期刊
ONCOGENE
卷 41, 期 26, 页码 3455-3460出版社
SPRINGERNATURE
DOI: 10.1038/s41388-022-02350-6
关键词
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资金
- National Cancer Institute [P30CA014089]
- Gloria Borges WunderGlo Foundation
- Dhont Family Foundation
- Gene Gregg Pancreas Research Fund
- San Pedro Peninsula Cancer Guild
- Daniel Butler Research Fund
- Victoria and Philip Wilson Research Fund
- Fong research project
- Ming Hsieh research fund
Signet ring cell carcinoma (SRCC) is a rare subtype of gastric and colorectal cancer, associated with poor prognosis and unknown molecular characteristics. Analysis revealed that SRCCs harbor a similar molecular profile regardless of tumor location, potentially leading to tailored therapy for these patients.
Signet ring cell carcinoma (SRCC) is rare: about 10% of gastric cancer (GC) and 1% of colorectal cancer (CRC). SRCC is associated with poor prognosis, however the underlying molecular characteristics are unknown. SRCCs were analyzed using NGS, immunohistochemistry, and in situ hybridization. Tumor mutational burden (TMB) was calculated based on somatic nonsynonymous missense mutations, and microsatellite instability (MSI) was evaluated by NGS of known MSI loci. A total of 8500 CRC and 1100 GC were screened. Seventy-six SRCC were identified from the CRC cohort (<1%) and 98 from the GC cohort (9%). The most frequently mutated genes in CRC-SRCC were TP53 (47%), ARID1A (26%), APC (25%); in GC-SRCC were TP53 (42%), ARID1A (27%), CDH1 (11%). When compared to non-SRCC histology (N = 3522), CRC-SRCC (N = 37) more frequently had mutations in BRCA1 (11% vs 1%, P < 0.001) and less frequently mutations in APC (19% vs 78%, P < 0.001), KRAS (22% vs 51%, P = 0.001) and TP53 (47% vs 73%, P = 0.001). Among the GC cohort, SRCC (N = 54) had a higher frequency of mutations in CDH1, BAP1, and ERBB2, compared to non-SRCC (N = 540). Our data suggest that SRCCs harbor a similar molecular profile, regardless of the tumor location. Tailored therapy may become available for these patients.
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