No V(H) somatic hypermutation was detected in B-cells of a patient with macroglobulinemia due to splenic marginal zone lymphoma.
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.
Sekikawa
Tetsuaki
T
Department of Hematology/Oncology (Aoto Hospital), Tokyo, Japan.
Takahara
Shinobu
S
Kawano
Takeshi
T
Nakada
Shuji
S
Ito
Kiyoshi
K
Iwase
Satsuki
S
Yamada
Hisashi
H
Kobayashi
Masayuki
M
Horiguchi-Yamada
Junko
J
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
D007135:Immunoglobulin Variable Region