Fanconi Anemia with MDS RAEB-2 Rapidly Progressing to AML in a 5-Year-Old Boy

Abstract

Fanconi's Anemia is primarily an autosomal recessive genetic disorder characterized by congenital abnormalities, defective haematopoiesis leading to bone marrow failure and increased risk of development of Myelodysplastic syndrome, acute myeloid leukemia and solid tumours. Chromosomal instability can be demonstrated by breakage caused by alkylating agents and forms the basis of diagnosis. Our patient presented with structural deformities associated with features of bone marrow failure in form of pancytopenia. Bone marrow analysis and flow cytometry done on aspirate was suggestive of MDS. He subsequently progressed to frank acute myeloid leukemia and succumbed to the illness. The case is being reported for its rarity especially, Fanconi's Anemia associated with monosomal karyotype (one monosomy plus one more structural abnormality).

Keywords: AML; Chromosomal anomalies; Chromosomal breakage syndrome; Fanconi’s anemia.

Fig. 1

a–c Photograph of the child showing epicanthal fold, simple partial syndactyly of both feet (fusion of second and third toes) and Café au lait spot on the right shoulder

Fig. 2

a Cellular bone marrow aspirate smears showing myeloblasts with erythroid precursors and a unilobate megakaryocyte (BMA Leishman Giemsa stain × 100×). b Hypercellular bone marrow aspirate showing moderate to large sized blasts with high N: C ratio, greyish blue cytoplasm, cleaved nucleus and prominent nucleoli (BMA Leishman Giemsa stain × 100×). (Color figure online)

Fig. 3

a Metaphase spread from Fanconi Anemia patient exhibiting multiple chromosomal breaks and radial forms (some indicated by arrow). b G-band metaphase chromosome analysis revealed abnormalities in chromosome 7 and 21 [Karyotype -47, XY, +21, −7]