Postmortem genetic diagnosis of hereditary leiomyomatosis and renal cell carcinoma syndrome: Identification through normal kidney tissues after surgical removal

TL;DR

A man with aggressive kidney cancer was diagnosed posthumously with a hereditary cancer syndrome using genetic testing on surgical tissue, enabling genetic counseling for his family.

Contribution

Demonstrates the feasibility of postmortem genetic diagnosis of hereditary leiomyomatosis and renal cell cancer using normal kidney tissue from surgical specimens.

Findings

FH gene mutation was confirmed postmortem in normal kidney tissue from a surgical specimen.

Postmortem genetic testing enabled a diagnosis of hereditary leiomyomatosis and renal cell cancer after it was not possible during the patient's lifetime.

This approach allows for genetic counseling for family members despite limitations during the patient's life.

Abstract

Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant disorder caused by germline mutations in the FH gene and is associated with poor prognosis of aggressive renal cancer.

A 33‐year‐old man presented with asymptomatic gross hematuria and was diagnosed with a right renal tumor, cT3aN1M0. He underwent open radical nephrectomy, and pathological examination revealed papillary renal cell carcinoma. Despite aggressive treatment, the disease progressed rapidly, and discussions regarding genetic testing could not take place during his lifetime, although circulating‐tumor DNA showed mutation of FH gene. After death, his wife requested postmortem genetic testing. Genetic analysis using DNA extracted from normal kidney tissues in surgical specimens (blood sample absence) confirmed the FH mutation, and hereditary leiomyomatosis and renal cell cancer was diagnosed posthumously.

This highlights the utility of postmortem genetic testing of surgical specimens to diagnose hereditary leiomyomatosis and renal cell cancer and provide genetic counseling to families, despite limitations during the patient's life.

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