<i>RUNX1</i>
            Translocations and Fusion Genes in Malignant Hemopathies

Braekeleer, Étienne De; Douet‐Guilbert, Nathalie; Morel, Frédéric; Bris, Marie‐Josée Le; Férec, Claude; Braekeleer, Marc De

doi:10.2217/fon.10.158

Cited by 103 publications

(100 citation statements)

References 136 publications

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“…Among these, only a few could be identified as relevant hits recurrently observed in FL. Twelve were known oncogenes (including BCL2, 4 RUNX1, 21 and KDSR, 22 and were also found translocated and/or amplified in 100%, 70% and 30% of our series of FL samples, respectively (Online Supplementary Table S3). Four amplified genes (TOX, BACH2, 23 AFF3, 24 and EBF1, 25 Online Supplementary Figure S4) were functionally related to the GC reaction, and were also found amplified in 100%, 90%, 80%, and 70% of FL, respectively.…”

Section: Follicular Lymphoma In Situmentioning

confidence: 88%

Early lesions of follicular lymphoma: a genetic perspective

Mamessier¹,

Song

Éberlé

et al. 2013

Haematologica

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© F e r r a t a S t o r t i F o u n d a t i o nposed to distinguish FLIS from partial involvement by FL (PFL). In PFL there is greater architectural distortion, and the diagnosis of lymphoma is more evident histologically. However, interestingly, patients with PFL appear to present with low-stage disease, with a relatively low risk of progression and often a very prolonged disease-free interval with limited therapy. 12 Thus, PFL may represent a bona fide early stage in the biological evolution of FL, and not just a limited state of lymph node replacement by a fully developed neoplasm.14 Advances in laser capture microdissection now enable the isolation of even small numbers of cells representative of the clonotypic population, 15 and improvements in genomic methods allow the analysis of genetic aberrations in DNA derived from formalin-fixed, paraffin-embedded tissues. These new technologies now provide the unique opportunity to explore the genetic landscape of these early lesions, and to understand their relationship to overt FL better. Methods SamplesMost cases were selected from formalin-fixed, paraffin-embedded archive specimens submitted to the Hematopathology Section at the National Cancer Institute (NCI) or the Institute of Pathology, at the Medical University of Vienna. Seven cases of FLIS, five cases of PFL and five cases of DFL were identified based on previously published criteria. 11,12 Patients with FLIS and PFL had no other evidence of disease during the period of follow-up. 12 These samples were compared to five cases of FL grade 1-2 and five of FL grade 3A, included as controls of the most frequent alterations occurring in FL. Finally, sections of reactive follicular hyperplasia (RFH, n=2) and laser micro-dissected lymphoid cells from uninvolved areas of FLIS#3 (FLIS background) were also hybridized and used as references for normal cells (Online Supplementary Table S1). Only cases with confirmed t(14;18) were included in the study. The Institutional Review Boards of the NCI and the Medical University of Vienna approved the study. Laser capture microdissection, DNA extraction and quality controlTo obtain sufficient enrichment of lesional cells positive for t(14;18), which was necessary for the genome-wide array analysis, BCL2 + GC were microdissected from the selected FLIS/PFL/DFL/FL grade 1-2 cases. Laser capture microdissection was performed using a Leica LMD6000 (Leica Microsystems, Germany) on hematoxylin-stained slides with BCL2 + immunostained slides as a guide for involved follicles.15 BCL2-negative GC were microdissected from RFH, without evidence of FLIS. Tumor cell DNA was isolated from FL grade 3A without microdissection, given the high tumor cell content (>75%). DNA was extracted using a QIAamp ® DNA FFPE Kit. The amount of DNA collected from the different cases ranged from 506 to 2820 ng. With a calculation of 6.6 pg of DNA/cell this amounts to a minimum of 77,000 cells per case needed for appropriate hybridization. The integrity of the DNA was controlled with an Agilent DNA1...

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Section: Follicular Lymphoma In Situmentioning

confidence: 88%

Early lesions of follicular lymphoma: a genetic perspective

Mamessier¹,

Song

Éberlé

et al. 2013

Haematologica

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“…Therefore, the wild-type protein loses its ability to regulate target genes. 16 In a recent study investigating 39 patients with chronic myeloid leukemia in blast crisis (BC-CML) with either myeloid or lymphoid features, 3 out of 10 patients with a lymphoid BC-CML harbored a RUNX1 mutation indicating a potential role of RUNX1 alterations in lymphatic malignancies which has not yet been discussed. 17 Here, we analyzed the RUNX1 mutation status in a cohort of 128 adult patients harboring T-ALL, B-ALL, or natural killer (NK) cell leukemia to further study the impact of RUNX1 alterations in de novo acute lymphoblastic leukemias.…”

Section: Introductionmentioning

confidence: 99%

Prognostic relevance of RUNX1 mutations in T-cell acute lymphoblastic leukemia

Großmann¹,

Kern²,

Harbich³

et al. 2011

Haematologica

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“…The subtle RUNX1 rearrangements combined with the unique morphology and inconsistencies of the prognosis makes such cases worth reporting. Genetic testing of new AML cases with RUNX1 FISH probe offers the possibility of identification of additional cases with subtle rearrangements or identification of new partner genes of RUNX1 [5][6][7][8] locus. This will enhance the understanding of the prognosis of these rare cases and may ultimately help in the design of a highly effective therapeutic treatment plan.…”

Section: Casementioning

confidence: 99%

Unique RUNX1 Gene Rearrangements in Acute Myeloid Leukemia Identified (AML)

Yenam¹,

A²,

Hollis³

et al. 2017

ICPJL

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Submit Manuscript | http://medcraveonline.com CasesCase 1: A 9 year old male was referred for fever, fatigue, and pancytopenia. Bone marrow analysis revealed hypercellularity with a mixture of myeloblasts and immature monocytes comprising 90% of cells as determined by both morphology and flow cytometry. Molecular analysis for mutations in FLT3, NMP1 and C-KIT were negative, and FISH revealed rearrangement of RUNX1 locus into the chromosome 7p22 region. Karyotype analysis confirmed this finding, revealing a unique translocation: 46, XY, t(7;21) (p22; q22). Three adults and one child have been reported in the literature with AML or high grade MDS with t(7; 21) involving RUNX1-ubiquitin-specific protease gene (USP42) fusion; however, no consistent prognostic information has emerged from these cases to date. Our patient had reinduction chemotherapy and is currently remission, awaiting stem cell We report here five cases of AML with variant translocation partners of RUNX1; a pediatric AML with t(7;21), and four adult secondary AML cases with t(10;21), t(16;21), del(5q)and t(7;21), and t(5;21), respectively. Sequential metaphase FISH with RUNX1 specific probe and Cytogenetics were performed in all cases to identify the partner chromosome in the RUNX1 rearrangements. transplant.Case 2: A 58 year old male was diagnosed with treatment-related AML following urothelial cell carcinoma. In this case, cytogenetics was normal (46,XY) at diagnosis, but follow up bone marrow analysis at four and eleven months later revealed progressive abnormalities (46,XY,del(9)

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RUNX1 Translocations and Fusion Genes in Malignant Hemopathies

Cited by 103 publications

References 136 publications

Early lesions of follicular lymphoma: a genetic perspective

Early lesions of follicular lymphoma: a genetic perspective

Prognostic relevance of RUNX1 mutations in T-cell acute lymphoblastic leukemia

Unique RUNX1 Gene Rearrangements in Acute Myeloid Leukemia Identified (AML)

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