Molecular characterization of complete and incomplete immunoglobulin heavy chain gene rearrangements in hairy cell leukemia.


Autoria(s): Martín-Jiménez, P.; García-Sanz, R.; González, D.; Balanzategui, A.; Pérez, J.J.; Caballero, M.D.; Sarasquete, M.E.; Galende, J.; Orfao, A.; López-Berges, M.C.; San Miguel, J.F.; González, M.
Data(s)

01/11/2007

Resumo

PURPOSE: We analyzed patients with hairy cell leukemia (HCL) to achieve a better understanding of the differentiation stage reached by HCL cells and to define the key role of the diversification of cell surface makers, especially CD25 expression. PATIENTS AND METHODS: We analyzed 38 previously untreated patients with HCL to characterize their complete (VDJ(H)) and incomplete (DJ(H)) immunoglobulin (Ig) heavy chain (IgH) rearrangements, including somatic hypermutation pattern and gene segment use. RESULTS: A correlation between immunophenotypic profile and molecular data was seen. All 38 cases showed monoclonal amplifications: VDJ(H) in 97%, DJ(H) in 42%, and both in 39%. Segments from the D(H)3 family were used more in complete compared with incomplete rearrangements (45% vs. 12%; P <.005). Furthermore, comparison between molecular and immunophenotypic characteristics disclosed differences in the expression of CD25 antigen; CD25(-) cases, a phenotype associated with HCL variant, showed complete homology to the germline in 3 of 5 cases (60%), whereas this characteristic was never observed in CD25(+) cases (P <.005). Moreover, V(H)4-34, V(H)1-08, and J(H)3 segments appeared in 2, 1, and 2 CD25(-) cases, respectively, whereas they were absent in all CD25(+) cases. CONCLUSION: These results support that HCL is a heterogeneous entity including subgroups with different molecular characteristics, which reinforces the need for additional studies with a larger number of patients to clarify the real role of gene rearrangements in HCL.

Identificador

http://pure.qub.ac.uk/portal/en/publications/molecular-characterization-of-complete-and-incomplete-immunoglobulin-heavy-chain-gene-rearrangements-in-hairy-cell-leukemia(fce58fa5-a3c1-4b22-8431-71edb8f97650).html

Idioma(s)

eng

Direitos

info:eu-repo/semantics/restrictedAccess

Fonte

Martín-Jiménez , P , García-Sanz , R , González , D , Balanzategui , A , Pérez , J J , Caballero , M D , Sarasquete , M E , Galende , J , Orfao , A , López-Berges , M C , San Miguel , J F & González , M 2007 , ' Molecular characterization of complete and incomplete immunoglobulin heavy chain gene rearrangements in hairy cell leukemia. ' CLINICAL LYMPHOMA & MYELOMA , vol 7 , no. 9 , pp. 573-579 .

Palavras-Chave #Gene Rearrangement #Genome, Human #Humans #Immunoglobulin Heavy Chains #Immunophenotyping #Leukemia, Hairy Cell #Mutation #VDJ Exons
Tipo

article