A Direct Comparison of Patients With Hereditary and Sporadic Pancreatic Neuroendocrine Tumors: Evaluation of Clinical Course, Prognostic Factors and Genotype–Phenotype Correlations

Autor: Agnieszka Pawlaczek, Alexander Jorge Cortez, Tomasz Bednarczuk, Przemysław Soczomski, Stanisław Zgliczyński, Malgorzata Oczko-Wojciechowska, Natalia Rogozik, Aleksandra Krzywon, Barbara Jarzab, Beata Jurecka-Lubieniecka
Rok vydání: 2021
Předmět:
Adult
Male
Oncology
medicine.medical_specialty
Endocrinology
Diabetes and Metabolism
030209 endocrinology & metabolism
genotype-phenotype correlation
Neuroendocrine tumors
pancreatic neuroendocrine tumor
Diseases of the endocrine glands. Clinical endocrinology
Frameshift mutation
03 medical and health sciences
Endocrinology
0302 clinical medicine
Germline mutation
Von Hippel–Lindau Syndrome
Internal medicine
Humans
Medicine
Missense mutation
MEN1
Stage (cooking)
Genetic Association Studies
hereditary pancreatic neuroendocrine tumor (PNET)
Retrospective Studies
Original Research
business.industry
multiple neuroendocrine neoplasia type 1
Retrospective cohort study
Middle Aged
Prognosis
RC648-665
medicine.disease
Pancreatic Neoplasms
Neuroendocrine Tumors
comparison
030220 oncology & carcinogenesis
Mutation
Cohort
Disease Progression
Female
business
Zdroj: Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in Endocrinology
ISSN: 1664-2392
DOI: 10.3389/fendo.2021.681013
Popis: IntroductionPancreatic neuroendocrine tumors (PNETs) in hereditary syndromes pose a significant challenge to clinicians. The rarity of these syndromes and PNETs itself make it difficult to directly compare them with sporadic PNETs. Despite research suggesting differences between these two entities, the same approach is used in hereditary and sporadic PNETs.MethodsWe included 63 patients with hereditary PNET (GpNET) and 145 with sporadic PNET (SpNET) in a retrospective observational study. Clinical and genetic data were collected in two Polish endocrine departments from January 2004 to February 2020. Only patients with confirmed germline mutations were included in the GpNET cohort. We attempted to establish prognostic factors of metastases and overall survival in both groups and genotype–phenotype correlations in the GpNET group.ResultsPatients with GpNET were younger and diagnosed earlier, whereas their tumors were smaller and more frequently multifocal compared with patients with SpNET. Metastases occurred more frequently in the SpNET group, and their appearance was associated with tumor size in both groups. GpNET patients had longer overall survival (OS). OS was affected by age, age at diagnosis, sex, grade, stage, tumor diameter, occurrence and localization of metastases, type of treatment, and comorbidities. In the MEN1 group, carriers of frameshift with STOP codon, splice site, and missense mutations tended to have less advanced disease, while patients with mutations in exon 2 tended to have metastases more frequently.ConclusionsDirect comparisons of GpNET and SpNET demonstrate significant differences in the clinical courses of both entities, which should force different approaches. A larger group of patients with GpNET should be assessed to confirm genotype–phenotype correlations.
Databáze: OpenAIRE
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