Differential diagnosis:
•Hypoplastic MDS
•Aplastic anemia
– Inherited: Fanconi Anemia (FA), Dyskeratosis Congenita (DC)
– Acquired:
•Drug/toxin
•Infection
•Idiopathic
•Paroxysmal Nocturnal Hemoglobinuria (PNH)
Work-ups:
Conventional cytogentic: 46 xx; FISH for MDS: negative. Together with no overt morphologic dysplasia, MDS can be ruled out.
Chromosome breakage analysis: negative. Fanconi unlikely.
Flow cytometry: negative for PNH.
Flow-FISH for telomere length:
•Hypoplastic MDS
•Aplastic anemia
– Inherited: Fanconi Anemia (FA), Dyskeratosis Congenita (DC)
– Acquired:
•Drug/toxin
•Infection
•Idiopathic
•Paroxysmal Nocturnal Hemoglobinuria (PNH)
Work-ups:
Conventional cytogentic: 46 xx; FISH for MDS: negative. Together with no overt morphologic dysplasia, MDS can be ruled out.
Chromosome breakage analysis: negative. Fanconi unlikely.
Flow cytometry: negative for PNH.
Flow-FISH for telomere length:
Molecular test for DC: TERC mutation positive
Diagnosis: Dyskeratosis Congenita (DC)
Diagnosis: Dyskeratosis Congenita (DC)