoma. METHODS: Molecular cytogenomic analyses were performed to elucid...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693501/ https://www.ncbi.nlm.nih.gov/pubmed/33246418 http://dx.doi.org/10.1186/s12885-020-07653-z |
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author | Tsutsumi, Makiko Miura, Hiroki Inagaki, Hidehito Shinkai, Yasuko Kato, Asuka Kato, Takema Hamada-Tsutsumi, Susumu Tanaka, Makito Kudo, Kazuko Yoshikawa, Tetsushi Kurahashi, Hiroki |
author_facet | Tsutsumi, Makiko Miura, Hiroki Inagaki, Hidehito Shinkai, Yasuko Kato, Asuka Kato, Takema Hamada-Tsutsumi, Susumu Tanaka, Makito Kudo, Kazuko Yoshikawa, Tetsushi Kurahashi, Hiroki |
author_sort | Tsutsumi, Makiko |
collection | PubMed |
description | BACKGROUND: Aggressive systemic mastocytosis (ASM) is a rare malignant disease characterized by disordered mast cell accumulation in various organs. We here describe a female ASM patient with a previous history of ovarian dysgerminoma. METHODS: Molecular cytogenomic analyses were performed to elucidate an etiological link between the ASM and dysgerminoma of the patient. RESULTS: This patient was affected by ovarian dysgerminoma which was treated by chemotherapy and surgical resection. Having subsequently been in complete remission for 2 years, she developed symptoms of ASM. A somatic D816A mutation in the KIT gene was detected in her bone marrow, which facilitated the diagnosis of ASM. Unexpectedly, this KIT D816A variant was also detected in the prior ovarian dysgerminoma sample. Whole-exome sequencing allowed us to identify a somatic nonsense mutation of the TP53 gene in the bone marrow, but not in the dysgerminoma. Microarray analysis of the patient’s bone marrow revealed a copy-number-neutral loss of heterozygosity at the TP53 locus, suggestive of the homozygous nonsense mutation in the TP53 gene. In addition, the loss of heterozygosity at the TP53 locus was also detected in the dysgerminoma. CONCLUSIONS: These results indicated that either the mast cells causing the ASM in this case had originated from the preceding ovarian dysgerminoma as a clonal evolution of a residual tumor cell, which acquired the TP53 mutation, or that both tumors developed from a common cancer stem cell carrying the KIT D816A variation. |
format | Online Article Text |
id | pubmed-7693501 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-76935012020-11-30 An aggressive systemic mastocytosis preceded by ovarian dysgerminoma Tsutsumi, Makiko Miura, Hiroki Inagaki, Hidehito Shinkai, Yasuko Kato, Asuka Kato, Takema Hamada-Tsutsumi, Susumu Tanaka, Makito Kudo, Kazuko Yoshikawa, Tetsushi Kurahashi, Hiroki BMC Cancer Research Article BACKGROUND: Aggressive systemic mastocytosis (ASM) is a rare malignant disease characterized by disordered mast cell accumulation in various organs. We here describe a female ASM patient with a previous history of ovarian dysgerminoma. METHODS: Molecular cytogenomic analyses were performed to elucidate an etiological link between the ASM and dysgerminoma of the patient. RESULTS: This patient was affected by ovarian dysgerminoma which was treated by chemotherapy and surgical resection. Having subsequently been in complete remission for 2 years, she developed symptoms of ASM. A somatic D816A mutation in the KIT gene was detected in her bone marrow, which facilitated the diagnosis of ASM. Unexpectedly, this KIT D816A variant was also detected in the prior ovarian dysgerminoma sample. Whole-exome sequencing allowed us to identify a somatic nonsense mutation of the TP53 gene in the bone marrow, but not in the dysgerminoma. Microarray analysis of the patient’s bone marrow revealed a copy-number-neutral loss of heterozygosity at the TP53 locus, suggestive of the homozygous nonsense mutation in the TP53 gene. In addition, the loss of heterozygosity at the TP53 locus was also detected in the dysgerminoma. CONCLUSIONS: These results indicated that either the mast cells causing the ASM in this case had originated from the preceding ovarian dysgerminoma as a clonal evolution of a residual tumor cell, which acquired the TP53 mutation, or that both tumors developed from a common cancer stem cell carrying the KIT D816A variation. BioMed Central 2020-11-27 /pmc/articles/PMC7693501/ /pubmed/33246418 http://dx.doi.org/10.1186/s12885-020-07653-z Text en © The Author(s) 2020 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/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Article Tsutsumi, Makiko Miura, Hiroki Inagaki, Hidehito Shinkai, Yasuko Kato, Asuka Kato, Takema Hamada-Tsutsumi, Susumu Tanaka, Makito Kudo, Kazuko Yoshikawa, Tetsushi Kurahashi, Hiroki An aggressive systemic mastocytosis preceded by ovarian dysgerminoma |
title | An aggressive systemic mastocytosis preceded by ovarian dysgerminoma |
title_full | An aggressive systemic mastocytosis preceded by ovarian dysgerminoma |
title_fullStr | An aggressive systemic mastocytosis preceded by ovarian dysgerminoma |
title_full_unstemmed | An aggressive systemic mastocytosis preceded by ovarian dysgerminoma |
title_short | An aggressive systemic mastocytosis preceded by ovarian dysgerminoma |
title_sort | aggressive systemic mastocytosis preceded by ovarian dysgerminoma |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693501/ https://www.ncbi.nlm.nih.gov/pubmed/33246418 http://dx.doi.org/10.1186/s12885-020-07653-z |
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