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New Biology

Cytogenetics of lymphomas

Pages 493-507 | Received 20 Jun 2005, Accepted 29 Aug 2005, Published online: 06 Jul 2009
 

Abstract

Cytogenetic analysis is now a routine part of the diagnosis and management of a significant number of lymphoid malignancies. Whilst conventional cytogenetics remains the most comprehensive method for assessing chromosome abnormalities, the technical difficulties associated with conventional cytogenetics in most lymphomas has resulted in increased use of fluorescence in situ hybridisation (FISH) to identify specific abnormalities that are useful in either the diagnosis or management of these disorders. The finding of one of the Burkitt's translocations is of major importance in the diagnosis of Burkitt's and Burkitt's‐like lymphomas, whereas the t(14;18), although seen in most follicular lymphomas (FL), is not usually required to make a diagnosis. Thus, whilst cytogenetics may be of interest in FL, it is not an essential part of the diagnostic work‐up. Conventional cytogenetics may be useful for identifying markers of resistance to Helicobacter pylori therapy in MALT lymphomas. In disorders such as Hodgkin lymphoma, hairy cell leukaemia and lymphoplasmacytoid lymphoma, although many cytogenetic abnormalities have been observed, no consistent or specific abnormalities have been identified and so, at this point in our knowledge of the genetics of these disorders, cytogenetics cannot be considered a useful test for either diagnosis or prognosis.

In contrast, the diagnosis of mantle cell lymphoma is now dependent upon the identification of the 11;14 translocation that results in cyclin D1 up‐regulation. It is widely acknowledged that FISH is the most consistently useful test to identify the juxtaposition of the CCND1 and IGH genes in mantle cell lymphoma and is regarded as the ‘gold standard’. FISH also has a role in identifying genetic abnormalities of prognostic significance in chronic lymphocytic leukaemia. Given the wealth of genetic and cytogenetic abnormalities that are continuing to be found in chronic lymphoid malignancies, it will be some time before the optimal use of both conventional cytogenetics and FISH is established in the diagnosis and management of lymphomas.

Abbreviations
BL=

Burkitt's lymphoma

BLL=

Burkitt's‐like lymphoma

CGH=

comparative genomic hybridisation

CLL=

chronic lymphocytic leukaemia

DLBCL=

diffuse large B‐cell lymphoma

FISH=

fluorescence in situ hybridisation

FL=

follicular lymphoma

HL=

Hodgkin lymphoma

M‐FISH=

multicolour FISH

MALT=

mucosa‐associated lymphoid tissue

MCL=

mantle cell lymphoma

MZBCL=

marginal zone B‐cell lymphoma

NHL=

non‐Hodgkin lymphoma

SKY=

spectral karyotyping

Abbreviations
BL=

Burkitt's lymphoma

BLL=

Burkitt's‐like lymphoma

CGH=

comparative genomic hybridisation

CLL=

chronic lymphocytic leukaemia

DLBCL=

diffuse large B‐cell lymphoma

FISH=

fluorescence in situ hybridisation

FL=

follicular lymphoma

HL=

Hodgkin lymphoma

M‐FISH=

multicolour FISH

MALT=

mucosa‐associated lymphoid tissue

MCL=

mantle cell lymphoma

MZBCL=

marginal zone B‐cell lymphoma

NHL=

non‐Hodgkin lymphoma

SKY=

spectral karyotyping

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