title: No V(H) somatic hypermutation was detected in B-cells of a patient with macroglobulinemia due to splenic marginal zone lymphoma.
abstract: B-cell diseases are classified on the basis of the normal differentiation stages. We report here a case of a patient with a long history of leukocytosis, splenomegaly without lymphadenopathy, and hyperviscosity symptoms. Clinically, the patient's diagnosis was leukemic Waldenstrom macroglobulinemia. Chromosomal analysis revealed translocation t(2;7)(p11;q22) along with disease progression. Death occurred from pulmonary infection at 46 months after the initial presentation. At autopsy, malignant lymphocytes were found in the marginal areas of the spleen with spreading to the bone marrow and the liver. The histologic findings were consistent with splenic marginal zone lymphoma. We examined the sequences of the immunoglobulin V(H) gene in cells from the initial peripheral blood and from the spleen at autopsy and found that the sequences were identical and had no somatic hypermutation. Macroglobulinemia can occur in various B-cell disorders, including splenic marginal zone lymphoma, even with the transformation of unmutated B-lymphocytes.
authors.affiliation: Department of Hematology/Oncology (Aoto Hospital), Tokyo, Japan.
authors.forename: Tetsuaki
authors.initials: T
authors.lastname: Sekikawa
authors.forename: Shinobu
authors.initials: S
authors.lastname: Takahara
authors.forename: Takeshi
authors.initials: T
authors.lastname: Kawano
authors.forename: Shuji
authors.initials: S
authors.lastname: Nakada
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Ito
authors.forename: Satsuki
authors.initials: S
authors.lastname: Iwase
authors.forename: Hisashi
authors.initials: H
authors.lastname: Yamada
authors.forename: Masayuki
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Junko
authors.initials: J
authors.lastname: Horiguchi-Yamada
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology; D002999:Clone Cells / Q000473:pathology; D005803:Genes, Immunoglobulin; D006801:Humans; D007135:Immunoglobulin Variable Region / Q000235:genetics; D016393:Lymphoma, B-Cell / Q000150:complications / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013160:Splenic Neoplasms / Q000150:complications / Q000473:pathology*; D008258:Waldenstrom Macroglobulinemia / Q000209:etiology / Q000235:genetics* / Q000473:pathology
chemical_list: D007135:Immunoglobulin Variable Region