Delayed diagnosis and complications of Fanconi anaemia at advanced age--a paradigm.
Fanconi anaemia (FA) is a rare recessive DNA repair disorder clinically characterised by congenital malformations, progressive bone marrow failure and a high propensity for developing malignancies at an early age, predominantly acute myeloid leukaemia (AML) and squamous cell carcinoma. It is conceivable that a number of patients with hypomorphic mutations are not diagnosed as FA until severe complications in the treatment of a malignancy occur. Here, we report on a patient with FA-A, diagnosed only at the age of 49 years due to persistent pancytopenia and myelodysplastic syndrome/AML induced by a first cycle of chemotherapy for bilateral metachronic breast cancer. This exceptional case clearly demonstrates that, in instances of long-lasting mild pancytopenia or development of malignancies, especially at an unusually young age, FA should be ruled out, irrespective of the patient's age and features, especially before inflicting severe genotoxic stress.
Huck
Kirsten
K
Department of Paediatric Oncology, Haematology and Immunology, Children's Hospital UKD, Heinrich Heine University, Moorenstrasse 5, 40225 Duesseldorf, Germany.
Hanenberg
Helmut
H
Gudowius
Sonja
S
Fenk
Roland
R
Kalb
Reinhard
R
Neveling
Kornelia
K
Betz
Beate
B
Niederacher
Dieter
D
Haas
Rainer
R
Göbel
Ulrich
U
Kobbe
Guido
G
Schindler
Detlev
D
D000328:Adult; D000367:Age Factors; D000595:Amino Acid Sequence; D001943:Breast Neoplasms / Q000209:etiology; D005199:Fanconi Anemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D052217:Fanconi Anemia Complementation Group A Protein / Q000235:genetics; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009190:Myelodysplastic Syndromes / Q000209:etiology; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics; D010198:Pancytopenia / Q000209:etiology
C498471:FANCA protein, human; D052217:Fanconi Anemia Complementation Group A Protein