Fanconi anemia (FA) is a genetically heterogenous rare autosomal recessive disorder. Mutations in FANCA gene are the most frequent among FA patients accounting for 60-65%. FA is characterised by congenital malformations, progressive bone marrow failure (BMF) and increased risk of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). The risk of developing hematological abnormalities in FA patients is around 98% by 40 years of age. The risk of clonal cytogenetic abnormalities during BMF is around 67% by 30 years of age and risk of developing MDS or AML is 52% by 40 years of age. The frequent chromosomal abnormalities are 1q+, monosomy 7 and gains of 3q. Partial duplications/triplications of chromosome 1q are known to represent a nonrandom chromosomal anomaly in myeloid disorders.

Age and sex 70 years old female patient. Previous history no preleukemia, no previous malignancy, no inborn condition of note. Organomegaly no hepatomegaly, no splenomegaly, no enlarged lymph nodes, no central nervous system involvement Blood WBC: 170 x 10 9 /l HB: 11.6g/dl Platelets: 134 x 10 9 /l Blasts: 95% Bone marrow: Hyper cellular and replaced by blasts (>90%) having increased nucleo-cytoplasmic ratio with 2 to 3 prominent nucleoli and cytoplasmic granules with strong positivity for myeloperoxidase. Cyto-Pathology Classification Phenotype AML M2 Immunophenotype MPO (Strong) Rearranged Ig Tcr Not performed Pathology Increased nucleo-cytoplasmic ratio with 2 to 3 prominent nucleoli and cytoplasmic granules. Diagnosis AML-M2 Survival Date of diagnosis 08-2012 Treatment Hydroxyurea. Complete remission: no Treatment related death: no Status Dead Last follow up 09-2012 Survival 1 month Karyotype Sample Bone marrow aspirate. Culture time Overnight and 24 hours without stimulating agents. Banding GTG Results GTG banding revealed a modal number of 47 with a ring chromosome. Screening of 30 metaphases and analysis of 15 karyotypes confirmed the ring Ring Chromosome 8: a case report

Review on r(8) in hematological malignancies with clinical data, structural dynamics and critical genes involved.