Institution: Northwestern University
Additional authors:Ryan Gentzler MD, Jessica Altman MD, Yanming Zhang MD, LoAnn Peterson MD
Session: AML with myelodysplasia-related changes
HISTORY
The patient is a 50-year-old woman with a history of thrombocytopenia for 25 years. She presented with circulating blasts on a routine CBC. She had a family history of thrombocytopenia affecting her mother, her siblings and their children, and her own children. Her mother and maternal aunt died from myelodysplastic syndrome.
CBC with differential:WBC 8.7 k/uL; HGB 9.5 g/dL; HCT 30.6%; MCV 80 fL; RDW 23.8%; PLT 55 k/uL. Neutrophils: 55 %; Lymphocytes: 10 %; Monocytes: 7 %; Eosinophils: 2 %; Basophils: 1%; Blast: 25 %; Nucleated red blood cells: 1/100DETAILS
Peripheral blood showed normochromic normocytic anemia, thrombocytopenia, dysplastic neutrophils and 25% blasts.[figure 1]
Bone marrow aspirate smears showed numerous blasts with fine chromatin, round nuclei and scant cytoplasm. [figure 2] The particle clot and core biopsy sections showed markedly hypercelluar marrow with significantly increased blasts. [figure 3, 4]IMMUNOHISTOCHEMISTRY AND FLOW CYTOMETRY
Flow cytometry performed on the bone marrow aspirate revealed a large myeloid blast population.
CYTOGENETIC FINDINGS
Cytogenetic analysis performed on fresh bone marrow aspirate: 46,XX,del(7)(q22q36)[20] [figure 6]
MOLECULAR FINDINGS
GATA mutations in region of 2nd Zinc finger: [figure 5]
Thr358Asn, heterozygote Leu359Val, heterozygoteNo mutation in RUNX1, FLT3 ITD, FLT3 D835 and NPM1.INTERESTING FEATURES
This case is illustrative of a rare heritable GATA2 mutation as a predisposition gene for familial MDS-AML.
PROPOSED DIAGNOSIS
Acute myeloid leukemia, heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
CONSENSUS DIAGNOSIS
Acute myeloid leukemia, with heritable GATA2 mutation-associated familial myelodysplastic syndrome/AML