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  • Davidsson, JosefLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine (author)

Relapsed childhood high hyperdiploid acute lymphoblastic leukemia : presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations.

  • Article/chapterEnglish2010

Publisher, publication year, extent ...

  • 2010-03-18
  • Springer Science and Business Media LLC,2010
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:umu-35024
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-35024URI
  • https://doi.org/10.1038/leu.2010.39DOI
  • https://lup.lub.lu.se/record/1581936URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-136562URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:120435748URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Although childhood high hyperdiploid acute lymphoblastic leukemia is associated with a favorable outcome, 20% of patients still relapse. It is important to identify these patients already at diagnosis to ensure proper risk stratification. We have investigated 11 paired diagnostic and relapse samples with single nucleotide polymorphism array and mutation analyses of FLT3, KRAS, NRAS and PTPN11 in order to identify changes associated with relapse and to ascertain the genetic evolution patterns. Structural changes, mainly cryptic hemizygous deletions, were significantly more common at relapse (P<0.05). No single aberration was linked to relapse, but four deletions, involving IKZF1, PAX5, CDKN2A/B or AK3, were recurrent. On the basis of the genetic relationship between the paired samples, three groups were delineated: (1) identical genetic changes at diagnosis and relapse (2 of 11 cases), (2) clonal evolution with all changes at diagnosis being present at relapse (2 of 11) and (3) clonal evolution with some changes conserved, lost or gained (7 of 11), suggesting the presence of a preleukemic clone. This ancestral clone was characterized by numerical changes only, with structural changes and RTK-RAS mutations being secondary to the high hyperdiploid pattern.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Paulsson, KajsaLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kgen-kpa (author)
  • Lindgren, DavidLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kgen-dli (author)
  • Lilljebjörn, HenrikLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)tmb-hli (author)
  • Chaplin, T (author)
  • Forestier, ErikUmeå universitet,Pediatrik(Swepub:umu)erfo0007 (author)
  • Andersen, M K (author)
  • Nordgren, AKarolinska Institutet (author)
  • Rosenquist, RichardUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)richrose (author)
  • Fioretos, ThoasLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kgen-tfi (author)
  • Young, B D (author)
  • Johansson, BertilLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Genetiska och epigenetiska studier av barnleukemi,Forskargrupper vid Lunds universitet,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Genetic and epigenetic studies of pediatric leukemia,Lund University Research Groups(Swepub:lu)kgen-bjo (author)
  • Avdelningen för klinisk genetikInstitutionen för laboratoriemedicin (creator_code:org_t)

Related titles

  • In:Leukemia: Springer Science and Business Media LLC24:5, s. 924-310887-69241476-5551

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