1980 年 21 巻 12 号 p. 1944-1950
Two siblings with Fanconi's anemia developing squamous cell carcinomas were reported.
Case 1, a 23-year-old male, was diagnosed as Fanconi's anemia in November, 1975. He was in a small stature with small head, hyperpigmentation, severe pancytopenia and chromosomal abnormalities (chromatid breaks, exchanges, gaps, etc.). He had been treated with methenolone acetate until June, 1979, when carcinoma of the right lower gum was noticed. With irradiation therapy by electron and fast neutron beams, tumor regressed gradually. He was well under follow-up in April, 1980 at present.
Case 2, a 14-year-old female and an elder sister of the patient in case 1, was diagnosed as aplastic anemia in July, 1969. Treated with prednisolone followed by methenolone acetate, she died of gingival and esophageal carcinomas 7 years later.
Consanguinity of their parents was noticed. The occurrence of Fanconi's anemia associated with squamous cell carcinomas in two siblings suggested genetic factor as an etiology of the disorders. The pathogenesis of congenital aplastic anemia and oncogenesis were discussed.