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Blood, 15 December 2000, Vol. 96, No. 13, pp. 4064-4070
CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS
Association of complementation group and mutation
type with clinical outcome in Fanconi anemia
Laurence Faivre,
Philippe Guardiola,
Cathryn Lewis,
Inderjeet Dokal,
Wolfram Ebell,
Ariana Zatterale,
Cigdem Altay,
Janet Poole,
David Stones,
Mei Lan Kwee,
Margreet van Weel-Sipman,
Charmaine Havenga,
Neil Morgan,
Johan de Winter,
Martin Digweed,
Anna Savoia,
Jan Pronk,
Thomas de Ravel,
Stander Jansen,
Hans Joenje,
Eliane Gluckman, and
Christopher G. Mathew for the
European Fanconi Anemia Research Group
From the Division of Medical and Molecular Genetics,
GKT School of Medicine, Guy's Hospital, London, UK; Department of
Hematology, Bone Marrow Transplant Unit, Hôpital Saint-Louis,
Paris, France; Department of Hematology, Hammersmith Hospital, London,
UK; Virchow-Klinikum, Berlin, Germany; Ospedale Elena d'Aosta, Naples,
Italy; Hacettepe University, Ankara, Turkey; Baragwanath Hospital,
Bertsham, South Africa; Departments of Human Genetics and Paediatrics,
University of the Orange Free State Medical School, Bloemfontein, South
Africa; Department of Human Genetics, Free University of Amsterdam, The
Netherlands; Department of Pediatrics, Leiden University Medical
Centre, The Netherlands; Genetics Service, IRCCS Ospedale CSS, San
Giovanni Rotondo, Italy; Department of Human Genetics, University of
the Witwatersrand, Johannesburg, South Africa.
Fanconi anemia (FA) is a clinically and genetically heterogeneous
disorder. Clinical care is complicated by variable age at onset and
severity of hematologic symptoms. Recent advances in the molecular
biology of FA have allowed us to investigate the relationship between
FA genotype and the nature and severity of the clinical phenotype. Two
hundred forty-five patients from all 7 known complementation groups
(FA-A to FA-G) were studied. Mutations were detected in one of the
cloned FANC genes in 169 patients; in the remainder the
complementation group was assigned by cell fusion or Western blotting.
A range of qualitative and quantitative clinical parameters was
compared for each complementation group and for different classes of
mutation. Significant phenotypic differences were found. FA-G patients
had more severe cytopenia and a higher incidence of leukemia. Somatic
abnormalities were less prevalent in FA-C, but more common in the rare
groups FA-D, FA-E, and FA-F. In FA-A, patients homozygous for null
mutations had an earlier onset of anemia and a higher incidence of
leukemia than those with mutations producing an altered protein. In
FA-C, there was a later age of onset of aplastic anemia and fewer
somatic abnormalities in patients with the 322delG mutation, but there were more somatic abnormalities in patients with IVS4 + 4A  T. This study indicates that FA patients with mutations in the
FANCG gene and patients homozygous for null mutations in
FANCA are high-risk groups with a poor hematologic outcome
and should be considered as candidates both for frequent monitoring and
early therapeutic intervention.
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