Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen

Trine Aaquist, Maja Dembic, Mads Thomassen, Karin de Stricker, Mette Bertelsen, Lene Gaarsmand Christensen, Michael Bau Mortensen, Sönke Detlefsen

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Abstrakt

We report a case of a pancreatic ductal adenocarcinoma (PDAC) presenting synchronously with a paraganglioma (PGL) in a Whipple reaction specimen. The patient was a 72-year-old female with a history of breast and vulvar cancer. The simultaneous occurrence of two synchronous tumours in the pancreas was striking. Due to the presence of PGL and multiple meta- and synchronous tumours, the patient was referred to genetic counselling. Tumour tissue from the vulvar carcinoma, the PDAC and the PGL was analysed by targeted next-generation sequencing (NGS) of 161 cancer-related genes and by whole exome sequencing (WES). Peripheral blood was also examined by NGS and WES. These genetic analyses revealed germline polymorphisms in AXIN2 (NM_004655.4:c 0.2272 G>A; p.Ala758Thr), BRCA2 (NM_000059.3:c.9976 A>T; p.Lys3326Ter), NCOR1 (NM_006311.4:c 0.6544 G>A; p.Ala2182Thr) and SPTA1 (NM_003126.3:c 0.373 G>A; p.Ala125Thr) and somatic mutations of KRAS (NM_033360.3;c 0.35 G>A; p.Gly12Asp) and TP53 (NM_000546.5; c.602delT; p.Leu201CysfsTer46) in the PDAC and of TP53 (NM_000546.5; c 0.733 G>A; p.Gly245Ser) and TERT (NM_198253.2; c.-124 C>T; promotor region) in the vulvar carcinoma. Breast carcinoma tissue was not available for genetic analysis. The results of the genetic analyses did not explain the presence of multiple tumours in this patient, despite a slightly increased risk of breast cancer associated with the identified BRCA2 polymorphism. To our knowledge, this is the first report of the synchronous occurrence of PDAC and PGL. This case emphasizes the importance of thorough macroscopic examination of pancreatic resection specimens, as coexisting neoplasms may otherwise be missed.

OriginalsprogEngelsk
TidsskriftPathology, Research and Practice
Vol/bind226
Sider (fra-til)153590
ISSN0344-0338
DOI
StatusE-pub ahead of print - 17. aug. 2021

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Copyright © 2021 The Authors. Published by Elsevier GmbH.. All rights reserved.

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