Genome‐wide analysis of acute leukemia and clonally related histiocytic sarcoma in a series of three pediatric patients
| Autor: | Ingo Müller, Wolfram Klapper, Susanne Gröbner, Julia Alten, Pascal Johann, Stefan M. Pfister, Hansjörg Schäfer, Matthias Bleeke, Gunnar Cario, Joseph D. Khoury |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
DNA Mutational Analysis
Histiocytic sarcoma medicine.disease_cause Malignancy Frameshift mutation Proto-Oncogene Proteins p21(ras) 03 medical and health sciences 0302 clinical medicine CDKN2A hemic and lymphatic diseases medicine Humans ddc:610 Child Frameshift Mutation Cyclin-Dependent Kinase Inhibitor p16 Cyclin-Dependent Kinase Inhibitor p15 Sequence Deletion Acute leukemia Whole Genome Sequencing business.industry Genome Human Hematology medicine.disease Prognosis Leukemia Leukemia Myeloid Acute Oncology 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Cancer research KRAS Histiocytic Sarcoma Carcinogenesis business 030215 immunology |
| Popis: | Pediatric histiocytic sarcoma (HS) clonally related to anteceding leukemia is a rare malignancy with poor outcome. We performed a molecular characterization of HS and the corresponding leukemia by methylation arrays and whole-exome sequencing and found a variety of aberrations in both entities with deletions of CDKN2A/B as a recurrent finding. Furthermore, data from genome-wide mutation analysis from one patient allowed the reconstruction of a sequence of tumorigenesis of leukemia and HS lesions including the acquisition of a putatively activating KRAS frameshift deletion (p.A66fs). Our results provide an insight into the genetic landscape of pediatric HS clonally related to anteceding leukemia. |
| Databáze: | OpenAIRE |
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