Abstract
Concurrent perturbations in different driver genes have been reported primarily in lymphoma. In acute myeloid leukemia (AML), cases with concurrent alterations in 2 driver genes are infrequently reported. In contrast to pathogenetic pathways in lymphoma with concurrently perturbed genes, the initial gene alteration in AML arrests maturation and the alteration in the second gene promote self-renewal of the blasts. Here, we report a unique case of infantile leukemia in which chromothripsis in chromosome 8 completely altered the G-band structure and resulted in concurrent changes in MOZ/NCOA2, FGFR1, RUNX1T1, and RUNX1. These multiple-hit abnormalities in AML have not been reported previously.
| Original language | English (US) |
|---|---|
| Journal | Journal of Pediatric Hematology/Oncology |
| DOIs | |
| State | Accepted/In press - Jan 12 2017 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Hematology
- Oncology
Cite this
Cytogenetic and Cytogenomic Microarray Characterization of Chromothripsis in Chromosome 8 Affecting MOZ/NCOA2 (TIF2), FGFR1, RUNX1T1, and RUNX1 in a Pediatric Acute Myeloid Leukemia. / Koduru, Prasad R.; Wilson, Kathleen; Wen, Jiadi; Garcia, Rolando; Patel, Sangeeta; Monaghan, Sara A.
In: Journal of Pediatric Hematology/Oncology, 12.01.2017.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cytogenetic and Cytogenomic Microarray Characterization of Chromothripsis in Chromosome 8 Affecting MOZ/NCOA2 (TIF2), FGFR1, RUNX1T1, and RUNX1 in a Pediatric Acute Myeloid Leukemia
AU - Koduru, Prasad R.
AU - Wilson, Kathleen
AU - Wen, Jiadi
AU - Garcia, Rolando
AU - Patel, Sangeeta
AU - Monaghan, Sara A.
PY - 2017/1/12
Y1 - 2017/1/12
N2 - Concurrent perturbations in different driver genes have been reported primarily in lymphoma. In acute myeloid leukemia (AML), cases with concurrent alterations in 2 driver genes are infrequently reported. In contrast to pathogenetic pathways in lymphoma with concurrently perturbed genes, the initial gene alteration in AML arrests maturation and the alteration in the second gene promote self-renewal of the blasts. Here, we report a unique case of infantile leukemia in which chromothripsis in chromosome 8 completely altered the G-band structure and resulted in concurrent changes in MOZ/NCOA2, FGFR1, RUNX1T1, and RUNX1. These multiple-hit abnormalities in AML have not been reported previously.
AB - Concurrent perturbations in different driver genes have been reported primarily in lymphoma. In acute myeloid leukemia (AML), cases with concurrent alterations in 2 driver genes are infrequently reported. In contrast to pathogenetic pathways in lymphoma with concurrently perturbed genes, the initial gene alteration in AML arrests maturation and the alteration in the second gene promote self-renewal of the blasts. Here, we report a unique case of infantile leukemia in which chromothripsis in chromosome 8 completely altered the G-band structure and resulted in concurrent changes in MOZ/NCOA2, FGFR1, RUNX1T1, and RUNX1. These multiple-hit abnormalities in AML have not been reported previously.
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UR - http://www.scopus.com/inward/citedby.url?scp=85010916998&partnerID=8YFLogxK
U2 - 10.1097/MPH.0000000000000770
DO - 10.1097/MPH.0000000000000770
M3 - Article
C2 - 28085746
AN - SCOPUS:85010916998
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
SN - 1077-4114
ER -