Epidemiological survey of potential familial myelodysplastic syndromes/acute myeloid leukemia in Hawaii.

The epidemiology and clinical characteristics of familial myelodysplastic syndromes/acute myeloid leukemia (MDS/AML) remain poorly understood, particularly among Native Hawaiians and other Pacific Islanders (NHOPI). To investigate the real-world evidence in this area, we conducted a retrospective study at the Queen's Medical Center, Hawaii's largest tertiary referral hospital. This study is based solely on self-reported family histories and interviews, without germline genetic validation. Among 1686 MDS/AML patients who presented between January 2012 and July 2023, 12 (0.71%) had familial MDS/AML and 25 (1.48%) had a family history of unspecified leukemia. While no NHOPI were identified among patients with familial MDS/AML, 20% of patients with a family history of unspecified leukemia were NHOPI. The median age at diagnosis of familial MDS/AML was 70 years, and 50% of familial MDS patients had MDS with low blasts based on the WHO 2022 classification. The median overall survival (OS) time and 5-year OS rate for familial MDS were 12.7 years and 75.0%, respectively. In contrast, familial AML had a median OS time of 0.85 years and a 3-year OS rate of 33.3%. Our study provides new insights into familial MDS/AML in Hawaii's multiethnic population.