Long Survival and Prolonged Remission after Surgery and Chemotherapy in a Metastatic Mismatch Repair Deficient Pancreatic Neuroendocrine Carcinoma with MLH1/PMS2 Immunodeficiency and Minimal Microsatellite Shift.

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State: Public
Version: Author's accepted manuscript
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Serval ID
serval:BIB_A4D4D4798B1C
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Long Survival and Prolonged Remission after Surgery and Chemotherapy in a Metastatic Mismatch Repair Deficient Pancreatic Neuroendocrine Carcinoma with MLH1/PMS2 Immunodeficiency and Minimal Microsatellite Shift.
Journal
Endocrine pathology
Author(s)
Vanoli A., Perfetti V., Furlan D., Neri G., Viglio A., Sessa F., Martino M., Di Sabatino A., Solcia E., La Rosa S.
ISSN
1559-0097 (Electronic)
ISSN-L
1046-3976
Publication state
Published
Issued date
12/2020
Peer-reviewed
Oui
Volume
31
Number
4
Pages
411-417
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
Pancreatic neuroendocrine carcinomas (NECs) are rare and very aggressive neoplasms with dismal prognosis, especially when metastatic or with negative prognostic factors, such as vascular invasion. To the best of our knowledge, no case of pancreatic NEC with mismatch repair deficiency has been reported to date. We describe a 62-year-old patient who underwent pancreaticoduodenectomy for a NEC located in the pancreatic head, with peripancreatic lymph node metastases. Tumor necrosis was prominent and the Ki67 proliferative index was 60%. One year after the diagnosis, the patient experienced recurrence with a left supraclavicular lymph node metastasis, which was surgically removed, followed by standard cisplatin-etoposide chemotherapy. Neoplastic cells showed combined loss of expression of MLH1 and PMS2 in both primary tumor and lymph node metastasis. Microsatellite instability (MSI) test using a mononucleotide repeats pentaplex PCR (BAT-25, BAT-26, NR-21, NR-22, and NR-24) revealed minimal mononucleotide shifts showing deletion of less than 3 bp at NR-21, BAT-26, NR-24, and NR-22 loci. MLH1 methylation analysis revealed absence of the gene promoter methylation. BRAF and KRAS mutations were not detected. In gut, NECs' mismatch repair deficiency phenotype has been reported in about 10% of cases, and it represents an independent factor of more favorable outcome. Likewise, our patient is currently alive with a follow-up of more than 12 years after pancreaticoduodenectomy, by itself an unexpected finding for such an aggressive neoplasm.
Keywords
MLH1, Microsatellite instability, Minimal microsatellite shift, Neuroendocrine carcinoma, Pancreas, Prognosis
Pubmed
Web of science
Create date
13/05/2020 16:07
Last modification date
05/12/2020 7:21
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