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Trends Mol Med. 2019 Mar;25(3):167-170. doi: 10.1016/j.molmed.2019.01.003. Epub 2019 Feb 8.

New Insights and Perspectives in Fanconi Anemia Research.

Author information

1
UO Mutagenesi e Prevenzione Oncologica, IRCCS Ospedale Policlinico San Martino, Genova, Italy; These authors equally contributed to the manuscript. Electronic address: paolo.degan@hsanmartino.it.
2
UO Ematologia, IRCCS Istituto Giannina Gaslini, Genova, Italy; These authors equally contributed to the manuscript.
3
UOC Immunologia Clinica e Sperimentale IRCCS Istituto Giannina Gaslini, Genova, Italy.
4
Department of Experimental Medicine, University of Genoa, Via de Toni 14, 16132 Genoa, Italy.

Abstract

Fanconi anemia is a rare, cancer-prone disease with mutations in 22 genes. The primary defect results in altered DNA repair mechanisms that fuel a severe proinflammatory condition in the bone marrow, leading to cellular depletion of the hematopoietic system and eventually to bone marrow failure. During the past three decades, a plethora of dysfunctions have been highlighted in the Fanconi anemia phenotype, but recent research allows us to glimpse an even more complex scenario where defective lipid metabolism could have important consequences in hematopoietic stem cell differentiation.

KEYWORDS:

Fanconi anemia; cancer-prone disease; lipid metabolism; rare disease

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