title: Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.
abstract: 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*) BRIP1/FANCJ mutation. Another child with SAA had novel c.1475T > C (p.Leu492Pro) FANCC mutation. One individual with SAA and acute myeloid leukemia had c.637_643del (p.Tyr213Lysfs*6) FANCG mutation. Three patients presented with early onset of cancer, two had BRCA2 mutation c.7007G > A (p.Arg2336His) and one had a novel c.3425del (p.Leu1142Tyrfs*21) PALB2 mutation. Another infant with c.3425del PALB2 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.
authors.affiliation: Department of Pediatric Hematology/Oncology, King Abdullah Specialist Children's Hospital, Riyadh, Saudi Arabia.
authors.forename: Yahya
authors.initials: Y
authors.lastname: Ghazwani
authors.affiliation: Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, National Guard Health Affairs, Riyadh, Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: AlBalwi
authors.affiliation: King Abdullah International Medical Research Center, National Guard Health Affairs, Riyadh, Saudi Arabia.
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Al-Abdulkareem
authors.affiliation: King Abdullah International Medical Research Center, National Guard Health Affairs, Riyadh, Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Dress
authors.affiliation: Department of Pediatric Hematology/Oncology, King Abdullah Specialist Children's Hospital, Riyadh, Saudi Arabia.
authors.forename: Talal
authors.initials: T
authors.lastname: Alharbi
authors.affiliation: Department of Pediatric Hematology/Oncology, King Abdullah Specialist Children's Hospital, Riyadh, Saudi Arabia.
authors.forename: Reem
authors.initials: R
authors.lastname: Alsudairy
authors.affiliation: Department of Pediatric Hematology/Oncology, King Abdullah Specialist Children's Hospital, Riyadh, Saudi Arabia.
authors.forename: Ali
authors.initials: A
authors.lastname: Alomari
authors.affiliation: Department of Pediatric Hematology/Oncology, King Abdullah Specialist Children's Hospital, Riyadh, Saudi Arabia.
authors.forename: Khalid
authors.initials: K
authors.lastname: Aljamaan
authors.affiliation: Department of Pediatric Hematology/Oncology, King Abdullah Specialist Children's Hospital, Riyadh, Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Essa
authors.affiliation: Department of Oncology, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia.
authors.forename: Mohsen
authors.initials: M
authors.lastname: Al-Zahrani
authors.affiliation: Department of Pediatric Hematology/Oncology, King Abdullah Specialist Children's Hospital, Riyadh, Saudi Arabia; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Electronic address: aalsultan1@ksu.edu.sa.
authors.forename: Abdulrahman
authors.initials: A
authors.lastname: Alsultan
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D012529:Saudi Arabia; D055815:Young Adult
keywords: BRCA2; BRIP1; FANCC; FANCG; Fanconi anemia; PALB2