The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report.
Hereditary pancreatic neoplasm
Li-Fraumeni syndrome
Pancreatic neuroendocrine tumor
TP53
Journal
BMC cancer
ISSN: 1471-2407
Titre abrégé: BMC Cancer
Pays: England
ID NLM: 100967800
Informations de publication
Date de publication:
30 Mar 2020
30 Mar 2020
Historique:
received:
13
09
2019
accepted:
06
03
2020
entrez:
2
4
2020
pubmed:
2
4
2020
medline:
15
12
2020
Statut:
epublish
Résumé
Li-Fraumeni syndrome is a cancer predisposition syndrome caused by germline TP53 tumor suppressor gene mutations, with no previous association with pancreatic neuroendocrine tumors (PNETs). Here we present the first case of PNET associated with Li-Fraumeni syndrome. This is a 43-year-old female who underwent laparoscopic distal pancreatectomy at age 39 for a well-differentiated grade 2 cystic PNET. When the patient was 41 years old, her seven-year-old daughter was found to have an astrocytoma and a germline TP53 mutation. While undergoing surveillance with This is the first PNET reported in association with Li-Fraumeni syndrome. Pancreatic cancer risk is elevated in this syndrome, and our case highlights the need for vigilance in screening for pancreatic neoplasms in these patients.
Sections du résumé
BACKGROUND
BACKGROUND
Li-Fraumeni syndrome is a cancer predisposition syndrome caused by germline TP53 tumor suppressor gene mutations, with no previous association with pancreatic neuroendocrine tumors (PNETs). Here we present the first case of PNET associated with Li-Fraumeni syndrome.
CASE PRESENTATION
METHODS
This is a 43-year-old female who underwent laparoscopic distal pancreatectomy at age 39 for a well-differentiated grade 2 cystic PNET. When the patient was 41 years old, her seven-year-old daughter was found to have an astrocytoma and a germline TP53 mutation. While undergoing surveillance with
CONCLUSIONS
CONCLUSIONS
This is the first PNET reported in association with Li-Fraumeni syndrome. Pancreatic cancer risk is elevated in this syndrome, and our case highlights the need for vigilance in screening for pancreatic neoplasms in these patients.
Identifiants
pubmed: 32228502
doi: 10.1186/s12885-020-06723-6
pii: 10.1186/s12885-020-06723-6
pmc: PMC7106707
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
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