Familial Intraductal Papillary Mucinous Neoplasm Associated With the Germline MSH6 Missense Variant and Progression of Pancreatic cancer.
1/5 보강
PICO 자동 추출 (휴리스틱, conf 2/4)
유사 논문P · Population 대상 환자/모집단
추출되지 않음
I · Intervention 중재 / 시술
a distal pancreatectomy and developed pancreatic head cancer 1 year and 6 months postoperatively
C · Comparison 대조 / 비교
추출되지 않음
O · Outcome 결과 / 결론
The mural nodule in the pancreatic body was pathologically diagnosed as a high-grade IPMN with ossification and somatic KRAS and PIK3CA variants. [CONCLUSIONS] This case revealed a possible genetic factor for familial IPMN development and presented interesting clinicopathological findings.
[OBJECTIVES] Intraductal papillary mucinous neoplasm (IPMN) in individuals with at least one first-degree relative with IPMN is defined as familial IPMN.
APA
Tezuka K, Yamakawa M, et al. (2024). Familial Intraductal Papillary Mucinous Neoplasm Associated With the Germline MSH6 Missense Variant and Progression of Pancreatic cancer.. Pancreas, 53(6), e476-e486. https://doi.org/10.1097/MPA.0000000000002313
MLA
Tezuka K, et al.. "Familial Intraductal Papillary Mucinous Neoplasm Associated With the Germline MSH6 Missense Variant and Progression of Pancreatic cancer.." Pancreas, vol. 53, no. 6, 2024, pp. e476-e486.
PMID
38416847 ↗
Abstract 한글 요약
[OBJECTIVES] Intraductal papillary mucinous neoplasm (IPMN) in individuals with at least one first-degree relative with IPMN is defined as familial IPMN. However, few studies have reported on familial IPMN, its clinical characteristics, or the associated genetic factors.
[MATERIALS AND METHODS] We report the case of a 58-year-old woman with multifocal IPMN and a mural nodule in the pancreatic body. The patient underwent a distal pancreatectomy and developed pancreatic head cancer 1 year and 6 months postoperatively. The patient had a family history of multifocal IPMN in her father. Therefore, a genetic predisposition to IPMN and pancreatic cancer was suspected. The patient was analyzed for germline variants, and the resected IPMN was subjected to immunohistochemical and somatic variant analyses.
[RESULTS] Next-generation sequencing revealed a heterozygous germline missense variant in exon 5 of MSH6 (c.3197A>G; Tyr1066Cys). The pathogenicity of this variant of uncertain significance was suspected based on multiple in silico analyses, and the same MSH6 variant was identified in the patient's father's colonic adenoma. The mural nodule in the pancreatic body was pathologically diagnosed as a high-grade IPMN with ossification and somatic KRAS and PIK3CA variants.
[CONCLUSIONS] This case revealed a possible genetic factor for familial IPMN development and presented interesting clinicopathological findings.
[MATERIALS AND METHODS] We report the case of a 58-year-old woman with multifocal IPMN and a mural nodule in the pancreatic body. The patient underwent a distal pancreatectomy and developed pancreatic head cancer 1 year and 6 months postoperatively. The patient had a family history of multifocal IPMN in her father. Therefore, a genetic predisposition to IPMN and pancreatic cancer was suspected. The patient was analyzed for germline variants, and the resected IPMN was subjected to immunohistochemical and somatic variant analyses.
[RESULTS] Next-generation sequencing revealed a heterozygous germline missense variant in exon 5 of MSH6 (c.3197A>G; Tyr1066Cys). The pathogenicity of this variant of uncertain significance was suspected based on multiple in silico analyses, and the same MSH6 variant was identified in the patient's father's colonic adenoma. The mural nodule in the pancreatic body was pathologically diagnosed as a high-grade IPMN with ossification and somatic KRAS and PIK3CA variants.
[CONCLUSIONS] This case revealed a possible genetic factor for familial IPMN development and presented interesting clinicopathological findings.
🏷️ 키워드 / MeSH 📖 같은 키워드 OA만
- Female
- Humans
- Male
- Middle Aged
- Adenocarcinoma
- Mucinous
- Carcinoma
- Pancreatic Ductal
- Disease Progression
- DNA-Binding Proteins
- Genetic Predisposition to Disease
- Germ-Line Mutation
- High-Throughput Nucleotide Sequencing
- Mutation
- Missense
- Pancreatectomy
- Pancreatic Intraductal Neoplasms
- Pedigree
- Proto-Oncogene Proteins p21(ras)
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