Clinical approach for managing patients with unexpected CDH1 mutations: A case report.
Mol Genet Genomic Med
; 12(7): e2496, 2024 Jul.
Article
en En
| MEDLINE
| ID: mdl-39056403
ABSTRACT
BACKGROUND:
Hereditary diffuse gastric cancer (HDGC) (OMIM# 137215) is an autosomal dominant cancer syndrome associated with CDH1 (OMIM# 192090) mutations. Prophylactic total gastrectomy (PTG) is the most recommended preventive treatment when a pathogenic mutation is found. However, the increasing use of genetic testing has led to the identification of incidental CDH1 mutations in individuals without a family history of gastric cancer. It remains unclear whether these patients should undergo prophylactic total gastrectomy.METHODS:
Germline DNA, obtained from peripheral blood, was analysed by NGS.RESULTS:
A 47-year-old woman was diagnosed with high-grade serous ovarian carcinoma, FIGO stage IIIC, with a Homologous Recombination Deficiency (HRD) GIS status of 78 (positive, cut-off 43). She received chemotherapy and niraparib treatment. A multigene panel test revealed no pathogenic mutations in BRCA1 (OMIM# 113705)/BRCA2 (OMIM# 600185) genes, but a de novo deletion of exon 16 in CDH1 was found incidentally. She had no previous family history of gastric or breast cancer. The patient was enrolled in a surveillance program involving periodic endoscopy and was diagnosed with diffuse gastric cancer through biopsies of a pale area in the antrum after 1 year of close endoscopic follow-up.CONCLUSION:
This case presents supportive evidence for the pathogenic classification of the loss of the last exon of CDH1.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Ováricas
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Neoplasias Gástricas
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Antígenos CD
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Cadherinas
Límite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
Mol Genet Genomic Med
Año:
2024
Tipo del documento:
Article
País de afiliación:
España