Emma St Martin, Alejandro Ferrer, Abhishek A Mangaonkar, Shakila P Khan, Mira A Kohorst, Avni Y Joshi, William J Hogan, Horatiu Olteanu, Ann M Moyer, Aref Al-Kali, Ayalew Tefferi, Dong Chen, Kitsada Wudhikarn, Ronald Go, David Viswanatha, Rong He, Rhett Ketterling, Phuong L Nguyen, Jennifer L Oliveira, Naseema Gangat, Terra Lasho, Mrinal M Patnaik
Germline predisposition syndromes (GPS) result from constitutional aberrations in tumor suppressive and homeostatic genes, increasing risk for neoplasia in affected kindred. In this study, we present clinical and genomic data on 144 Mayo Clinic patients with GPS; 59 evaluated prospectively using an algorithm-based diagnostic approach in the setting of a dedicated GPS/ inherited bone marrow failure syndrome (IBMFS) clinic. Seventy-two (50%) patients had IBMFS (telomere biology disorders-32,Fanconi anemia-18, Diamond Blackfan Anemia - 11, congenital neutropenia-5, Schwachman-Diamond Syndrome-5 and Bloom Syndrome-1), 27 (19%) had GPS with antecedent thrombocytopenia (RUNX1-FPD-15, ANKRD26-6, ETV6-2, GATA1-1, MPL-3), 28 (19%) had GPS without antecedent thrombocytopenia (GATA2 haploinsufficiency-16, DDX41-10, CBL-1 and CEBPA-1) and 17 (12%) had general cancer predisposition syndromes (ataxia telangiectasia-7, heterozygous ATM variants-3, CHEK2-2, TP53-2, CDK2NA-1, NF1-1 and Nijmegen Breakage Syndrome-1)...
November 1, 2021: American Journal of Hematology