Genome-wide analysis of acute leukemia and clonally related histiocytic sarcoma in a series of three pediatric patients.
Child
Cyclin-Dependent Kinase Inhibitor p15
/ genetics
Cyclin-Dependent Kinase Inhibitor p16
/ genetics
DNA Mutational Analysis
/ methods
Frameshift Mutation
Genome, Human
Histiocytic Sarcoma
/ genetics
Humans
Leukemia, Myeloid, Acute
/ genetics
Prognosis
Proto-Oncogene Proteins p21(ras)
/ genetics
Sequence Deletion
Whole Genome Sequencing
histiocytic sarcoma
leukemia
pediatric oncology
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
received:
15
04
2019
revised:
24
09
2019
accepted:
15
10
2019
pubmed:
19
11
2019
medline:
23
4
2020
entrez:
19
11
2019
Statut:
ppublish
Résumé
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.
Substances chimiques
CDKN2A protein, human
0
CDKN2B protein, human
0
Cyclin-Dependent Kinase Inhibitor p15
0
Cyclin-Dependent Kinase Inhibitor p16
0
KRAS protein, human
0
Proto-Oncogene Proteins p21(ras)
EC 3.6.5.2
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e28074Informations de copyright
© 2019 The Authors. Pediatric Blood & Cancer Published byWiley Periodicals, Inc.
Références
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