Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants

Germline pathogenic variants in the ATM serine/threonine kinase ( ATM ) gene are associated with an increased risk of pancreatic ductal adenocarcinoma. It is important to identify germline ATM pathogenic variants in pancreatic cancer patients because these alterations are potentially targetable with...

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Veröffentlicht in:Modern pathology 2019-12, Vol.32 (12), p.1806-1813
Hauptverfasser: Hutchings, Danielle, Jiang, Zhengdong, Skaro, Michael, Weiss, Matthew J., Wolfgang, Christopher L., Makary, Martin A., He, Jin, Cameron, John L., Zheng, Lei, Klimstra, David S., Brand, Randall E., Singhi, Aatur D., Goggins, Michael, Klein, Alison P., Roberts, Nicholas J., Hruban, Ralph H.
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Sprache:eng
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Zusammenfassung:Germline pathogenic variants in the ATM serine/threonine kinase ( ATM ) gene are associated with an increased risk of pancreatic ductal adenocarcinoma. It is important to identify germline ATM pathogenic variants in pancreatic cancer patients because these alterations are potentially targetable with chemotherapeutic drugs and/or radiation and have implications for other family members. As germline pathogenic variants in other genes have been associated with distinct histologic subtypes of pancreatic cancer, we studied the histomorphology of pancreatic cancer in 23 patients with germline ATM pathogenic variants. The histologic subtype was ductal adenocarcinoma in 19/23 (83%) of the patients, adenosquamous carcinoma in 1/23 (4%), and colloid (mucinous non-cystic) carcinoma in 3/23 (13%). The percentage of colloid (mucinous non-cystic) carcinomas is higher than we have previously observed in patients with familial and sporadic pancreatic cancer (1 and 2% in prior reports, p  
ISSN:0893-3952
1530-0285
DOI:10.1038/s41379-019-0317-6