Mature B‐ and T‐cell Neoplasms and Hodgkin Lymphoma

Siebert, Reiner

doi:10.1002/9781118010136.ch10

Cited by 6 publications

(7 citation statements)

References 400 publications

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“…1 They may act as cancer-initiating events or may be involved in tumor progression. 2 The presence, or absence, of chromosomal translocations can be of pivotal importance in establishing the correct diagnosis and in predicting the course of the disease. Well-known translocations in B-cell lymphomas are those involving chromosomal bands/gene loci 18q21/BCL2, 3q27/BCL6 and 8q24/MYC.…”

Section: Introductionmentioning

confidence: 99%

Biological characterization of adult MYC-translocation-positive mature B-cell lymphomas other than molecular Burkitt lymphoma

et al. 2013

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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 nphomas. In BL the MYC translocation always involves one of the immunoglobulin loci (most commonly IGH, alternatively IGL or IGK) and is considered a disease-initiating event which occurs in the context of a rather simple karyotype. Indeed, the genomic complexity in BL is, overall, low. [6][7][8] In contrast, MYC translocations in other mature Bcell lymphomas frequently involve non-IG partners and are mostly found in complex karyotypes, often in addition to well-known primary aberrations including the IGH-BCL2 translocation.6,9-11 Consequently, they likely occur during disease progression rather than disease initiation. Indeed, in 20-80% of cases of DLBCL and BCLU with a MYC breakpoint, there is an accompanying BCL2 and/or BCL6 breakpoint. [12][13][14][15][16] According to the World Health Organization (WHO) classification, lymphomas in which such a combination of a MYC break with a BCL2 break and/or a BCL6 break (fur- (DHL). 4 All other lymphomas with a MYC breakpoint, irrespective of the presence of other aberrations, are called "single-hit" lymphomas (SHL). MYC breaks are seen in approximately 10% (3-17%) of all DLBCL and 15-20% of FL grade 3B, 17,18 representing on average a DHL in 50-60%. 14,[16][17][18][19][20] This also implies that the remaining 40-50% of MYC + lymphomas are "single-hit" and that their importance, despite this high percentage, might have been underappreciated. These lymphomas with MYC translocations, including DHL, have received increased attention because several studies showed them to run an aggressive clinical course. 9,11,21 However, gene expression and other molecular genetic data are scarce 3,22 and, consequently, the molecular make up of DHL and SHL other than BL remains largely unknown. Moreover, it is unclear in which pathological and molecular aspects DHL differs from SHL other than molecular Burkitt lymphoma (mBL).therIn that respect it should be noted that, in the presence or absence of a MYC break, oncogenes other than BCL2 and BCL6, including BCL3, chromosomal locus 9p13 (potentially affecting PAX5), CCNE1, as well as unknown partners involved in IGH breaks, can be deregulated through juxtaposition to one of the IG-loci. 16,[23][24][25][26] Breakpoints affecting both MYC and these genes might, therefore, also point to a DHL, although according to the WHO classification they are defined as SHL. 4 To investigate differences and similarities between SHL and DHL as well as between BCL2 + /MYC + and BCL6+ /MYC + DHL we explored the morphological, immunohistochemical, genetic and gene expression features of 80 adult MYC + mature aggressive B-cell lymphomas other than mBL. Methods Sample selection and pathology reviewAll lymphomas were investigated as part of the Molecular Mechanisms in Malignant Lymphomas (MMML) network project. The MMML protocols have been approved centrally by the institutional review board of the coordination center in Göttingen, Germany. All cases with an mBL gene expression signature (see Bioinformatica...

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Section: Introductionmentioning

confidence: 99%

Biological characterization of adult MYC-translocation-positive mature B-cell lymphomas other than molecular Burkitt lymphoma

et al. 2013

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“…[1][2][3][4][5] In most cases an oncogene is deregulated by juxtaposition to an enhancer of the immunoglobulin (IG) loci, whereas promoter substitution or fusion of genes leading to fusion proteins are less frequent. Certain translocations are characteristic for a specific type of lymphoma and are often considered as cancer-initiating events.…”

Section: Introductionmentioning

confidence: 99%

Double-hit B-cell lymphomas

Aukema

Siebert

Schuuring

et al. 2011

Blood

Self Cite

608

579

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“…The changes in case 2 were those commonly seen in CLL (deletion 13q and deletion ATM). IGH rearrangement and deletion 7q were also detected, which can occur in CLL, but uncommonly . In cases 3 and 5, the karyotype and/or FISH results were characteristic of PCN, reflecting the predominance of PCN.…”

Section: Resultsmentioning

confidence: 93%

Practical diagnostic approaches to composite plasma cell neoplasm and low grade B‐cell lymphoma/clonal infiltrates in the bone marrow

Hussein

Gill

Baer

et al. 2014

Hematological Oncology

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Composite plasma cell neoplasm (PCN) and low grade B-cell lymphoma (B-NHL) in the bone marrow are uncommon and raise the differential diagnosis of B-NHL with plasmacytic differentiation and PCN with lymphoplasmacytic morphology. This can be a challenging differential diagnosis, and the distinctions are important because of differences in management. We report five cases of composite PCN with B-NHL or clonal B-cell infiltrates involving the bone marrow. By using multiple different diagnostic modalities, including immunophenotyping by flow cytometry and immunohistochemistry, cytogenetic analysis and IGH gene rearrangement studies by polymerase chain reaction, we were able to distinguish two distinct clonally unrelated neoplasms in all cases. We describe the utility and pitfalls of these different diagnostic modalities. Flow cytometric analysis with a panel of antibodies that includes CD19, CD56, CD138, CD45 and other aberrant markers commonly expressed by PCN will allow identification of clonally unrelated PCN and B-NHL in a composite neoplasm, and distinguish them from B-NHL with plasmacytic differentiation and PCN with lymphoplasmacytic morphology. Cytogenetic and molecular analyses can give false-negative or false-positive results. In summary, a multimodal approach utilizing these different tools, including clinical data, should be used to arrive at the correct diagnosis.

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Mature B‐ and T‐cell Neoplasms and Hodgkin Lymphoma

Cited by 6 publications

References 400 publications

Biological characterization of adult MYC-translocation-positive mature B-cell lymphomas other than molecular Burkitt lymphoma

Biological characterization of adult MYC-translocation-positive mature B-cell lymphomas other than molecular Burkitt lymphoma

Double-hit B-cell lymphomas

Practical diagnostic approaches to composite plasma cell neoplasm and low grade B‐cell lymphoma/clonal infiltrates in the bone marrow

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