Abstract
Chromosome instability and an increased sensitivity to DNA cross-linking alkylating agents appears to be present in patients with Fanconi anemia (FA). A 5½ year old white female with short stature and microcephaly developed acute myelomonocytic leukemia (AMML). Chromosome analysis of the bone marrow showed a karyotypically abnormal clone with rearrangements consistent with AMML, as well as an increased rate of spontaneous chromosome breakage. The diagnosis of FA was confirmed by finding 8.07 (normal 0-0.10) chromosome breaks per cell in lymphocytes cultured with the difunctional alkylating agent diepoxybutane. A complete bone marrow remission was induced with 1 course of cytosine arabinoside 100mg/M2/day IV X 7 by continuous infusion and adriamycin 30mg/M2/day IV X 3. Severe pancytopenia presumably secondary to heightened chromosomal instability of the normal regenerating bone marrow elements necessitated significant drug reduction of all subsequent anti-leukemia treatment. Despite minimal chemotherapy the patient remains in a complete remission. This patient's course illustrates three points: first, the clinical spectrum of FA is quite varied; second, AMML may be the first hematologic event in FA without prior therapy with either androgens or corticosteroids; third, treatment requires significant chemotherapy dosage modification.
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Weiner, M., Yeboa, K., Warburton, D. et al. 888 ACUTE MYELOMONOCYTIC LEUKEMIA AS THE FIRST HEMATOLOGIC MANIFESTATION IN A PATIENT WITH FANCONI ANEMIA. Pediatr Res 15 (Suppl 4), 590 (1981). https://doi.org/10.1203/00006450-198104001-00913
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DOI: https://doi.org/10.1203/00006450-198104001-00913