Genome-wide analysis of acute leukemia and clonally related histiocytic sarcoma in a series of three pediatric patients

Matthias Bleeke; Pascal Johann; Susanne Gröbner; Julia Alten; Gunnar Cario; Hansjörg Schäfer; Wolfram Klapper; Joseph Khoury; Stefan Pfister; Ingo Müller

doi:10.1002/pbc.28074

Genome-wide analysis of acute leukemia and clonally related histiocytic sarcoma in a series of three pediatric patients

Matthias Bleeke, Pascal Johann, Susanne Gröbner, Julia Alten, Gunnar Cario, Hansjörg Schäfer, Wolfram Klapper, Joseph Khoury, Stefan Pfister, Ingo Müller

Hematopathology

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

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.

Original language	English (US)
Article number	e28074
Journal	Pediatric Blood and Cancer
Volume	67
Issue number	2
DOIs	https://doi.org/10.1002/pbc.28074
State	Published - Feb 1 2020

Keywords

histiocytic sarcoma
leukemia
pediatric oncology

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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10.1002/pbc.28074

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title = "Genome-wide analysis of acute leukemia and clonally related histiocytic sarcoma in a series of three pediatric patients",

abstract = "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.",

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T1 - Genome-wide analysis of acute leukemia and clonally related histiocytic sarcoma in a series of three pediatric patients

AU - Bleeke, Matthias

AU - Johann, Pascal

AU - Gröbner, Susanne

AU - Alten, Julia

AU - Cario, Gunnar

AU - Schäfer, Hansjörg

AU - Klapper, Wolfram

AU - Khoury, Joseph

AU - Pfister, Stefan

AU - Müller, Ingo

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AB - 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.

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Genome-wide analysis of acute leukemia and clonally related histiocytic sarcoma in a series of three pediatric patients

Abstract

Keywords

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