VanDerGraaf Madeline, Younger Georgianne, Dillahunt Kyle, Smith Jennifer, Puski Athena, Blum Nicole, Manwiller Hailey, Nagy Jaime, Sutamtewagul Grerk, Poonsombudlert Kittika, Tung Moon Ley
Holden Comprehensive Cancer Center, University of Iowa Healthcare, Iowa City, Iowa, USA.
Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA.
Cancer Med. 2025 Sep;14(18):e71240. doi: 10.1002/cam4.71240.
Hereditary hematological malignancy syndromes (HHMS) are more common than previously thought, and identification of an HHMS syndrome can inform the choice of treatments, transplant, and testing of other family members. Genetic testing guidelines for hematological malignancy have broadened; however, there remain a multitude of barriers and complexities with germline genetic testing for these patients. Here, we describe a process for the evaluation and testing of patients for HHMS as well as our respective findings.
Adult patients with a new diagnosis or history of myeloid malignancy and referred for genetic counseling from 2020 to 2023 within a single institution were reviewed. Descriptive statistics were performed, and frequency data was gathered for relevant patients.
A total of forty-nine patients were evaluated by a genetic counselor based on their myeloid malignancy; forty-three patients underwent genetic testing. Genetic testing revealed an HHMS for six patients, with two additional patients found to have abnormalities on ancillary testing that could not be genetically characterized. Thirty-five patients met NCCN age-based criteria for genetic testing; however, this was not mutually exclusive with those diagnosed with HHMS. Inpatient genetic counseling had a median timeline of 53 days from referral to result (range: 32-56.75 days). Outpatient genetic counseling had a median timeline of 96 days from referral to result (range: 64-144 days).
Our proposed process demonstrates an efficient structure for patients with hematological malignancy while supporting the importance of the genetic counselor within the malignant hematology and stem cell transplant teams.
遗传性血液系统恶性肿瘤综合征（HHMS）比之前认为的更为常见，识别HHMS综合征可为治疗方案的选择、移植以及其他家庭成员的检测提供依据。血液系统恶性肿瘤的基因检测指南已经放宽；然而，对这些患者进行种系基因检测仍存在诸多障碍和复杂性。在此，我们描述了对患者进行HHMS评估和检测的过程以及我们各自的发现。
回顾了2020年至2023年在单一机构内新诊断或有髓系恶性肿瘤病史并被转诊进行遗传咨询的成年患者。进行了描述性统计，并收集了相关患者的频率数据。
共有49名患者因髓系恶性肿瘤接受了遗传咨询师的评估；43名患者接受了基因检测。基因检测发现6名患者患有HHMS，另有2名患者在辅助检测中发现有异常但无法进行基因特征分析。35名患者符合基于年龄的NCCN基因检测标准；然而，这与诊断为HHMS的患者并不相互排斥。住院遗传咨询从转诊到出结果的中位时间为53天（范围：32 - 56.75天）。门诊遗传咨询从转诊到出结果的中位时间为96天（范围：64 - 144天）。
我们提出的流程为血液系统恶性肿瘤患者展示了一种有效的结构，同时支持了遗传咨询师在恶性血液学和干细胞移植团队中的重要性。
