High-throughput sequencing identifies an NFIA/CBFA2T3 fusion gene in acute erythroid leukemia with t(1;16)(p31;q24)

Micci, Francesca; Thorsen, Jim; Panagopoulos, Ioannis; Nyquist, Kaja Beate; Zeller, Bernward; Tierens, Anne; Heim, Sverre

doi:10.1038/leu.2012.266

Cited by 40 publications

(47 citation statements)

References 11 publications

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“…The NFIA protein product is a sequence-specific transcription factor that regulates numerous adenoviral and cellular genes, and is independently proficient in activating cellular transcription and replication. It was recently reported that an investigation of acute erythroid leukemia containing t(1;16)(p31;q24) uncovered a gene fusion between NFIA/ C BFA2T3 (29). …”

Section: Resultsmentioning

confidence: 99%

Genomic Integration of High-Risk HPV Alters Gene Expression in Oropharyngeal Squamous Cell Carcinoma

Walline

Komarck

McHugh

et al. 2016

Molecular Cancer Research

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High-risk HPV (hrHPV) is the leading etiologic factor in oropharyngeal cancer. HPV-positive oropharyngeal tumors generally respond well to therapy, with complete recovery in approximately 80% of patients. However, it remains unclear why some patients are non-responsive to treatment, with 20% of patients recurring within 5 years. In this study, viral factors were examined for possible clues to differences in tumor behavior. Oropharynx tumors that responded well to therapy were compared to those that persisted and recurred. Viral oncogene alternate transcripts were assessed and cellular sites of viral integration were mapped and sequenced. Effects of integration on gene expression were assessed by transcript analysis at the integration sites. All of the tumors demonstrated active viral oncogenesis, indicated by expression of HPV E6 and E7 oncogenes and alternate E6 splicing. In the responsive tumors, HPV integration occurred exclusively in intergenic chromosome regions, except for one tumor with viral integration into TP63. Each recurrent tumor exhibited complex HPV integration patterns into cancer-associated genes, including: TNFRSF13B, SCN2A, SH2B1, UBE2V2, SMOC1, NFIA, and SEMA6D. Disrupted cellular transcripts were identified in the region of integration in four of the seven affected genes. Implications Integration of transcriptionally active hrHPV into cellular intergenic regions associates with tumor behavior by altering gene expression.

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Section: Resultsmentioning

confidence: 99%

Genomic Integration of High-Risk HPV Alters Gene Expression in Oropharyngeal Squamous Cell Carcinoma

Walline

Komarck

McHugh

et al. 2016

Molecular Cancer Research

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“…At a cytogenetic level, most cases of PEL have a complex karyotype, with frequent abnormalities involving chromosomes 5 and 7 . Occasional fusion genes secondary to chromosomal translocations have been described in PEL, such as t(1;16)(p31;q24)/NFIA‐CBFA2T3 and t(11;20)(p11;q11)/ZMYND8‐RELA …”

Section: Geneticsmentioning

confidence: 99%

Pure erythroid leukemia

Wang

Medeiros

et al. 2017

American J Hematol

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The category of acute erythroid leukemia was significantly revised in the recently published 2016 revision to the World Health Organization (WHO) classification of myeloid neoplasms. In the previous 2008 WHO classification, acute erythroid leukemia was categorized into two subtypes: erythroleukemia and pure erythroid leukemia (PEL), whereas in the 2016 WHO update, erythroleukemia was merged into myelodysplastic syndrome, and PEL becomes the only type of acute erythroid leukemia. PEL is a rare and aggressive form of acute leukemia whose biology remains poorly characterized. In this review, we discuss the clinicopathologic features, diagnosis, putative pathogenesis, and molecular biology of PEL, with an overview of novel concepts and future directions in this area.wileyonlinelibrary.com/journal/ajh Am J Hematol. 2017;92:292-296

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“…Fusion genes brought about by chromosomal translocations have also been reported in acute erythroid leukemias: NPM1/MLF1 resulting from t(3;5)(q25;q35), RPN1/PRDM16 from t(1;3)(p36;q21), PCM1/JAK2 from t(8;9)(p22;p24), and NUP98/HOXD13 from t(2;11)(q31;p15) (http://cgap.nci.nih.gov/Chromosomes/Mitelman; database last update February 18, 2013). Recently we described a chimeric NFIA/CBFA2T3 gene in a 15-month-old boy with acute erythroid leukemia carrying the chromosomal translocation t(1;16)(p31;q22) [5], [6]. In the present study, we report the fusion of the genes ZMYND8 and RELA in the bone marrow cells from an infant with erythroid leukemia.…”

Section: Introductionmentioning

confidence: 55%

“…Fusion genes caused by chromosomal aberrations often seen as the sole change at cytogenetic analysis are assumed to represent primary tumorigenic events, the paradigmatic example being BCR-ABL and the Philadelphia chromosome [8]. Thus, the combination of karyotyping by banding cytogenetics with next generation RNA sequencing is a powerful tool to detect such fusion genes in cancer as demonstrated both here and in our previous report [6].…”

Section: Resultsmentioning

confidence: 75%

Fusion of ZMYND8 and RELA Genes in Acute Erythroid Leukemia

et al. 2013

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Acute erythroid leukemia was diagnosed in a 4-month-old boy. Cytogenetic analysis of bone marrow (BM) cells showed a t(11;20)(p11;q11) translocation. RNA extracted from the BM was sequenced and analyzed for fusion transcripts using the software FusionMap. A ZMYND8-RELA fusion was ranked first. RT-PCR and direct sequencing verified the presence of an in frame ZMYND8-RELA chimeric transcript. Fluorescence in situ hybridization showed that the ZMYND8-RELA was located on the p12 band of der(11); therefore a cytogenetically invisible pericentric inversion in chromosome 11 must have taken place besides the translocation. The putative ZMYND8-RELA fusion protein contains the Zinc-PHD finger domain, a bromodomain, a PWWP domain, a MYND type of zinc finger of ZMYND8, and the entire RELA protein, indicating that it might act leukemogenically by influencing several cellular processes including the NF-kappa-B pathway.

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High-throughput sequencing identifies an NFIA/CBFA2T3 fusion gene in acute erythroid leukemia with t(1;16)(p31;q24)

Cited by 40 publications

References 11 publications

Genomic Integration of High-Risk HPV Alters Gene Expression in Oropharyngeal Squamous Cell Carcinoma

Genomic Integration of High-Risk HPV Alters Gene Expression in Oropharyngeal Squamous Cell Carcinoma

Pure erythroid leukemia

Fusion of ZMYND8 and RELA Genes in Acute Erythroid Leukemia

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