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Sökning: id:"swepub:oai:DiVA.org:liu-111275" > Emergence of New AL...

Emergence of New ALK Mutations at Relapse of Neuroblastoma

Schleiermacher, Gudrun (författare)
Institute National Sante and Rech Medical U830, France; Institute Curie, France,Inst Natl Sante & Rech Med U830, Lab Genet & Biol Canc, Paris, France.;Inst Curie, Paris, France.
Javanmardi, Niloufar (författare)
University of Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Sahlgrenska Univ Hosp, Gothenburg, Sweden.
Bernard, Virginie (författare)
Institute Curie, France,Inst Curie, Paris, France.
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Leroy, Quentin (författare)
Institute Curie, France,Inst Curie, Paris, France.
Cappo, Julie (författare)
Institute National Sante and Rech Medical U830, France,Inst Natl Sante & Rech Med U830, Lab Genet & Biol Canc, Paris, France.
Rio Frio, Thomas (författare)
Institute Curie, France,Inst Curie, Paris, France.
Pierron, Gaelle (författare)
Institute Curie, France,Inst Curie, Paris, France.
Lapouble, Eve (författare)
Institute Curie, France,Inst Curie, Paris, France.
Combaret, Valerie (författare)
Centre Leon Berard, France,Ctr Leon Berard, Lab Rech Translationnelle, F-69373 Lyon, France.
Speleman, Frank (författare)
Ghent University Hospital, Belgium,Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium.
de Wilde, Bram (författare)
Ghent University Hospital, Belgium,Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium.
Djos, Anna (författare)
University of Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Sahlgrenska Univ Hosp, Gothenburg, Sweden.
Øra, Ingrid (författare)
Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund University, Sweden
Hedborg, Fredrik (författare)
Uppsala universitet,Molekylär och morfologisk patologi,Uppsala Univ, Gavle, Sweden.;Uppsala Univ, Cty Council Gavleborg, Ctr Res & Dev, Gavle, Sweden.,Uppsala University, Sweden; Uppsala University, Sweden
Traeger, Catarina (författare)
Karolinska Institutet
Holmqvist, Britt-Marie (författare)
Östergötlands Läns Landsting,Linköpings universitet,Avdelningen för kliniska vetenskaper,Hälsouniversitetet,Barn- och ungdomskliniken i Linköping,Linkoping Univ Hosp, S-58185 Linkoping, Sweden.
Abrahamsson, Jonas (författare)
University of Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Sahlgrenska Univ Hosp, Gothenburg, Sweden.
Peuchmaur, Michel (författare)
Hop University of Robert Debre, France; University of Paris 07, France,Hop Univ Robert Debre, AP HP, Paris, France.;Univ Paris 07, Sorbonne Paris Cite, Paris, France.
Michon, Jean (författare)
Institute Curie, France,Inst Curie, Paris, France.
Janoueix-Lerosey, Isabelle (författare)
Institute National Sante and Rech Medical U830, France,Inst Natl Sante & Rech Med U830, Lab Genet & Biol Canc, Paris, France.
Kogner, Per (författare)
Karolinska Institutet
Delattre, Olivier (författare)
Institute National Sante and Rech Medical U830, France,Inst Natl Sante & Rech Med U830, Lab Genet & Biol Canc, Paris, France.
Martinsson, Tommy (författare)
University of Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Sahlgrenska Univ Hosp, Gothenburg, Sweden.
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Institute National Sante and Rech Medical U830, France; Institute Curie, France Inst Natl Sante & Rech Med U830, Lab Genet & Biol Canc, Paris, France;Inst Curie, Paris, France. (creator_code:org_t)
American Society of Clinical Oncology: JCO, 2014
2014
Engelska.
Ingår i: Journal of Clinical Oncology. - : American Society of Clinical Oncology: JCO. - 0732-183X .- 1527-7755. ; 32:25, s. 2727-
Relaterad länk:
http://www.ncbi.nlm....
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http://dx.doi.org/10...
https://urn.kb.se/re...
https://doi.org/10.1...
https://urn.kb.se/re...
https://lup.lub.lu.s...
http://kipublication...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Purpose In neuroblastoma, the ALK receptor tyrosine kinase is activated by point mutations. We investigated the potential role of ALK mutations in neuroblastoma clonal evolution. Methods We analyzed ALK mutations in 54 paired diagnosis-relapse neuroblastoma samples using Sanger sequencing. When an ALK mutation was observed in one paired sample, a minor mutated component in the other sample was searched for by more than 100,000 x deep sequencing of the relevant hotspot, with a sensitivity of 0.17%. Results All nine ALK-mutated cases at diagnosis demonstrated the same mutation at relapse, in one case in only one of several relapse nodules. In five additional cases, the mutation seemed to be relapse specific, four of which were investigated by deep sequencing. In two cases, no mutation evidence was observed at diagnosis. In one case, the mutation was present at a subclonal level (0.798%) at diagnosis, whereas in another case, two different mutations resulting in identical amino acid changes were detected, one only at diagnosis and the other only at relapse. Further evidence of clonal evolution of ALK-mutated cells was provided by establishment of a fully ALK-mutated cell line from a primary sample with an ALK-mutated cell population at subclonal level (6.6%). Conclusion In neuroblastoma, subclonal ALK mutations can be present at diagnosis with subsequent clonal expansion at relapse. Given the potential of ALK-targeted therapy, the significant spatiotemporal variation of ALK mutations is of utmost importance, highlighting the potential of deep sequencing for detection of subclonal mutations with a sensitivity 100-fold that of Sanger sequencing and the importance of serial samplings for therapeutic decisions.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

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