Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients

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• 作者：Yahya Ghazwani^a ; Mohammed AlBalwi^b ; ^c ; Ibrahim Al-Abdulkareem^c ; Mohammed Al-Dress^c ; Talal Alharbi^a ; Reem Alsudairy^a ; Ali Alomari^a ; Khalid Aljamaan^a ; Mohammed Essa^a ; Mohsen Al-Zahrani^d ; Abdulrahman Alsultan^a ; ^e ; ^{aalsultan1@ksu.edu.sa" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Fanconi anemia ; BRIP1 ; BRCA2 ; PALB2 ; FANCC ; FANCG
• 刊名：Cancer Genetics
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：209
• 期：4
• 页码：171-176
• 全文大小：169 K

文摘

We reviewed our institutional experience from 2011 to 2015 on new cases of Fanconi anemia (FA). Ten unrelated cases were diagnosed during this period. Four patients with severe aplastic anemia (SAA) had c.2392C > T (p.Arg798*) m>BRIP1/FANCJm> mutation. Another child with SAA had novel c.1475T > C (p.Leu492Pro) m>FANCCm> mutation. One individual with SAA and acute myeloid leukemia had c.637_643del (p.Tyr213Lysfs*6) m>FANCGm> mutation. Three patients presented with early onset of cancer, two had m>BRCA2m> mutation c.7007G > A (p.Arg2336His) and one had a novel c.3425del (p.Leu1142Tyrfs*21) m>PALB2m> mutation. Another infant with c.3425del m>PALB2m> mutation had clonal aberration with partial trisomy of the long arm of chromosome 17. Mutations in FA downstream pathway genes are more frequent in our series than expected. Our preliminary observation will be confirmed in a large multi-institutional study.