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Mutational landscape of goblet cell carcinoids and adenocarcinoma ex goblet cell carcinoids of the appendix is distinct from typical carcinoids and colorectal adenocarcinomas
- Source :
- Modern Pathology. 31:989-996
- Publication Year :
- 2018
- Publisher :
- Elsevier BV, 2018.
-
Abstract
- There is limited data on the spectrum of molecular alterations in goblet cell carcinoids and adenocarcinoma ex goblet cell carcinoids of the appendix. We used next generation sequencing to determine mutations of potential pathogenetic and therapeutic significance in this rare group of tumors. Adequate DNA was successfully extracted in 34/46 cases and the final group included 18 goblet cell carcinoids and 16 adenocarcinoma ex goblet cell carcinoids. Illumina TruSeq™ was used for sequencing exons of a custom 282 gene panel using an Illumina HiSeq 2000. All cases had a minimum coverage depth of at least 50 reads. After filtering through the Exome Sequencing Project, the number of mutations per case ranged from 0–9 (mean:3). The mutational burden in adenocarcinoma ex goblet cell carcinoids was significantly higher than goblet cell carcinoids (mean 5 vs. 3; p
- Subjects :
- Adult
Male
0301 basic medicine
Pathology
medicine.medical_specialty
ARID1A
Carcinoid Tumor
Adenocarcinoma
Biology
medicine.disease_cause
Pathology and Forensic Medicine
CDH1
03 medical and health sciences
0302 clinical medicine
medicine
Humans
neoplasms
Exome sequencing
Goblet cell carcinoid
Aged
Goblet cell
Middle Aged
medicine.disease
digestive system diseases
Gene Expression Regulation, Neoplastic
030104 developmental biology
medicine.anatomical_structure
Appendiceal Neoplasms
030220 oncology & carcinogenesis
Mutation
biology.protein
Female
CDKN1B
KRAS
Colorectal Neoplasms
Subjects
Details
- ISSN :
- 08933952
- Volume :
- 31
- Database :
- OpenAIRE
- Journal :
- Modern Pathology
- Accession number :
- edsair.doi.dedup.....7af6beacb38c8a3a9704d75a37c1f976