A case of acute promyelocytic leukemia complicated by mitochondrial disease

TL;DR

A teenager with mitochondrial disease successfully treated for leukemia may benefit from reduced chemotherapy doses due to increased drug sensitivity.

Contribution

The study suggests reduced-dose chemotherapy could be effective for leukemia patients with mitochondrial diseases due to increased drug sensitivity.

Findings

A 15-year-old with mitochondrial disease achieved and maintained molecular remission from leukemia with reduced-dose chemotherapy.

Peripheral mononuclear cells from remission patients showed higher sensitivity to anticancer drugs than healthy volunteers.

Elevated oxidative stress in mitochondrial disease patients may enhance drug sensitivity, supporting reduced-dose chemotherapy.

Abstract

A 15-year-old boy with congenital mitochondrial disease was diagnosed with acute promyelocytic leukemia. He was treated with all-trans retinoic acid, and his anthracycline dose was reduced in response to his underlying condition. He successfully achieved molecular remission and maintained this state for 4 years. In vitro drug sensitivity testing in peripheral mononuclear cells suggests that samples from patients in remission show higher sensitivity to various anticancer drugs than samples from healthy volunteers. Reduced-dose chemotherapy could be a valid treatment option for patients with mitochondrial diseases because exposure to elevated oxidative stress may contribute to increased drug sensitivity in these patients.

The online version contains supplementary material available at 10.1007/s12185-025-03992-4.