{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:06:17Z","timestamp":1747181177051,"version":"3.40.5"},"reference-count":20,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"24","license":[{"start":{"date-parts":[[2023,6,16]],"date-time":"2023-06-16T00:00:00Z","timestamp":1686873600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,6,16]]},"abstract":"<jats:sec>\n            <jats:title>Rationale:<\/jats:title>\n            <jats:p>Bone marrow failure (BMF) includes inherited and acquired BMFs. Acquired BMF can be secondary to various factors, such as autoimmune dysfunction, benzene, drugs, radiation, viral infection and so on. Fanconi anemia (FA) complementation group L (FANCL) is an E3 ubiquitin ligase that participates in the repair of DNA damage. Homozygous or compound heterozygous mutations of FANCL can lead to the onset of FA, which is one of the most common inherited BMFs.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Patient concerns and Diagnoses:<\/jats:title>\n            <jats:p>Here, we report a case of acquired BMF. This patient had a history of benzene exposure for half a year before the onset of the disease, and presented with progressive pancytopenia, especially the reduction of erythrocytes and megakaryocyte, without malformation. Interestingly, this patient and his brother\/father had a heterozygous (non-homozygous\/compound heterozygous) mutation (Exon9, c.745C &gt; T, p.H249Y) in the FANCL gene.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Interventions and Outcomes:<\/jats:title>\n            <jats:p>The patient successfully underwent unrelated and fully compatible umbilical cord blood hematopoietic stem cell transplantation.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Lessons subsections:<\/jats:title>\n            <jats:p>We report for the first time an acquired BMF case with FANCL gene heterozygous mutation, and the mutation site (Exon9, c.745C &gt; T, p.H249Y) has never been reported. This case suggests that heterozygous mutations in FANCL gene may be associated with increased susceptibility to acquired BMF. Based on current reports and this case, we speculate that heterozygous mutations in the FA complementation gene may exist in a certain proportion of tumor and acquired BMF patients, but have not been detected. We recommend routine screening for FA complementation gene mutations in tumor and acquired BMF patients in clinical practice. If positive results are found, further screening can be conducted on their families.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/md.0000000000034036","type":"journal-article","created":{"date-parts":[[2023,6,16]],"date-time":"2023-06-16T18:03:58Z","timestamp":1686938638000},"page":"e34036","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["An acquired BMF with FANCL gene heterozygous mutation: Case report"],"prefix":"10.1097","volume":"102","author":[{"given":"Nan","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Hematology, People\u2019s Liberation Army The General Hospital of Western Theater Command, Chengdu, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Hematology, People\u2019s Liberation Army The General Hospital of Western Theater Command, Chengdu, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Juan","family":"Miao","sequence":"additional","affiliation":[{"name":"Department of Hematology, People\u2019s Liberation Army The General Hospital of Western Theater Command, Chengdu, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu-Pai","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Hematology, People\u2019s Liberation Army The General Hospital of Western Theater Command, Chengdu, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin-Yu","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Hematology, People\u2019s Liberation Army The General Hospital of Western Theater Command, Chengdu, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Hematology, People\u2019s Liberation Army The General Hospital of Western Theater Command, Chengdu, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2526-0557","authenticated-orcid":false,"given":"Hao-Ping","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Hematology, People\u2019s Liberation Army The General Hospital of Western Theater Command, Chengdu, China."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-20250504","doi-asserted-by":"crossref","first-page":"101275","DOI":"10.1016\/j.beha.2021.101275","article-title":"Distinguishing constitutional from acquired bone marrow failure in the hematology clinic.","volume":"34","author":"Groarke","year":"2021","journal-title":"Best Pract Res Clin Haematol"},{"key":"R2-20250504","doi-asserted-by":"crossref","first-page":"1048746","DOI":"10.3389\/fonc.2022.1048746","article-title":"Acquired and hereditary bone marrow failure: a mitochondrial 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comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.","volume":"42","author":"George","year":"2021","journal-title":"Hum Mutat"},{"key":"R7-20250504","doi-asserted-by":"crossref","first-page":"1528","DOI":"10.3390\/genes11121528","article-title":"Chromosome instability in Fanconi anemia: from breaks to phenotypic consequences.","volume":"11","author":"Garc\u00eda-de-Teresa","year":"2020","journal-title":"Genes"},{"key":"R8-20250504","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1055\/s-2000-9673","article-title":"A heterozygous frameshift mutation in the Fanconi anemia C gene in familial T-ALL and secondary malignancy.","volume":"212","author":"Rischewski","year":"2000","journal-title":"Klin Padiatr"},{"key":"R9-20250504","doi-asserted-by":"crossref","first-page":"1036511","DOI":"10.3389\/fonc.2022.1036511","article-title":"Inherited heterozygous Fanconi anemia gene mutations in a therapy-related CMML patient with a rare NUP98-HOXC11 fusion: a case report.","volume":"12","author":"Shen","year":"2022","journal-title":"Front Oncol"},{"key":"R10-20250504","doi-asserted-by":"crossref","first-page":"2827","DOI":"10.1038\/s41375-022-01729-4","article-title":"Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia.","volume":"36","author":"Kubota","year":"2022","journal-title":"Leukemia"},{"key":"R11-20250504","doi-asserted-by":"crossref","first-page":"BSR20191304","DOI":"10.1042\/BSR20191304","article-title":"Characterization of FANCL variants observed in patient cancer cells.","volume":"40","author":"Frost","year":"2020","journal-title":"Biosci Rep"},{"key":"R12-20250504","doi-asserted-by":"crossref","first-page":"166453","DOI":"10.1016\/j.bbadis.2022.166453","article-title":"FANCL supports Parkin-mediated mitophagy in a ubiquitin ligase-independent 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