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  • 1
    Abstract: Burkitt lymphoma (BL) is the most frequent B-cell lymphoma in childhood. Genetically, it is characterized by the presence of an IG-MYC translocation which is supposed to be an initiating but not sufficient event in Burkitt lymphomagenesis. In a recent whole-genome sequencing study of four cases, we showed that the gene encoding the ras homolog family member A (RHOA) is recurrently mutated in pediatric BL. Here, we analyzed RHOA by Sanger sequencing in a cohort of 101 pediatric B-cell lymphoma patients treated according to Non-Hodgkin's Lymphoma Berlin-Frankfurt-Munster (NHL-BFM) study protocols. Among the 78 BLs in this series, an additional five had RHOA mutations resulting in a total incidence of 7/82 (8.5%) with c.14G〉A (p.R5Q) being present in three cases. Modeling the mutational effect suggests that most of them inactivate the RHOA protein. Thus, deregulation of RHOA by mutation is a recurrent event in Burkitt lymphomagenesis in children. (c) 2014 Wiley Periodicals, Inc.
    Type of Publication: Journal article published
    PubMed ID: 25044415
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  • 2
    Abstract: Translocations affecting chromosome subband 6p25.3 containing the IRF4 gene have been recently described as characteristic alterations in a molecularly distinct subset of germinal center B-cell-derived lymphomas. Secondary changes have yet only been described in few of these lymphomas. Here, we performed array-comparative genomic hybridization and molecular inversion probe microarray analyses on DNA from 12 formalin-fixed paraffin-embedded and two fresh-frozen IRF4 translocation-positive lymphomas, which together with the previously published data on nine cases allowed the extension of copy number analyses to a total of 23 of these lymphomas. All except one case carried chromosomal imbalances, most frequently gains in Xq28, 11q22.3-qter, and 7q32.1-qter and losses in 6q13-16.1, 15q14-22.31, and 17p. No recurrent copy-neutral losses of heterozygosity were observed. TP53 point mutations were detected in three of six cases with loss of 17p. Overall this study unravels a recurrent pattern of secondary genetic alterations in IRF4 translocation-positive lymphomas. (c) 2012 Wiley Periodicals, Inc.
    Type of Publication: Journal article published
    PubMed ID: 23073988
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  • 3
    Abstract: The genetic hallmark of Burkitt lymphoma (BL) is the t(8;14)(q24;q32) and its variants leading to activation of the MYC oncogene. It is a matter of debate whether true BL without MYC translocation exists. Here, we identified 59 lymphomas concordantly called BL by 2 gene expression classifiers among 753 B-cell lymphomas. Only 2 (3%) of these 59 molecular BL lacked a MYC translocation, which both shared a peculiar pattern of chromosome 11q aberration characterized by interstitial gains including 11q23.2-q23.3 and telomeric losses of 11q24.1-qter. We extended our analysis to 17 MYC-negative high-grade B-cell lymphomas with a similar 11q aberration and showed this aberration to be recurrently associated with morphologic and clinical features of BL. The minimal region of gain was defined by high-level amplifications in 11q23.3 and associated with overexpression of genes including PAFAH1B2 on a transcriptional and protein level. The recurrent region of loss contained a focal homozygous deletion in 11q24.2-q24.3 including the ETS1 gene, which was shown to be mutated in 4 of 16 investigated cases. These findings indicate the existence of a molecularly distinct subset of B-cell lymphomas reminiscent of BL, which is characterized by deregulation of genes in 11q.
    Type of Publication: Journal article published
    PubMed ID: 24398325
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  • 4
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Periodisches Fieber ; Aphthöse Stomatitis ; Pharyngitis ; Zervikale Lymphadenitis ; Prednison ; Tonsillektomie ; Cimetidin ; Key words Periodic fever ; Aphthous stomatitis ; Pharyngitis ; Cervical adenitis ; Prednisone ; Tonsillectomy ; Cimetidine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Background: Disorders with the key symptom of periodic fever include familial Mediterranean fever, cyclic neutropenia, hyperimmunoglobulinemia D syndrome, and Behçet disease as well as the PFAPA syndrome (perodic fever, aphthous stomatitis pharyngitis, and cervical adenitis). Out of these the PFAPA syndrome probably occurs more frequently than it is diagnosed. Case report: Therefore we present a typical case of PFAPA syndrome including the biopsy of one of the lymph nodes involved: This male infant experienced by the age of 2 1/2 years 8 characteristic episodes of high fever, with all pertaining signs within a period of 12 months. Each time the ESR was markedly elevated as were C-reactive protein and white blood count. The cervical lymph node presented the diagnostic features of a nonspecific lymphadenitis with reticulohistiocytic micro-abscesses. PFAPA syndrome usually starts before the age of 5 years and comes to an end as a self-limiting condition after a course of two to six years without any sequelae. The children thrive and grow normally. Thus the outcome is favorable, the pathogenesis, however, remains unclear. Discussion: PFAPA syndrome has to be added to the hitherto known causes of periodic fever whenever one considers the underlying disease of such a condition. Being aware of the PFAPA syndrome helps to avoid unnecessary tests for the diagnostic work-up and to stay off ineffective trials with common antibiotics. The rationale of prednisone for shortening the single febrile episode as well as tonsillectomy with or without adenectomy or cimetidine as an immunomodulator to abbreviate the overall-course has still to be evaluated.
    Notes: Zusammenfassung Hintergrund: Zu den Erkrankungen mit dem Leitsymptom “periodisches Fieber” wie familiäres Mittelmeerfieber, zyklische Neutropenie, Hyper-IgD-Syndrom und Behçet-Syndrom wird auch das bis heute selten diagnostizierte und vermutlich doch häufiger vorkommende PFAPA-Syndrom (periodisches Fieber, aphthöe Stomatitis, Pharyngitis und zervikale Adenitis) gerechnet. Fallbericht: In der vorliegenden Kasuistik stellen wir einen 2 1/2-jährigen Knaben vor, der innerhalb 1 Jahres 8 Fieberschübe mit Aphthen, gerötetem Pharynx, geschwollenen Halslymphknoten, beschleunigter BKS, erhöhtem CRP-Wert und unterschiedlich ausgeprägter Leukozytose durchmachte. Ein zervikaler Lymphknoten zeigte das Bild einer retikulohistiozytär abszedierten Lymphadenitis. Das Syndrom tritt gewöhnlich vor dem 5. Lebensjahr auf und kommt häufig nach einigen Jahren zum Stillstand. Gedeihen und Wachstum der Kinder bleiben ungestört. Die Prognose gilt deshalb als durchweg gut; die Pathogenese ist noch ungeklärt. Diskussion: Durch das PFAPA-Syndrom wird die Differenzialdiagnose “periodisches Fieber” entscheidend erweitert. Bei Kenntnis des Syndroms mit seiner Symptomatik und seinem typischen Verlauf lässt sich die Diagnose bereits nach den ersten Fieberepisoden vermuten, wobei die Untersuchungen zur Differenzialdiagnose gezielt erfolgen können und frustrane Therapieversuche mit Antibiotika weitgehend vermeidbar sind. Um die Dauer der akuten Episoden abzukürzen, empfehlen einige Autoren die kurzfristige Gabe von Prednison, während andere Kliniker – um weitere Fieberschübe ganz zu unterdrücken – zur Tonsillektomie mit oder ohne Adenotomie raten und wieder andere Autoren über den mehrmonatigen Einsatz von Cimetidin zur Immunmodulation berichten, allerdings mit deutlich geringerer Erfolgsrate.
    Type of Medium: Electronic Resource
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  • 5
    Publication Date: 2018-11-23
    Description: The WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue notes instances of Burkitt lymphoma/leukemia (BL) with IG- MYC rearrangement displaying a B-cell precursor immunophenotype (termed herein "preBLL"). To characterize the molecular pathogenesis of preBLL, we investigated 13 preBLL cases (including 1 cell line), of which 12 were analyzable using genome, exome, and targeted sequencing, imbalance mapping, and DNA methylation profiling. In 5 patients with reads across the IG- MYC breakpoint junctions, we found evidence that the translocation derived from an aberrant VDJ recombination, as is typical for IG translocations arising in B-cell precursors. Genomic changes like biallelic IGH translocations or VDJ rearrangements combined with translocation into the VDJ region on the second allele, potentially preventing expression of a productive immunoglobulin, were detected in 6 of 13 cases. We did not detect mutations in genes frequently altered in BL, but instead found activating NRAS and/or KRAS mutations in 7 of 12 preBLLs. Gains on 1q, recurrent in BL and preB lymphoblastic leukemia/lymphoma (pB-ALL/LBL), were detected in 7 of 12 preBLLs. DNA methylation profiling showed preBLL to cluster with precursor B cells and pB-ALL/LBL, but apart from BL. We conclude that preBLL genetically and epigenetically resembles pB-ALL/LBL rather than BL. Therefore, we propose that preBLL be considered as a pB-ALL/LBL with recurrent genetic abnormalities.
    Keywords: Lymphoid Neoplasia, Brief Reports
    Print ISSN: 0006-4971
    Electronic ISSN: 1528-0020
    Topics: Biology , Medicine
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