Whole exome sequencing in relapsed or refractory childhood cancer: case series

被引：0
作者：
Thangpong, Rungroj [1 ]
Nuwongsri, Pattarin [2 ]
Ittiwut, Chupong [2 ,3 ]
Ittiwut, Rungnapa [2 ,3 ]
Phokaew, Chureerat [3 ]
Techavichit, Piti [4 ]
Suphapeetiporn, Kanya [2 ,3 ]
机构：
[1] Chulalongkorn Univ, Fac Med, Dept Pediat, Bangkok 10330, Thailand
[2] Thai Red Cross Soc, King Chulalongkorn Mem Hosp, Excellence Ctr Genom & Precis Med, Bangkok, Thailand
[3] Chulalongkorn Univ, Ctr Excellence Med Genom, Med Genom Cluster, Dept Pediat,Fac Med, Bangkok 10330, Thailand
[4] Thammasat Univ, Fac Med, Dept Pediat, Div Hematol & Oncol, Bangkok 10330, Thailand
来源：
ASIAN BIOMEDICINE | 2024年 / 18卷 / 04期
关键词：
exome sequencing; germline mutation; pediatric cancer; sequencing analysis; somatic mutation; JOINT-CONSENSUS-RECOMMENDATION; COLORECTAL-CANCER; GNAS MUTATIONS; P53; MUTATION; ASSOCIATION; GUIDELINES; STANDARDS; VARIANTS; GENETICS; SURVIVAL;
D O I：
10.2478/abm-2024-0025
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
Background: The prognosis for relapsed or refractory childhood cancer is approximately 20%. Genetic alterations are one of the significant contributing factors to the prognosis of patients. Objective: To investigate the molecular profile of relapsed or refractory childhood cancers in Thai cases. Methods: The study design is a descriptive study of patients <18 years old, suspected or diagnosed of relapsed or refractory childhood cancer who underwent whole exome sequencing (WES). Results: WES was successfully performed in both the tumor and the blood or saliva samples obtained from 4 unrelated patients. Six different variants were identified in the NCOR2, COL6A3, TP53, and SMAD4 genes. These alterations were found to be associated with tumor aggressiveness. Conclusion: This study is the first one to demonstrate genetic alterations by using WES in relapsed or refractory childhood cancer in Thai cases.
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收藏
页码：186 / 191
页数：6
相关论文
共 22 条
  • [11] Different mutation profiles associated to P53 accumulation in colorectal cancer
    Lopez, Ignacio
    Oliveira, Ligia P.
    Tucci, Paula
    Alvarez-Valin, Fernando
    Coudry, Renata A.
    Marin, Monica
    [J]. GENE, 2012, 499 (01) : 81 - 87
  • [12] PROGNOSTIC-SIGNIFICANCE OF LOSS OF A CHROMOSOME 17P AND P53 GENE-MUTATIONS IN BLAST CRISIS OF CHRONIC MYELOGENOUS LEUKEMIA
    NAKAI, H
    MISAWA, S
    TANIWAKI, M
    HORIIKE, S
    TAKASHIMA, T
    SERIU, T
    NAKAGAWA, H
    FUJII, H
    SHIMAZAKI, C
    MARUO, N
    AKAOGI, T
    UIKE, N
    ABE, T
    KASHIMA, K
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 1994, 87 (02) : 425 - 427
  • [13] Prognostic factors in metastatic rhabdomyosarcomas: Results of a pooled analysis from United States and European cooperative groups
    Oberlin, Odile
    Rey, Annie
    Lyden, Elizabeth
    Bisogno, Gianni
    Stevens, Michael C. G.
    Meyer, William H.
    Carli, Modesto
    Anderson, James R.
    [J]. JOURNAL OF CLINICAL ONCOLOGY, 2008, 26 (14) : 2384 - 2389
  • [14] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    Richards, Sue
    Aziz, Nazneen
    Bale, Sherri
    Bick, David
    Das, Soma
    Gastier-Foster, Julie
    Grody, Wayne W.
    Hegde, Madhuri
    Lyon, Elaine
    Spector, Elaine
    Voelkerding, Karl
    Rehm, Heidi L.
    [J]. GENETICS IN MEDICINE, 2015, 17 (05) : 405 - 424
  • [15] The TP53 Colorectal Cancer International Collaborative Study on the prognostic and predictive significance of p53 mutation:: Influence of tumor site, type of mutation, and adjuvant treatment
    Russo, A
    Bazan, V
    Iacopetta, B
    Kerr, D
    Soussi, T
    Gebbia, N
    [J]. JOURNAL OF CLINICAL ONCOLOGY, 2005, 23 (30) : 7518 - 7528
  • [16] Regulation and function of the p53 tumor suppressor protein
    Ryan, KM
    Phillips, AC
    Vousden, KH
    [J]. CURRENT OPINION IN CELL BIOLOGY, 2001, 13 (03) : 332 - 337
  • [17] SANDER CA, 1993, BLOOD, V82, P1994
  • [18] Frequency of Somatic TP53 Mutations in Combination with Known Pathogenic Mutations in Colon Adenocarcinoma, Non-Small Cell Lung Carcinoma, and Gliomas as Identified by Next-Generation Sequencing
    Shajani-Yi, Zahra
    de Abreu, Francine B.
    Peterson, Jason D.
    Tsongalis, Gregory J.
    [J]. NEOPLASIA, 2018, 20 (03): : 256 - 262
  • [19] Colorectal cancer: genetics of development and metastasis
    Takayama, T
    Miyanishi, K
    Hayashi, T
    Sato, Y
    Nirrsu, Y
    [J]. JOURNAL OF GASTROENTEROLOGY, 2006, 41 (03) : 185 - 192
  • [20] Frequent activating GNAS mutations in villous adenoma of the colorectum
    Yamada, Masayoshi
    Sekine, Shigeki
    Ogawa, Reiko
    Taniguchi, Hirokazu
    Kushima, Ryoji
    Tsuda, Hitoshi
    Kanai, Yae
    [J]. JOURNAL OF PATHOLOGY, 2012, 228 (01) : 113 - 118
123