{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T20:17:13Z","timestamp":1782505033144,"version":"3.54.5"},"reference-count":260,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T00:00:00Z","timestamp":1704326400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Cancer Research and Development expenses","award":["2021-A-11"],"award-info":[{"award-number":["2021-A-11"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Due to the proliferation of genetic testing, pathogenic germline variants predisposing to hereditary hematological malignancy syndrome (HHMS) have been identified in an increasing number of genes. Consequently, the field of HHMS is gaining recognition among clinicians and scientists worldwide. Patients with germline genetic abnormalities often have poor outcomes and are candidates for allogeneic hematopoietic stem cell transplantation (HSCT). However, HSCT using blood from a related donor should be carefully considered because of the risk that the patient may inherit a pathogenic variant. At present, we now face the challenge of incorporating these advances into clinical practice for patients with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) and optimizing the management and surveillance of patients and asymptomatic carriers, with the limitation that evidence-based guidelines are often inadequate. The 2016 revision of the WHO classification added a new section on myeloid malignant neoplasms, including MDS and AML with germline predisposition. The main syndromes can be classified into three groups. Those without pre-existing disease or organ dysfunction; DDX41, TP53, CEBPA, those with pre-existing platelet disorders; ANKRD26, ETV6, RUNX1, and those with other organ dysfunctions; SAMD9\/SAMD9L, GATA2, and inherited bone marrow failure syndromes. In this review, we will outline the role of the genes involved in HHMS in order to clarify our understanding of HHMS.<\/jats:p>","DOI":"10.3390\/ijms25010652","type":"journal-article","created":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T05:23:30Z","timestamp":1704345810000},"page":"652","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome"],"prefix":"10.3390","volume":"25","author":[{"given":"Hironori","family":"Arai","sequence":"first","affiliation":[{"name":"Department of Hematology, National Cancer Center Hospital East, Kashiwa 277-8577, Japan"},{"name":"Department of Hematology and Oncology, Japanese Red Cross Narita Hospital, Iidacho, Narita 286-0041, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6266-3227","authenticated-orcid":false,"given":"Hirotaka","family":"Matsui","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, National Cancer Center Hospital, Tsukiji, Chuoku 104-0045, Japan"},{"name":"Department of Medical Oncology and Translational Research, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-8665, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5725-7187","authenticated-orcid":false,"given":"SungGi","family":"Chi","sequence":"additional","affiliation":[{"name":"Department of Hematology, National Cancer Center Hospital East, Kashiwa 277-8577, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshikazu","family":"Utsu","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology, Japanese Red Cross Narita Hospital, Iidacho, Narita 286-0041, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Masuda","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology, Japanese Red Cross Narita Hospital, Iidacho, Narita 286-0041, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuyuki","family":"Aotsuka","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology, Japanese Red Cross Narita Hospital, Iidacho, Narita 286-0041, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0863-0739","authenticated-orcid":false,"given":"Yosuke","family":"Minami","sequence":"additional","affiliation":[{"name":"Department of Hematology, National Cancer Center Hospital East, Kashiwa 277-8577, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2276","DOI":"10.1038\/leu.2014.211","article-title":"Pre-leukemic evolution of hematopoietic stem cells: The importance of early mutations in leukemogenesis","volume":"28","author":"Majeti","year":"2014","journal-title":"Leukemia"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1097\/MOH.0000000000000633","article-title":"Germline mutations in MDS\/AML predisposition disorders","volume":"28","author":"Godley","year":"2021","journal-title":"Curr. 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