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Hum Pathol. 2018 Jul;77:166-174. doi: 10.1016/j.humpath.2018.03.026. Epub 2018 Apr 7.

Genomic profile of appendiceal goblet cell carcinoid is distinct compared to appendiceal neuroendocrine tumor and conventional adenocarcinoma.

Author information

1
Department of Pathology, University of California, San Francisco, San Francisco, CA 91343, United States.
2
Kaiser Permanente, Woodland Hills, CA 91367, United States.
3
Vista Pathology, Medford, OR 97504, United States.
4
University of California, San Diego, San Diego, CA 92093, United States.
5
Department of Pathology, University of California, San Francisco, San Francisco, CA 91343, United States. Electronic address: sanjay.kakar@ucsf.edu.

Abstract

Goblet cell carcinoid (GCC) is a rare appendiceal tumor with unique morphologic features that shows glandular and neuroendocrine differentiation on immunohistochemistry. An additional component of adenocarcinoma (AC) can be present (GCC-AC). Both GCC and GCC-AC are staged and treated like AC. The histogenesis and genetic alterations underlying GCC and GCC-AC are unclear. Capture-based next-generation DNA sequencing targeting 479 cancer genes was performed on 19 appendiceal tumors: 4 GCC, 9 GCC-AC, 3 neuroendocrine tumors (NET), and 3 AC (2 conventional, 1 mucinous). Somatic coding mutations were not seen in any NET. Pathogenic (P)/likely pathogenic (LP) mutations were present in 1 GCC, 8 GCC-AC and all 3 AC cases. P/LP mutations in chromatin remodeling genes were seen in 4 (44.4%) GCC-AC cases, but not in NET, GCC or AC. In GCC-AC, P/LP mutations in ARID1A and RHOA were each present in 3 cases, and KDM6A and SOX9 mutations were each seen in 2 cases. APC and KRAS mutations were present in 1 conventional AC case, but were not observed in any GCC or GCC-AC. This limited series reveals mutations in SOX9, RHOA, and chromatin-modifier genes in goblet cell tumors, and shows that the mutational profile of GCC/GCC-AC is distinct from NET and conventional appendiceal AC.

KEYWORDS:

Adenocarcinoma; Appendix; Goblet cell carcinoid; Mutation; Next-generation sequencing

PMID:
29634977
DOI:
10.1016/j.humpath.2018.03.026
[Indexed for MEDLINE]

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