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Background   RAD51D  (RAD51 paralog D) is an intermediate cancer susceptibility gene for primary ovarian cancer, including fallopian tube and peritoneal carcinomas and breast cancer. Although gynecological non-epithelial tumors such as uterine sarcomas are associated with genomic instability, including  BRCA  impairment, there is no clear evidence of the relationship between  RAD51D  variants and the risk of sarcoma development.    Case presentation  A Japanese woman in her 50s underwent multiple surgical resections and several regimens of chemotherapy for tumors that originated in the retroperitoneum and recurred in the peritoneum over a clinical course of approximately 4 years. The peritoneal tumor was histologically diagnosed as a leiomyosarcoma and was genetically identified to show a splice variant of  RAD51D  c.904-2A > T [NM_002878] through tumor profiling performed as a part of cancer precision medicine. The confirmatory genetic test performed after genetic counseling revealed that the  RAD51D  splicing variant detected in her tumor was of germline origin. In silico analyses supported the possible pathogenicity of the detected splice variant of  RAD51D  with a predicted attenuation in mRNA transcription and truncated protein production due to frameshifting, which was attributed to a single-nucleotide alteration in the splicing acceptor site at the 3′-end of intron 9 of  RAD51D . Considering her unfavorable clinical outcome, which showed a highly aggressive phenotype of leiomyosarcoma with altered  RAD51D , this case provided novel evidence for the relationship of a  RAD51D  splicing variant with malignant tumor development or progression. We report the findings of this rare case with possible involvement of the germline variant of  RAD51D  c.904-2A > T as a potential predisposing factor for malignant tumors, including leiomyosarcoma.    Conclusions  We present the findings of a case of leiomyosarcoma in the peritoneum of a female patient with a novel germline splicing variant of  RAD51D  as potential evidence for the pathogenicity of the variant and its involvement in the risk of sarcoma etiology and/or development. To the best of our knowledge, this is the first case report describing a leiomyosarcoma carrying a germline  RAD51D  splicing variant and elucidating its pathogenicity on the basis of computational prediction of the impairment of normal transcription and the presumed loss of functional protein production.    Supplementary Information  The online version contains supplementary material available at 10.1186/s13053-021-00205-x.

Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report