<scp>NUP</scp>98–<scp>HOXA</scp>9 bearing therapy‐related myeloid neoplasm involves myeloid‐committed cell and induces <scp>HOXA</scp>5,<scp>EVI</scp>1, <scp>FLT</scp>3, and <scp>MEIS</scp>1 expression

Burillo‐Sanz, Sergio; Morales‐Camacho, Rosario M.; Caballero‐Velázquez, Teresa; Vargas, María Teresa; García-Lozano, José R.; Falantes, José; Prats‐Martín, Concepción; Bernal, Ricardo; Pérez-Simón, Josè Antonio

doi:10.1111/ijlh.12435

Cited by 10 publications

(7 citation statements)

References 32 publications

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“…3b & Supplementary Fig. 10b), a previously reported association with high MECOM expression [40][41][42] . WGS on 3 of the 4 remaining MECOM high cases revealed structural variations (SV) involving the MECOM locus on chromosome 3 ( Fig.…”

Section: Resultssupporting

confidence: 51%

The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms

Schwartz

Kamens

et al. 2021

Nat Commun

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Pediatric therapy-related myeloid neoplasms (tMN) occur in children after exposure to cytotoxic therapy and have a dismal prognosis. The somatic and germline genomic alterations that drive these myeloid neoplasms in children and how they arise have yet to be comprehensively described. We use whole exome, whole genome, and/or RNA sequencing to characterize the genomic profile of 84 pediatric tMN cases (tMDS: n = 28, tAML: n = 56). Our data show that Ras/MAPK pathway mutations, alterations in RUNX1 or TP53, and KMT2A rearrangements are frequent somatic drivers, and we identify cases with aberrant MECOM expression secondary to enhancer hijacking. Unlike adults with tMN, we find no evidence of pre-existing minor tMN clones (including those with TP53 mutations), but rather the majority of cases are unrelated clones arising as a consequence of cytotoxic therapy. These studies also uncover rare cases of lineage switch disease rather than true secondary neoplasms.

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Section: Resultssupporting

confidence: 51%

The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms

Schwartz

Kamens

et al. 2021

Nat Commun

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“…However, no statistically significant differences were observed between these two groups, which may be due to the small patient number. FLT3-ITD also co-existed with other genetic abnormalities, including FRGs including CEBPA and AML1-ETO , and DRGs including N-RAS, NMT3A, EVI1, DupMLL and HOX11 (24,25). In the present study, 76 patients with AML with genetic abnormalities were analyzed and the survival of patients with an FLT3-ITD mutation combined with good prognosis genes were compared with those with an FLT3-ITD mutation combined with poor prognosis genes.…”

Section: Discussionmentioning

confidence: 99%

Prognosis and outcome of patients with acute myeloid leukemia based on FLT3‑ITD mutation with or without additional abnormal cytogenetics

et al. 2019

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The FMS-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD) gene mutation is present in ~20% of patients with de novo acute myeloid leukemia (AML). Patients with an FLT3-ITD mutation have a poor prognosis. However, the prognostic function of FLT3-ITD combined with other cytogenetic abnormalities are not clear. In the present study, a retrospective analysis of 103 newly diagnosed patients with AML was performed. The results revealed that the overall survival (OS) and recurrence-free survival (RFS) times were significantly longer in patients with an FLT3-ITD mutation combined with other favorable risk genes, compared with in those patients with a single FLT3-ITD mutation (P=0.0361 and P=0.0426). Sorafenib combined with chemotherapy significantly improved the overall response rate (ORR) when compared with mono-chemotherapy (P=0.039), but no significant differences were observed in the OS and RFS. In conclusion, favorable-risk cytogenetics may improve the clinical outcomes of patients with FLT3-ITD-mutated AML, but adverse-risk cytogenetics may not further worsen the prognosis. Sorafenib combined with chemotherapy may increase the ORR but would not result in a longer OS and RFS.

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“…RUNX1 primer sequences were the following: RUNX1‐4 F: GACAGCCCCAACTTCC and RUNX1‐56R: CCACTTCGACCGACAA, hybridizing in exon 4 and exon 5, respectively. The other gene expression primers used can be found elsewhere . Relative quantification to a pool of three healthy donor's cDNA was performed by 2 ‐ΔΔCt method, using ABL1 as reference gene.…”

Section: Resultsmentioning

confidence: 99%

RUNX1 amplification in AML with myelodysplasia‐related changes and ring 21 chromosomes

Burillo‐Sanz

Vargas

Morales‐Camacho

et al. 2016

Hematological Oncology

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Ring 21 is an unstable structural abnormality of chromosome 21 that can lead to RUNX1 gene amplification. We present a unique case with a carrier patient of a constitutional ring chromosome 21 (partial monosomy and trisomy 21) with dysmorphic features and congenital malformations phenotype, who developed acute myeloid leukaemia with myelodysplasia-related changes and two ring 21 chromosomes with RUNX1 amplification. The patient's constitutional ring 21 chromosome showed alterations in tumour suppressor genes, and oncogenes, but not in RUNX1. RUNX1 gene expression at acute myeloid leukaemia diagnosis, showed no upregulation, so other genes may also be the genetic amplification targets in this patient. Copyright © 2016 John Wiley & Sons, Ltd.

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NUP98–HOXA9 bearing therapy‐related myeloid neoplasm involves myeloid‐committed cell and induces HOXA5,EVI1, FLT3, and MEIS1 expression

Abstract: In this work, we include a detailed molecular, clinical, cytological, and cytometric study of the second t-AML bearing NUP98-HOXA9 genetic fusion.

Cited by 10 publications

References 32 publications

The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms

The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms

Prognosis and outcome of patients with acute myeloid leukemia based on FLT3‑ITD mutation with or without additional abnormal cytogenetics

RUNX1 amplification in AML with myelodysplasia‐related changes and ring 21 chromosomes

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