A patient with multiple primary malignant neoplasms with high variant allele frequencies of RB1, TP53, and TERT.

ABSTRACT: 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 R

SUBMITTER: Ma M 

PROVIDER: S-EPMC10845515 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature