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Chromothripsis in acute myeloid leukemia: biological features and impact on survival
MC. Fontana, G. Marconi, JDM. Feenstra, E. Fonzi, C. Papayannidis, A. Ghelli Luserna di Rorá, A. Padella, V. Solli, E. Franchini, E. Ottaviani, A. Ferrari, C. Baldazzi, N. Testoni, I. Iacobucci, S. Soverini, T. Haferlach, V. Guadagnuolo, L....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, práce podpořená grantem
NLK
ProQuest Central
od 2000-01-01 do Před 1 rokem
Open Access Digital Library
od 1997-01-01
Nursing & Allied Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2000-01-01 do Před 1 rokem
Public Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
- MeSH
- akutní myeloidní leukemie diagnóza genetika mortalita terapie MeSH
- chromothripsis * MeSH
- dospělí MeSH
- genetická predispozice k nemoci MeSH
- hybridizace in situ fluorescenční MeSH
- jednonukleotidový polymorfismus MeSH
- kruhové chromozomy MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace MeSH
- nádorové biomarkery MeSH
- prognóza MeSH
- proporcionální rizikové modely MeSH
- protokoly antitumorózní kombinované chemoterapie škodlivé účinky terapeutické užití MeSH
- pruhování chromozomů MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Chromothripsis is a one-step genome-shattering catastrophe resulting from disruption of one or few chromosomes in multiple fragments and consequent random rejoining and repair. This study defines incidence of chromothripsis in 395 newly diagnosed adult acute myeloid leukemia (AML) patients from three institutions, its impact on survival and its genomic background. SNP 6.0 or CytoscanHD Array (Affymetrix®) were performed on all samples. We detected chromothripsis with a custom algorithm in 26/395 patients. Patients harboring chromothripsis had higher age (p = 0.002), ELN high risk (HR) (p < 0.001), lower white blood cell (WBC) count (p = 0.040), TP53 loss, and/or mutations (p < 0.001) while FLT3 (p = 0.025), and NPM1 (p = 0.032) mutations were mutually exclusive with chromothripsis. Chromothripsis-positive patients showed a worse overall survival (OS) (p < 0.001) compared with HR patients (p = 0.011) and a poor prognosis in a COX-HR optimal regression model. Chromothripsis presented the hallmarks of chromosome instability [i.e., TP53 alteration, 5q deletion, higher mean of copy number alteration (CNA), complex karyotype, alterations in DNA repair, and cell cycle] and focal deletions on chromosomes 4, 7, 12, 16, and 17. CBA. FISH showed that chromothripsis is associated with marker, derivative, and ring chromosomes. In conclusion, chromothripsis frequently occurs in AML (6.6%) and influences patient prognosis and disease biology.
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Wien Austria
Division of Hematology and Oncology Medical University of Innsbruck Innsbruck Austria
Institute of Hematology L and A Seràgnoli University of Bologna Bologna Italy
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- $a Fontana, Maria Chiara $u Institute of Hematology "L. and A. Seràgnoli", University of Bologna, Bologna, Italy. mariachiara.fontana4@unibo.it.
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- $a Chromothripsis in acute myeloid leukemia: biological features and impact on survival / $c MC. Fontana, G. Marconi, JDM. Feenstra, E. Fonzi, C. Papayannidis, A. Ghelli Luserna di Rorá, A. Padella, V. Solli, E. Franchini, E. Ottaviani, A. Ferrari, C. Baldazzi, N. Testoni, I. Iacobucci, S. Soverini, T. Haferlach, V. Guadagnuolo, L. Semerad, M. Doubek, M. Steurer, Z. Racil, S. Paolini, M. Manfrini, M. Cavo, G. Simonetti, R. Kralovics, G. Martinelli,
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- $a Chromothripsis is a one-step genome-shattering catastrophe resulting from disruption of one or few chromosomes in multiple fragments and consequent random rejoining and repair. This study defines incidence of chromothripsis in 395 newly diagnosed adult acute myeloid leukemia (AML) patients from three institutions, its impact on survival and its genomic background. SNP 6.0 or CytoscanHD Array (Affymetrix®) were performed on all samples. We detected chromothripsis with a custom algorithm in 26/395 patients. Patients harboring chromothripsis had higher age (p = 0.002), ELN high risk (HR) (p < 0.001), lower white blood cell (WBC) count (p = 0.040), TP53 loss, and/or mutations (p < 0.001) while FLT3 (p = 0.025), and NPM1 (p = 0.032) mutations were mutually exclusive with chromothripsis. Chromothripsis-positive patients showed a worse overall survival (OS) (p < 0.001) compared with HR patients (p = 0.011) and a poor prognosis in a COX-HR optimal regression model. Chromothripsis presented the hallmarks of chromosome instability [i.e., TP53 alteration, 5q deletion, higher mean of copy number alteration (CNA), complex karyotype, alterations in DNA repair, and cell cycle] and focal deletions on chromosomes 4, 7, 12, 16, and 17. CBA. FISH showed that chromothripsis is associated with marker, derivative, and ring chromosomes. In conclusion, chromothripsis frequently occurs in AML (6.6%) and influences patient prognosis and disease biology.
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