Cancer Research and Treatment

Original Articles

Gastrointestinal cancer

Presence of RB1 or Absence of LRP1B Mutation Predicts Poor Overall Survival in Patients with Gastric Neuroendocrine Carcinoma and Mixed Adenoneuroendocrine Carcinoma: In Hye Song, Bokyung Ahn, Young Soo Park, Deok Hoon Kim, Seung-Mo Hong; Cancer Res Treat. 2025;57(2):492-506. Published online September 27, 2024; DOI: https://doi.org/10.4143/crt.2024.667

Abstract PDF Supplementary Material PubReader ePub: Purpose
Neuroendocrine carcinomas (NECs) of the stomach are extremely rare, but fatal. However, our understanding of the genetic alterations in gastric NECs is limited. We aimed to evaluate genomic and clinicopathological characteristics of gastric NECs and mixed adenoneuroendocrine carcinomas (MANECs).
Materials and Methods
Fourteen gastric NECs, three gastric MANECs, and 1,381 gastric adenocarcinomas were retrieved from the departmental next-generation sequencing database between 2017 and 2022. Clinicopathological parameters and next-generation sequencing test results were retrospectively collected and reviewed.
Results
Gastric NECs and MANECs frequently harbored alterations of TP53, RB1, SMARCA4, RICTOR, APC, TOP1, SLX4, EGFR, BRCA2, and TERT. In contrast, gastric adenocarcinomas exhibited alterations of TP53, CDH1, LRP1B, ARID1A, ERBB2, GNAS, CCNE1, NOTCH, and MYC. Mutations of AKT3, RB1, and SLX4; amplification of BRCA2 and RICTOR; and deletion of ADAMTS18, DDX11, KLRC3, KRAS, MAX, NFKBIA, NUDT7, and RB1 were significantly more frequent in gastric NECs and MANECs than in gastric adenocarcinomas. The presence of LRP1B mutation was significantly associated with longer overall survival (OS), whereas RB1 mutation and advanced TNM stage were associated with shorter OS.
Conclusion
We identified frequently mutated genes and potential predictors of survival in patients with gastric NECs and MANECs.

1,571 View
108 Download

Germline Mutation of Rb1 Gene in Korean Retinoblastoma Patients: Ja Lok Ku, Young Suk Yu, Jae Gahb Park; J Korean Cancer Assoc. 1997;29(2):291-298.

Abstract PDF: PURPOSE
Retinoblastoma is an intraocular tumor occurring almost exclusively in young children. Germline mutations in the Rb1 gene confer hereditary predisposition to retinoblastoma. To identify germline mutations in the Rb1 gene in Korean retinoblastoma patients, we analyzed germline mutations of the Rb1 gene in 4 Korean retinoblastoma patients from 3 families.
MATERIALS AND METHODS
All patients were bilaterally affected in early childhood. First patient and second patient were same family members (SNU-RB1-1 and -2), and in the third patient (SNU-RB2), tumor cells had metastasized to the central nervous system 2 years after treatment of retinoblastoma. Fourth patient (SNU-RB3) developed secondary osteosarcoma in the nasal cavity 15 years after treatment of retinoblastoma. We have used PCR-SSCP analysis and DNA sequencing analysis to screen germline mutations.
RESULTS
We found one missense mutation in the fourth patient (SNU-RB3). This was a point mutation from AAA (lysine) to GAA (glutamine) at codon 616 in exon 19 of the Rb1 gene.
CONCLUSION
We confirmed one germline mutation of the Rb1 gene in one Korean patient who had a sporadic bilateral retinoblastoma and osteosarcoma. Identification of the germline mutation in Rb1 gene would help to improve the presymptomatic diagnosis and clinical management of retinoblastoma patients.

2,541 View
18 Download

First
Prev
Page of 1
Next
Last

Search