Differentiation of Fanconi anemia from 'idiopathic' aplastic anemia by induced chromosomal breakage study using mitomycin-C (MMC)

• Published in: Indian pediatrics Vol. 41; no. 5; pp. 473 - 477
• Main Authors: TALWAR, Rashmi, CHOUDHRY, V. P, KUCHERIA, Kiran
• Format: Journal Article
• Language: English
• Published: New Delhi Indian Pediatrics 01.05.2004
• Subjects: Adolescent; Adult; Anemia, Aplastic - diagnosis; Anemia, Aplastic - genetics; Biological and medical sciences; Child; Child, Preschool; Chromosome Breakage; Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...); Diagnosis, Differential; Fanconi Anemia - diagnosis; Fanconi Anemia - genetics; Female; Hematologic and hematopoietic diseases; Humans; Infant; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical genetics; Medical sciences; Mitomycin; Nucleic Acid Synthesis Inhibitors; Asia; India; Human; Antineoplastic agent; Chromosome fragility; Pediatrics; Mitomycin; Fanconi anemia; Aplastic anemia; Idiopathic; Chromosome; Hemopathy; Differential diagnostic; Genetic disease; Antibiotic; Tropical medicine; Anomaly; Child
• ISSN: 0019-6061; 0974-7559

This study was conducted to differentiate between Fanconi anemia (FA) and "idiopathic" aplastic anemia on the basis of induced chromosomal breakage study with mitomycin C (MMC). MMC-stress test was conducted on peripheral blood lymphocytes from 29 patients with aplastic anemia. Ten patients with very high percentage of chromosomal breakage and four patients exhibiting somatic mosaicism were diagnosed as FA on the basis of chromosomal breakage study. Six of these patients exhibited congenital anomalies at presentation while another eight lacked such anomalies or had minor physical problems. The present study illustrates that MMC stress test provides an unequivocal means of differentiation between Fanconi anemia and 'idiopathic' aplastic anemia. Further, the study, first of its kind from India, stresses on the need for conducting this test in all aplastic anemia cases, even those without congenital anomalies, for accurate and timely diagnosis of Fanconi anemia to implement appropriate therapy.