RGD Reference Report - Comprehensive genomic profiling of small cell lung cancer in Chinese patients and the implications for therapeutic potential. - Rat Genome Database

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Comprehensive genomic profiling of small cell lung cancer in Chinese patients and the implications for therapeutic potential.

Authors: Hu, Jing  Wang, Yu  Zhang, Yuan  Yu, Yanfei  Chen, Hui  Liu, Kuai  Yao, Ming  Wang, Kai  Gu, Weiguang  Shou, Tao 
Citation: Hu J, etal., Cancer Med. 2019 Aug;8(9):4338-4347. doi: 10.1002/cam4.2199. Epub 2019 Jun 14.
RGD ID: 150429733
Pubmed: PMID:31199602   (View Abstract at PubMed)
PMCID: PMC6675718   (View Article at PubMed Central)
DOI: DOI:10.1002/cam4.2199   (Journal Full-text)


BACKGROUND: Small cell lung cancer (SCLC) is one of the deadliest malignancies and accounts for nearly 15% of lung cancers. Previous study had revealed the genomic characterization of SCLC in Western patients. However, little is known about that in Chinese SCLC patients.
METHODS: Formalin-fixed paraffin-embedded tumor tissues and matched blood samples from 122 Chinese SCLC patients were collected for next generation sequencing to detect 450 cancer-related genes. All pathological diagnoses were confirmed by independent pathologists.
RESULTS: The most frequently altered genes were TP53 (93.4%), RB1 (78.7%), LRP1B (18.9%), KMT2D (15.6%), FAT1 (11.5%), KMT2C (11.5%), SPTA1 (11.5%), STK24 (11.5%), FAM135B (10.7%), and NOTCH1 (10.7%). The gene fusion/rearrangement detection rate was 16.4%, and mostly occurred in chromosomes 7 and 17. The rate of co-occurring mutations of TP53 and RB1 in these Chinese SCLC patients was 74.6%, and lower than the reported Western patients (90.9%, P = 0.007). The most common gene mutations (83.6%) were found in cell cycle signaling pathway in Chinese SCLC patients. Mutation of Wnt and Notch signaling pathways in the Chinese cohort were lower than Western cohort (P = 0.0013 and 0.0068). A significant association was found between high tumor mutation burden and mutations involved in FAT1, TP53, SPTA1, KEAP1, KMT2D, MAGI2, NOTCH2, NOTCH3, FLT1, KDM6A, and FAT4.
CONCLUSIONS: In this study, we characterized the genomic alterations profile of Chinese SCLC patients. Compared with westerners, the genetic alterations of Chinese SCLC patients presented different patterns. Our data might provide useful information in targeted therapy and drug development for Chinese SCLC patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
lung small cell carcinoma  IAGP 150429733DNA:mutations:multiple (human)RGD 
lung small cell carcinoma  ISOFAT1 (Homo sapiens)150429733; 150429733DNA:mutations:multiple (human)RGD 
lung small cell carcinoma  IAGP 150429733DNA:mutations:multiple: (human)RGD 
lung small cell carcinoma  ISOKDM6A (Homo sapiens)150429733; 150429733DNA:mutations:multiple: (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Small cell lung carcinoma  IAGP 150429733DNA:mutations:multiple (human)RGD 
Small cell lung carcinoma  IAGP 150429733DNA:mutations:multiple: RGD 
Objects Annotated

Genes (Rattus norvegicus)
Fat1  (FAT atypical cadherin 1)
Kdm6a  (lysine demethylase 6A)

Genes (Mus musculus)
Fat1  (FAT atypical cadherin 1)
Kdm6a  (lysine (K)-specific demethylase 6A)

Genes (Homo sapiens)
FAT1  (FAT atypical cadherin 1)
KDM6A  (lysine demethylase 6A)


Additional Information