title: Delayed diagnosis and complications of Fanconi anaemia at advanced age--a paradigm.
abstract: 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.
authors.affiliation: Department of Paediatric Oncology, Haematology and Immunology, Children's Hospital UKD, Heinrich Heine University, Moorenstrasse 5, 40225 Duesseldorf, Germany.
authors.forename: Kirsten
authors.initials: K
authors.lastname: Huck
authors.forename: Helmut
authors.initials: H
authors.lastname: Hanenberg
authors.forename: Sonja
authors.initials: S
authors.lastname: Gudowius
authors.forename: Roland
authors.initials: R
authors.lastname: Fenk
authors.forename: Reinhard
authors.initials: R
authors.lastname: Kalb
authors.forename: Kornelia
authors.initials: K
authors.lastname: Neveling
authors.forename: Beate
authors.initials: B
authors.lastname: Betz
authors.forename: Dieter
authors.initials: D
authors.lastname: Niederacher
authors.forename: Rainer
authors.initials: R
authors.lastname: Haas
authors.forename: Ulrich
authors.initials: U
authors.lastname: Göbel
authors.forename: Guido
authors.initials: G
authors.lastname: Kobbe
authors.forename: Detlev
authors.initials: D
authors.lastname: Schindler
mesh_terms: 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
chemical_list: C498471:FANCA protein, human; D052217:Fanconi Anemia Complementation Group A Protein