A patient with multiple primary malignant neoplasms with high variant allele frequencies of RB1, TP53, and TERT.
Multiple primary malignant neoplasms
Next-generation sequencing
RB1
Small cell carcinoma of urinary bladder
TERT
TP53
Variant allele frequency
Journal
Biomarker research
ISSN: 2050-7771
Titre abrégé: Biomark Res
Pays: England
ID NLM: 101607860
Informations de publication
Date de publication:
06 Feb 2024
06 Feb 2024
Historique:
received:
28
08
2023
accepted:
17
01
2024
medline:
7
2
2024
pubmed:
7
2
2024
entrez:
6
2
2024
Statut:
epublish
Résumé
Multiple primary malignant neoplasms are a rare disease with tumors of different histology or morphology arising in various sites. Next-generation sequencing is essential in the etiology, diagnosis, treatment, and surveillance of this disease. No eight primary malignant neoplasm cases with high variant allele frequencies of RB1, TP53, and TERT have been reported. Herein, we report a 65-year-old male who exhibited eight primary malignancies of the vocal cord, pharynx, kidney, mouth floor, esophagus, and urinary bladder with different pathological types. The first seven tumors were early-stage tumors; the last tumor, small cell carcinoma of urinary bladder, showed liver metastasis at diagnosis. Next-generation sequencing results revealed extremely high somatic variant allele frequencies of RB1 c.1472 T > C, TP53 c.576A > G, and TERT c.-58-u66C > T (95.5%, 95.1%, and 51.0%, respectively). No germline mutations were detected. These findings denoted a heavy tumor burden and poor prognosis. This is the first report of eight primary malignant neoplasm cases with high variant allele frequencies of RB1, TP53, and TERT.
Identifiants
pubmed: 38321554
doi: 10.1186/s40364-024-00567-z
pii: 10.1186/s40364-024-00567-z
doi:
Types de publication
Letter
Langues
eng
Pagination
20Subventions
Organisme : Beijing Municipal Administration of Hospitals Incubating Program
ID : PZ2023001
Organisme : Beijing Municipal Administration of Hospitals Incubating Program
ID : PZ2023001
Organisme : Beijing Municipal Administration of Hospitals Incubating Program
ID : PZ2023001
Informations de copyright
© 2024. The Author(s).
Références
Adamo M, Groves C, Dickie L, Ruhl J. SEER program coding and staging manual 2023. 2023.
Coyte A, Morrison DS, McLoone P. Second primary cancer risk - the impact of applying different definitions of multiple primaries: results from a retrospective population-based cancer registry study. BMC Cancer. 2014;14:272.
doi: 10.1186/1471-2407-14-272
pubmed: 24742063
pmcid: 4005906
Vogt A, Schmid S, Heinimann K, Frick H, Herrmann C, Cerny T, et al. Multiple primary tumours: challenges and approaches, a review. ESMO Open. 2017;2(2):e000172.
doi: 10.1136/esmoopen-2017-000172
pubmed: 28761745
pmcid: 5519797
Hayat MJ, Howlader N, Reichman ME, Edwards BK. Cancer statistics, trends, and multiple primary cancer analyses from the Surveillance, Epidemiology, and End Results (SEER) program. Oncologist. 2007;12(1):20–37.
doi: 10.1634/theoncologist.12-1-20
pubmed: 17227898
Bertolini F, Trudu L, Banchelli F, Schipilliti F, Napolitano M, Alberici MP, et al. Second primary tumors in head and neck cancer patients: the importance of a “tailored” surveillance. Oral Dis. 2021;27(6):1412–20.
doi: 10.1111/odi.13681
pubmed: 33051941
Sung H, Nisotel L, Sedeta E, Islami F, Jemal A. Racial and ethnic disparities in survival among people with second primary cancer in the US. JAMA Netw Open. 2023;6(8):e2327429.
doi: 10.1001/jamanetworkopen.2023.27429
pubmed: 37540510
pmcid: 10403787
Xiong S, Liang H, Liang P, Cai X, Li C, Zhong R, et al. Predilection site and risk factor of second primary cancer: a pan-cancer analysis based on the SEER database. Chin Med J (Engl). 2023;136(12):1500–2.
doi: 10.1097/CM9.0000000000002681
pubmed: 37101356
Zheng X, Zhuge J, Bezerra SM, Faraj SF, Munari E, Fallon JT, et al. High frequency of TERT promoter mutation in small cell carcinoma of bladder, but not in small cell carcinoma of other origins. J Hematol Oncol. 2014;7:47.
doi: 10.1186/s13045-014-0047-7
pubmed: 25042800
pmcid: 4223615
Wang G, Xiao L, Zhang M, Kamat AM, Siefker-Radtke A, Dinney CP, et al. Small cell carcinoma of the urinary bladder: a clinicopathological and immunohistochemical analysis of 81 cases. Hum Pathol. 2018;79:57–65.
doi: 10.1016/j.humpath.2018.05.005
pubmed: 29763719
pmcid: 6133751
Parimi V, Choi W, Feng M, Fong M, Hoffman-Censits J, Kates M, et al. Comparison of clinicopathological characteristics, gene expression profiles, mutational analysis, and clinical outcomes of pure and mixed small-cell carcinoma of the bladder. Histopathology. 2023;82(7):991–1002.
doi: 10.1111/his.14883
pubmed: 36754853
Andersen CL, Asmar F, Klausen T, Hasselbalch H, Grønbæk K. Somatic mutations of the CREBBP and EP300 genes affect response to histone deacetylase inhibition in malignant DLBCL clones. Leuk Res Rep. 2012;2(1):1–3.
pubmed: 24371765
pmcid: 3850379
Chang MT, Penson A, Desai NB, Socci ND, Shen R, Seshan VE, et al. Small-cell carcinomas of the bladder and lung are characterized by a convergent but distinct pathogenesis. Clin Cancer Res. 2018;24(8):1965–73.
doi: 10.1158/1078-0432.CCR-17-2655
pubmed: 29180607