Simple mucinous cysts of the pancreas have heterogeneous somatic mutations Journal Article

   


Authors: Attiyeh, M.; Zhang, L.; Iacobuzio-Donahue, C.; Allen, P.; Imam, R.; Basturk, O.; Klimstra, D. S.; Sigel, C. S.
Article Title: Simple mucinous cysts of the pancreas have heterogeneous somatic mutations
Abstract: Simple mucinous cysts of the pancreas have an epithelial lining resembling pancreatic intraepithelial neoplasia but may have a clinical presentation similar to premalignant mucinous neoplasms such as intraductal papillary mucinous neoplasms. Whether the epithelial lining shares genomic alterations with other pancreatic preinvasive neoplasms such as PanIN and intraductal papillary mucinous neoplasm has not been determined. We performed targeted sequencing analysis using a custom-designed MiSeq panel including the full coding regions of 18 pancreatic cancer genes on 13 clinically and pathologically well-characterized simple mucinous cysts. We detected 59 mutations in 15 genes in the cohort, with a median of 4 mutations per cyst (range = 0–16 mutations per cyst). The mutated genes and rate of detected mutations were as follows: KMT2C (MLL3) (62%), KRAS (15%), BRAF (8%), RNF43 (8%), CDKN2a (8%), TP53 (15%), and SMAD4 (8%). No GNAS mutations were detected. Four cases (31%) had no mutations detected. These findings place the majority of simple mucinous cysts of the pancreas in the spectrum of early, low-grade mucinous neoplasia, albeit with a different spectrum of genomic alterations compared with PanIN and intraductal papillary mucinous neoplasm. © 2020 Elsevier Inc.
Keywords: adult; human tissue; aged; middle aged; unclassified drug; somatic mutation; clinical feature; histopathology; follow up; pancreas; pancreas cyst; protein; protein p53; cyclin dependent kinase inhibitor 2a; k ras protein; tumor gene; genetic code; b raf kinase; genetic heterogeneity; molecular; intraductal papillary mucinous neoplasm; mucinous cystic neoplasm; pancreatic cyst; smad4 protein; pancreatic intraepithelial neoplasia; rnf43 protein; human; male; female; article; kmt2c protein; retention cyst; simple mucinous cyst
Journal Title: Human Pathology
Volume: 101
ISSN: 0046-8177
Publisher: Elsevier Inc.  
Date Published: 2020-07-01
Start Page: 1
End Page: 9
Language: English
DOI: 10.1016/j.humpath.2020.04.006
PUBMED: 32380013
PROVIDER: scopus
PMCID: PMC7321854
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85085364558&doi=10.1016%2fj.humpath.2020.04.006&partnerID=40&md5=9d3e1014c52e1b9c97a6a1541d90b2b5
Notes: Article -- Export Date: 1 July 2020 -- Source: Scopus
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MSK Authors
  1. Olca Basturk
    352 Basturk
  2. David S Klimstra
    978 Klimstra
  3. Peter Allen
    501 Allen
  4. Carlie Selbo Sigel
    115 Sigel
  5. Christine Anne Iacobuzio-Donahue
    200 Iacobuzio-Donahue
  6. Marc Attiyeh
    30 Attiyeh
  7. Liguo Zhang
    9 Zhang
  8. Rami Imam
    5 Imam
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