{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:44:26Z","timestamp":1740149066108,"version":"3.37.3"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,7,3]],"date-time":"2021-07-03T00:00:00Z","timestamp":1625270400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,7,3]],"date-time":"2021-07-03T00:00:00Z","timestamp":1625270400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>T-cell acute lymphoblastic leukemia is a subtype of acute lymphoblastic leukemia, one of the most common childhood neoplasms. Hypodiploidy is a chromosome abnormality with fewer than 45 chromosomes and is associated with unsatisfactory clinical outcomes in acute lymphoblastic leukemia.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report clinical and genetic findings of a 14-year-old male with T-cell acute lymphoblastic leukemia with low-hypodiploidy. The medical history included neck pain for a month, facial nerve palsy on the right side for 6\u00a0days, fever, drowsiness, and weakness for 3\u00a0days, vomiting, diarrhea for 1\u00a0day. The physical examination presented features of hypovolemia, palsy of the facial nerve on the right side, enlarged lymph nodes, hepatosplenomegaly, sore throat, and petechiae of the skin. Radiological images indicated lesions of different organs. Bone marrow biopsy confirmed precursor T-ALL. In the FISH tests, <jats:italic>KMT2A<\/jats:italic> and <jats:italic>BCR\/ABL1<\/jats:italic> rearrangements were not observed. GTG banding revealed 3 cell clones, which confirmed the hypodiploidy. Multiplex RT-qPCR was performed. <jats:italic>STIL\/TAL1<\/jats:italic> (del1p32) gene rearrangement was found in the blast cells. Additional tests were performed using the CytoScan HD microarray technique. Molecular karyotype did not reveal hypodiploidy, but identified other abnormalities such as duplication of chromosomal regions: 4q25q35.2, 6p23.3p11.1 and 8p23.3q24.21, and the loss of heterozygosity of short arm chromosome 9. In two regions of the chromosome biallelic deletions were found at 9p21.3, including the <jats:italic>CDKN2A<\/jats:italic>, <jats:italic>CDKN2B, IFNA1, MTAP<\/jats:italic> genes and at 10q23.31, containing <jats:italic>PTEN.<\/jats:italic> The child died 9\u00a0days after diagnosis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Bone marrow biopsy, GTG banding, FISH techniques, and molecular karyotyping were used to make an accurate diagnosis. This case documents a rapid progression of the disease and unfavorable results of T-cell acute lymphoblastic leukemia with hypodiploidy.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01023-9","type":"journal-article","created":{"date-parts":[[2021,7,3]],"date-time":"2021-07-03T13:02:29Z","timestamp":1625317349000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Hypodiploidy in a pediatric patient of T-cell acute lymphoblastic leukemia: a case report"],"prefix":"10.1186","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8036-8379","authenticated-orcid":false,"given":"Martyna","family":"Stefaniak","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"R\u0119ka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Zawitkowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Lejman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,7,3]]},"reference":[{"issue":"1","key":"1023_CR1","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/j.blre.2017.08.006","volume":"32","author":"E Vadillo","year":"2018","unstructured":"Vadillo E, Dorantes-Acosta E, Pelayo R, et al. T cell acute lymphoblastic leukemia (T-ALL): new insights into the cellular origins and infiltration mechanisms common and unique among hematologic malignancies. Blood Rev. 2018;32(1):36\u201351.","journal-title":"Blood Rev"},{"issue":"4","key":"1023_CR2","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1182\/blood-2016-10-743765","volume":"129","author":"S Safavi","year":"2017","unstructured":"Safavi S, Paulsson K. Near-haploid and low-hypodiploid acute lymphoblastic leukemia: two distinct subtypes with consistently poor prognosis. Blood. 2017;129(4):420\u20133.","journal-title":"Blood"},{"key":"1023_CR3","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/j.critrevonc.2018.04.002","volume":"126","author":"C Wu","year":"2018","unstructured":"Wu C, Li W. Genomics and pharmacogenomics of pediatric acute lymphoblastic leukemia. Crit Rev Oncol Hematol. 2018;126:100\u201311.","journal-title":"Crit Rev Oncol Hematol"},{"issue":"10","key":"1023_CR4","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1200\/JCO.18.00822","volume":"37","author":"CH Pui","year":"2019","unstructured":"Pui CH, Rebora P, Schrappe M, et al. Outcome of children with hypodiploid acute lymphoblastic leukemia: a retrospective multinational study. J Clin Oncol. 2019;37(10):770\u20139.","journal-title":"J Clin Oncol"},{"issue":"40","key":"1023_CR5","doi-asserted-by":"publisher","first-page":"42793","DOI":"10.18632\/oncotarget.6000","volume":"6","author":"S Safavi","year":"2015","unstructured":"Safavi S, Olsson L, Biloglav A, et al. Genetic and epigenetic characterization of hypodiploid acute lymphoblastic leukemia. Oncotarget. 2015;6(40):42793\u2013802.","journal-title":"Oncotarget"},{"issue":"4","key":"1023_CR6","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1016\/j.jmoldx.2016.03.004","volume":"18","author":"Y Wang","year":"2016","unstructured":"Wang Y, Miller S, Roulston D, et al. Genome-wide single-nucleotide polymorphism array analysis improves prognostication of acute lymphoblastic leukemia\/lymphoma. J Mol Diagn. 2016;18(4):595\u2013603.","journal-title":"J Mol Diagn"},{"issue":"3","key":"1023_CR7","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1038\/ng.2532","volume":"45","author":"L Holmfeldt","year":"2013","unstructured":"Holmfeldt L, Wei L, Diaz-Flores E, et al. The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet. 2013;45(3):242\u201352.","journal-title":"Nat Genet"},{"issue":"3","key":"1023_CR8","doi-asserted-by":"publisher","first-page":"a026286","DOI":"10.1101\/cshperspect.a026286","volume":"7","author":"EQ Comeaux","year":"2017","unstructured":"Comeaux EQ, Mullighan CG. TP53 Mutations in hypodiploid acute lymphoblastic leukemia. Cold Spring Harb Perspect Med. 2017;7(3):a026286.","journal-title":"Cold Spring Harb Perspect Med"},{"issue":"1","key":"1023_CR9","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1182\/asheducation-2016.1.580","volume":"2016","author":"EA Raetz","year":"2016","unstructured":"Raetz EA, Teachey DT. T-cell acute lymphoblastic leukemia. Hematol Am Soc Hematol Educ Program. 2016;2016(1):580\u20138.","journal-title":"Hematol Am Soc Hematol Educ Program"},{"key":"1023_CR10","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.cancergen.2019.07.009","volume":"238","author":"AJ Carroll","year":"2019","unstructured":"Carroll AJ, Shago M, Mikhail FM, et al. Masked hypodiploidy: hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: a report from the Children\u2019s Oncology Group. Cancer Genet. 2019;238:62\u20138.","journal-title":"Cancer Genet"},{"issue":"10","key":"1023_CR11","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1200\/JCO.19.00143","volume":"37","author":"MJ Burke","year":"2019","unstructured":"Burke MJ. Allogeneic hematopoietic cell transplantation provides no benefit for patients with hypodiploid acute lymphoblastic leukemia. J Clin Oncol. 2019;37(10):763\u20134.","journal-title":"J Clin Oncol"},{"issue":"3","key":"1023_CR12","doi-asserted-by":"publisher","first-page":"101193","DOI":"10.1016\/j.beha.2020.101193","volume":"33","author":"S Kimura","year":"2020","unstructured":"Kimura S, Mullighan CG. Molecular markers in ALL: clinical implications. Best Pract Res Clin Haematol. 2020;33(3):101193.","journal-title":"Best Pract Res Clin Haematol"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-021-01023-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12920-021-01023-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-021-01023-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,3]],"date-time":"2021-07-03T13:07:12Z","timestamp":1625317632000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-021-01023-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,3]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["1023"],"URL":"https:\/\/doi.org\/10.1186\/s12920-021-01023-9","relation":{},"ISSN":["1755-8794"],"issn-type":[{"type":"electronic","value":"1755-8794"}],"subject":[],"published":{"date-parts":[[2021,7,3]]},"assertion":[{"value":"18 March 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 June 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 July 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the ethics committee of Medical University of Lublin, Poland (committee\u2019s reference number: KNW\/0022\/KB1\/153\/I\/16\/17). Written, informed consent to participate was obtained from the patient\u2019s parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written, informed consent to publish was obtained from the patient\u2019s parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"178"}}