Premium
Delayed diagnosis and complications of Fanconi anaemia at advanced age – a paradigm
Author(s) -
Huck Kirsten,
Hanenberg Helmut,
Gudowius Sonja,
Fenk Roland,
Kalb Reinhard,
Neveling Kornelia,
Betz Beate,
Niederacher Dieter,
Haas Rainer,
Göbel Ulrich,
Kobbe Guido,
Schindler Detlev
Publication year - 2006
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2006.05998.x
Subject(s) - fanconi anemia , medicine , pediatrics , intensive care medicine , biology , genetics , dna repair , dna
Summary 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.