Shah A R, Maeda K, Deegan M J, Roth M S, Schnitzer B
Department of Pathology, Henry Ford Hospital, Detroit, Michigan 48202.
Am J Clin Pathol. 1992 Feb;97(2):184-8. doi: 10.1093/ajcp/97.2.184.
The familial occurrence of chronic lymphocytic leukemia was studied using morphologic, immunophenotypic, cytogenetic, and immunoglobulin gene rearrangement analyses. Three of six siblings developed chronic lymphocytic leukemia. One (patient 1) died 9 years after the diagnosis of chronic lymphocytic leukemia at age 67 years. The other two patients, ages 64 and 68 years (patients 2 and 3, respectively), are alive after chronic lymphocytic leukemia was diagnosed 11 and 4 years ago, respectively. Using the Rye classification, patient 2 and patient 3 had Stage I and Stage O disease, respectively. In contrast, patient 1 had Stage IV disease. The bone marrow of patient 2 was 90% cellular, with sheets of mature lymphocytes, and that of patient 3 was 70% cellular, with a nodular pattern of similar cells. Both patients 2 and 3 had normal karyotypes. Immunophenotyping studies revealed that patient 3 had an expanded population of B cells with minimal to no detectable expression of surface immunoglobulins and membrane-bound light chains. In contrast, the B-cell population of patient 2 expressed immunoglobulins M, D, and Kappa light chains. Gene rearrangement studies performed on these two patients revealed different but distinct patterns of heavy chain rearrangement. This may represent an evolution of two different clones of chronic lymphocytic leukemia in this family.
运用形态学、免疫表型、细胞遗传学及免疫球蛋白基因重排分析方法，对慢性淋巴细胞白血病的家族发病情况进行了研究。六个兄弟姐妹中有三人患慢性淋巴细胞白血病。其中一人（患者1）在67岁时被诊断为慢性淋巴细胞白血病，9年后去世。另外两名患者，年龄分别为64岁和68岁（分别为患者2和患者3），分别在11年前和4年前被诊断为慢性淋巴细胞白血病后仍存活。根据Rye分类法，患者2和患者3分别处于I期和O期疾病。相比之下，患者1处于IV期疾病。患者2的骨髓细胞含量为90%，有大量成熟淋巴细胞片层，患者3的骨髓细胞含量为70%，有类似细胞的结节状模式。患者2和患者3的核型均正常。免疫表型研究显示，患者3的B细胞群体扩大，表面免疫球蛋白和膜结合轻链的表达极少或无法检测到。相比之下，患者2的B细胞群体表达免疫球蛋白M、D和κ轻链。对这两名患者进行的基因重排研究显示，重链重排模式不同但明显有别。这可能代表了该家族中慢性淋巴细胞白血病的两个不同克隆的演变。
