Association between clinical outcome and gene mutation in children with Fanconi anemia

CHANG Li-Xian; REN Ruan-Ruan; YANG Wen-Yu; ZHANG Jia-Yuan; WAN Yang; LIU Tian-Feng; ZHANG Li; CHEN Xiao-Juan; ZHU Shuai; RUAN Min; CHEN Xia; LIU Xiao-Ming; QI Ben-Quan; ZHANG Ran-Ran; ZOU Yao; CHEN Yu-Mei; ZHU Xiao-Fan

doi:10.7499/j.issn.1008-8830.2016.08.014

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Chinese Journal of Contemporary Pediatrics ›› 2016, Vol. 18 ›› Issue (8) : 742-745. DOI: 10.7499/j.issn.1008-8830.2016.08.014

CLINICAL RESEARCH

Association between clinical outcome and gene mutation in children with Fanconi anemia

CHANG Li-Xian, REN Ruan-Ruan, YANG Wen-Yu, ZHANG Jia-Yuan, WAN Yang, LIU Tian-Feng, ZHANG Li, CHEN Xiao-Juan, ZHU Shuai, RUAN Min, CHEN Xia, LIU Xiao-Ming, QI Ben-Quan, ZHANG Ran-Ran, ZOU Yao, CHEN Yu-Mei, ZHU Xiao-Fan

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Abstract

Objective To investigate the association between clinical outcome and gene mutations in children with Fanconi anemia (FA). Methods A retrospective analysis was performed for the clinical data of six children with the same severity of FA and receiving the same treatment. At first, single cell gel electrophoresis and chromosome breakage induced by mitomycin C were performed for diagnosis. Then the gene detection kit for congenital bone marrow failure diseases or complementation test was used for genotyping of FA. Finally the association between the clinical outcome at 3, 6, 9, or 12 months after treatment and gene mutation was analyzed. Results Of all the six FA children, five had FANCA type disease, and one had FANCM type disease; four children carried two or more FA gene mutations. Among the children with the same severity of FA, those with more FA mutations had a younger age of onset and poorer response to medication, and tended to progress to a severe type. Conclusions Children carrying more than two FA mutations have a poor clinical outcome, and hematopoietic stem cell transplantation should be performed as soon as possible.

Key words

Fanconi anemia / Clinical outcome / Gene mutation / Child

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CHANG Li-Xian, REN Ruan-Ruan, YANG Wen-Yu, ZHANG Jia-Yuan, WAN Yang, LIU Tian-Feng, ZHANG Li, CHEN Xiao-Juan, ZHU Shuai, RUAN Min, CHEN Xia, LIU Xiao-Ming, QI Ben-Quan, ZHANG Ran-Ran, ZOU Yao, CHEN Yu-Mei, ZHU Xiao-Fan. Association between clinical outcome and gene mutation in children with Fanconi anemia[J]. Chinese Journal of Contemporary Pediatrics. 2016, 18(8): 742-745 https://doi.org/10.7499/j.issn.1008-8830.2016.08.014

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