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Blood, 15 February 2002, Vol. 99, No. 4, pp. 1299-1304
NEOPLASIA
Analysis of the IgVH somatic mutations in
splenic marginal zone lymphoma defines a group of unmutated cases
with frequent 7q deletion and adverse clinical
course
Patricia Algara,
Marisol S. Mateo,
Margarita Sanchez-Beato,
Manuela Mollejo,
Immaculada C. Navas,
Lourdes Romero,
Francesc Solé,
Marta Salido,
Lourdes Florensa,
Pedro Martínez,
Elias Campo, and
Miguel A. Piris
From the Department of Genetics and Pathology, Virgen
de la Salud Hospital, Toledo, Spain; the Centro Nacional de
Investigaciones Oncologicas (CN10), Programa de Patologia Molecular,
Madrid, Spain, the Laboratory of Citología Hematológica,
Department of Pathology, Hospital del Mar, Barcelona, Spain; and the
Department of Pathology, Hospital Clinic, Barcelona, Spain.
This study aimed to correlate the frequency of somatic mutations in
the IgVH gene and the use of specific segments
in the VH repertoire with the clinical and
characteristic features of a series of 35 cases of splenic marginal
zone lymphoma (SMZL). The cases were studied by seminested polymerase
chain reaction by using primers from the FR1 and JH region.
The results showed unexpected molecular heterogeneity in this entity,
with 49% unmutated cases (less than 2% somatic mutations). The 7q31
deletions and a shorter overall survival were more frequent in this
group. Additionally a high percentage (18 of 40 sequences) of SMZL
cases showed usage of the VH1-2 segment, thereby
emphasizing the singularity of this neoplasia, suggesting that this
tumor derives from a highly selected B-cell population and encouraging
the search for specific antigens that are pathogenically relevant in
the genesis or progression of this tumor.
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