Wasil Jastaniah1, Abdullah Aljefri2, Mouhab Ayas2, Musa Alharbi3, Nawaf Alkhayat4, Faisal Al-Anzi5, Fawwaz Yassin6, Fawaz Alkasim7, Qasim Alharbi8, Shaker Abdullah9, Mohammed Burhan Abrar10, Abdulrahman Alsultan11. 1. Department of Pediatrics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Chairman Princess Noorah Oncology Center, King Saud Bin Abdulaziz University and King Abdulaziz Medical City, Jeddah, Saudi Arabia. Electronic address: jastaniahwa@ngha.med.sa. 2. Consultant Pediatric Hematology/Oncology/BMT, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia. 3. Consultant Pediatric Hematology/Oncology/BMT and Chairman of the Cancer Center, King Fahad Medical City, Riyadh, Saudi Arabia. 4. Consultant Pediatric Hematology/Oncology/BMT, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. 5. Chief Executive Officer and Consultant Pediatric Hematology/Oncology/BMT, Prince Faisal Bin Bandar Cancer Center, Qaseem, Saudi Arabia. 6. Consultant Pediatric Hematology/Oncology/BMT, King Faisal Specialist Hospital & Research Center, Jeddah, Saudi Arabia. 7. Consultant Pediatric Hematology/Oncology/BMT, King Saud Medical City, Riyadh, Saudi Arabia. 8. Consultant Pediatric Hematology/Oncology/BMT, King Fahad Specialist Hospital, Dammam, Saudi Arabia. 9. Consultant Pediatric Hematology/Oncology/BMT and Head Section of Pediatric Hematology/Oncology/BMT, Princess Noorah Oncology Center, King Saud Bin Abdulaziz University and King Abdulaziz Medical City, Jeddah, Saudi Arabia. 10. Princess Noorah Oncology Center, King Saud Bin Abdulaziz University and King Abdulaziz Medical City, Jeddah, Saudi Arabia. 11. Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Consultant Pediatric Hematology/Oncology/BMT, Department of Pediatric Hematology/Oncology, King Abdullah Specialist Children's Hospital, Riyadh, Saudi Arabia.
Abstract
BACKGROUND & AIM: Hereditary cancer susceptibility syndromes (HCSS) are reported in up to one-third of children with cancer. Diagnosis of HCSS is crucial for implementation of surveillance protocols. We identified children who fulfilled criteria for HCSS in Saudi Arabia using the American College of Medical Genetics and Genomics (ACMG) guidelines, addressing the utility of these guidelines in a highly consanguineous population. METHODS: This multi-center cross-sectional study recruited 1858 children with cancer between January 2011 and December 2014. HCSS criteria were based on the ACMG guidelines. RESULTS: Seven hundred and four (40.4%) out of 1742 eligible patients fulfilled criteria for HCSS. Consanguinity was reported in 629 (38%) patients, with 50 (2.9%) first-degree, 535 (30.7%) second-degree, and 272 (15.6%) third-degree relatives affected with cancer. Two hundred and eighty eight (17.4%) leukemia and 87 (5.3%) brain tumour patients fulfilled HCSS criteria, with parental consanguinity being the most frequent criterion in both (leukemia 85.4%, brain tumors 83.9%). However, leukemia was less frequent in patients of consanguineous parents (p = 0.023). CONCLUSION: Four out of 10 children with cancer fulfilled criteria for HCSS, most often due to consanguinity. This higher than expected prevalence suggests the need to validate consanguinity as a criterion for HCSS in highly consanguineous populations.
BACKGROUND & AIM: Hereditary cancer susceptibility syndromes (HCSS) are reported in up to one-third of children with cancer. Diagnosis of HCSS is crucial for implementation of surveillance protocols. We identified children who fulfilled criteria for HCSS in Saudi Arabia using the American College of Medical Genetics and Genomics (ACMG) guidelines, addressing the utility of these guidelines in a highly consanguineous population. METHODS: This multi-center cross-sectional study recruited 1858 children with cancer between January 2011 and December 2014. HCSS criteria were based on the ACMG guidelines. RESULTS: Seven hundred and four (40.4%) out of 1742 eligible patients fulfilled criteria for HCSS. Consanguinity was reported in 629 (38%) patients, with 50 (2.9%) first-degree, 535 (30.7%) second-degree, and 272 (15.6%) third-degree relatives affected with cancer. Two hundred and eighty eight (17.4%) leukemia and 87 (5.3%) brain tumourpatients fulfilled HCSS criteria, with parental consanguinity being the most frequent criterion in both (leukemia 85.4%, brain tumors 83.9%). However, leukemia was less frequent in patients of consanguineous parents (p = 0.023). CONCLUSION: Four out of 10 children with cancer fulfilled criteria for HCSS, most often due to consanguinity. This higher than expected prevalence suggests the need to validate consanguinity as a criterion for HCSS in highly consanguineous populations.
Authors: Khalid Khalaf Alharbi; Yazeed A Al-Sheikh; Muslim M Alsaadi; Balavenkatesh Mani; G K Udayaraja; Muhammad Kohailan; Imran Ali Khan Journal: Saudi J Biol Sci Date: 2019-09-09 Impact factor: 4.219
Authors: Raoul C Hennekam; Johannes H M Merks; Floor A M Postema; Saskia M J Hopman; Corianne A J M de Borgie; Cora M Aalfs; Jakob K Anninga; Lieke P V Berger; Fonnet E Bleeker; Charlotte J Dommering; Natasha K A van Eijkelenburg; Peter Hammond; Marry M van den Heuvel-Eibrink; Janna A Hol; Wijnanda A Kors; Tom G W Letteboer; Jan L C M Loeffen; Lisethe Meijer; Maran J W Olderode-Berends; Anja Wagner Journal: Fam Cancer Date: 2021-03-09 Impact factor: 2.375