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<p>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&#xa0;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&#xa0;years and 75.0%, respectively. In contrast, familial AML had a median OS time of 0.85&#xa0;years and a 3-year OS rate of 33.3%. Our study provides new insights into familial MDS/AML in Hawaii’s multiethnic population.</p>

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

  • 期刊论文

  • 发表日期：

    2025年12月12日

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  • Kensuke Takaoka,
  • Manasawee Tanariyakul,
  • Akihiro Miyashita,
  • Yoshito Nishimura,
  • Dominic Chow,
  • Kenneth Sumida

摘要

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.