Concurrent isolated retroperitoneal HGSC and STIC defined by somatic mutation analysis: a case report.
BRCA2 Protein
/ genetics
Carcinoma in Situ
/ genetics
Cystadenocarcinoma, Serous
/ genetics
DNA Mutational Analysis
Fallopian Tube Neoplasms
/ genetics
Female
Humans
Middle Aged
Mutation
Neoplasms, Second Primary
/ genetics
Retroperitoneal Neoplasms
/ genetics
Tumor Suppressor Protein p53
/ genetics
Case report
Retroperitoneal high-grade serous carcinoma
Serous tubal intraepithelial carcinoma
Somatic mutation
Journal
Diagnostic pathology
ISSN: 1746-1596
Titre abrégé: Diagn Pathol
Pays: England
ID NLM: 101251558
Informations de publication
Date de publication:
11 Feb 2019
11 Feb 2019
Historique:
received:
26
11
2018
accepted:
01
02
2019
entrez:
13
2
2019
pubmed:
13
2
2019
medline:
14
6
2019
Statut:
epublish
Résumé
Retroperitoneal high-grade serous carcinoma (HGSC) is extremely rare and the origin remains unclear. We present a case of retroperitoneal HGSC and coexisting serous tubal intraepithelial carcinoma (STIC), which is considered as the main origin of ovarian HGSC. We reviewed the available literature and discussed about the origin of this rare disease. A 58-year-old female with a 93 × 65 × 62 mm-solid tumor with a cystic part was located immediately dorsal to the rectum underwent bilateral salpingo-oophorectomy, total abdominal hysterectomy, and en bloc resection of the retroperitoneal tumor together with lower anterior resection of the rectum. Histological diagnosis was retroperitoneal HGSC and STIC at the right fallopian tube. Two deleterious somatic mutations in TP53 and BRCA2 genes were shared between retroperitoneal HGSC and STIC. In addition to clinical features in the previous reports, our genetic findings suggest the origin of retroperitoneal HGSC might be STIC.
Sections du résumé
BACKGROUND
BACKGROUND
Retroperitoneal high-grade serous carcinoma (HGSC) is extremely rare and the origin remains unclear. We present a case of retroperitoneal HGSC and coexisting serous tubal intraepithelial carcinoma (STIC), which is considered as the main origin of ovarian HGSC. We reviewed the available literature and discussed about the origin of this rare disease.
CASE PRESENTATION
METHODS
A 58-year-old female with a 93 × 65 × 62 mm-solid tumor with a cystic part was located immediately dorsal to the rectum underwent bilateral salpingo-oophorectomy, total abdominal hysterectomy, and en bloc resection of the retroperitoneal tumor together with lower anterior resection of the rectum. Histological diagnosis was retroperitoneal HGSC and STIC at the right fallopian tube. Two deleterious somatic mutations in TP53 and BRCA2 genes were shared between retroperitoneal HGSC and STIC.
CONCLUSIONS
CONCLUSIONS
In addition to clinical features in the previous reports, our genetic findings suggest the origin of retroperitoneal HGSC might be STIC.
Identifiants
pubmed: 30744657
doi: 10.1186/s13000-019-0795-3
pii: 10.1186/s13000-019-0795-3
pmc: PMC6371506
doi:
Substances chimiques
BRCA2 Protein
0
BRCA2 protein, human
0
TP53 protein, human
0
Tumor Suppressor Protein p53
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
17Subventions
Organisme : Japan Society for the Promotion of Science
ID : JP16H06267
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