BACKGROUND: Fanconi anemia (FA) is an autosomal recessive, cancer susceptibility 
disorder characterized by diverse clinical features, such as short stature, 
skeletal or skin abnormalities, progressive bone marrow (BM) failure, and 
increased risk of malignancies. Clonal chromosomal abnormalities are frequently 
reported in FA patients transformed to myelodysplastic syndrome (MDS) and acute 
myeloid leukemia (AML).
AIM: To study the incidence of malignancy and clonal chromosomal abnormalities 
in FA patients.
MATERIALS AND METHODS: Thirty-eight clinically diagnosed FA patients were 
studied at the time of diagnosis and the patients were followed-up for a maximum 
of 28 months at 3-month intervals. The median duration of follow-up of these 
patients was 19.8 months. Chromosomal breakage investigation using mitomycin C 
(MMC)- and diepoxybutane (DEB)-induced peripheral blood cultures were stimulated 
with phytohemagglutinin. Cytogenetic study was done on the BM cells to detect 
clonal chromosomal aberrations.
RESULTS: Eleven (28.95%) out of 38 patients developed malignancies, including 6 
(54.54%) MDS, 4 (36.36%) AML, and 1 (2.63%) squamous cell carcinoma. The clonal 
chromosomal abnormalities were detected in 5 (45.45%) FA patients who developed 
malignancies and the type of chromosomal abnormality detected were monosomies 5, 
7, trisomy 10, dup(1)(q12-q24), and inv(7)(p11pter).
CONCLUSION: The FA patients have a high risk of developing malignancies, and 
clonal chromosomal abnormalities play an important role in the prognosis of the 
disease. Therefore, FA patients need to be followed-up at regular intervals for 
early diagnosis and optimal management of the disease.