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Updated: Feb 19, 2026

Characterizing Mutational Load and Clonal Composition of Human Blood
Published on: July 11, 2019
Chromosomal aberrations associated with clonal evolution and leukemic transformation in fanconi anemia: clinical and
Stefan Meyer1, Heidemarie Neitzel, Holger Tönnies
1c/o Young Oncology Unit, Department of Paediatric and Adolescent Oncology, Christie Hospital, Wilmslow Road, Manchester M20 6XB, UK.
Abstract:
Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, bone marrow failure, and extreme risk of leukemic transformation. Bone marrow surveillance is an important part of the clinical management of FA and often reveals cytogenetic aberrations. Here, we review bone marrow findings in FA and discuss the clinical and biological implications of chromosomal aberrations associated with leukemic transformation.
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