{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:36:06Z","timestamp":1778200566091,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T00:00:00Z","timestamp":1692144000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Four to 10% of cases of myeloid malignancies are inherited. We report our experience on hereditary myeloid malignancy syndromes (HMMS) incorporating a novel questionnaire in the screening platform for patients with myeloid malignancies and aplastic anemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The questionnaire was sent via electronic patient portal prior to clinic visits. Patients screened positive based on responses to questionnaire items, presence of suspicion disease characteristics (young age, family history, monosomy 7 etc.) and\/or presence of signs of HMMS. Those deemed at\u2010risk based on questionnaire responses, clinical features and\/or somatic mutation profile were offered germline testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 408 patients were screened, 141 (35%) were deemed at\u2010risk. Fifty\u2010four (38%) of at\u2010risk patients were seen in the genetics clinic. Forty\u2010one (76%) of the patients seen agreed to germline testing and 13 declined due to cost or personal decision. Twenty pathogenic (P)\/likely\u2010pathogenic (LP) germline mutations were identified in 16 (39%) of the tested patients. Five patients also had a variant of uncertain significance (VUS) and an additional 13 had at least 1 VUS without P\/LP mutations (total 29 VUS's were found in 18 (44%) of tested patients). The median age of diagnosis for patients with P\/LP mutations was 56\u2009years versus 66\u2009years in the entire cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Incorporating an electronic questionnaire is an effective screening method for HMMS. Many patients declined testing due to cost. These results highlight the importance of germline testing in patients with myeloid malignancies, further research in HMMS, and coverage by healthcare plans.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ejh.14084","type":"journal-article","created":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T21:52:39Z","timestamp":1692568359000},"page":"844-850","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identifying patients at risk for hereditary myeloid malignancy syndromes incorporating a novel, self\u2010administered questionnaire to an initial screening platform"],"prefix":"10.1111","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7681-3348","authenticated-orcid":false,"given":"Mohammad Faizan","family":"Zahid","sequence":"first","affiliation":[{"name":"Harold C. Simmons Comprehensive Cancer Center University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Department of Internal Medicine, Division of Hematology and Medical Oncology, Leukemia Program UT Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4350-7931","authenticated-orcid":false,"given":"Kelsey","family":"Moriarty","sequence":"additional","affiliation":[{"name":"Harold C. Simmons Comprehensive Cancer Center University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7615-868X","authenticated-orcid":false,"given":"Courtney","family":"Dryden","sequence":"additional","affiliation":[{"name":"Harold C. 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