Pistoia V, Roncella S, Di Celle P F, Sessarego M, Cutrona G, Cerruti G, Boccaccio G P, Grossi C E, Foà R, Ferrarini M
Servizio di Immunologia Clinica, Istituto Nazionale per la Ricerca sul Cancro, Genova, Italy.
Blood. 1991 Aug 1;78(3):797-804.
A patient is described who presented with a chronic lymphocytic leukemia (CLL) and later developed a lymphoblastic lymphoma. The cells from the CLL were typical mature B lymphocytes as could be assessed by morphologic, cytochemical, and surface marker analyses. The cells from the lymphoblastic lymphoma were immature B cells that expressed CD10, CD20, and HLA-DR markers, but not surface Ig or cytoplasmic mu chains, and were negative for terminal deoxynucleotidyl transferase (TdT). The cells of two continuous cell lines, obtained from the bone marrow and the peripheral blood of the patient, had the same phenotype as the lymphoblastic lymphoma cells, did not contain the Epstein-Barr virus genome, and displayed malignant features in vitro, including the capacity to form colonies in agar. The two cell lines also shared identical chromosomal abnormalities, a finding which suggests that they derived from the same malignant cell already present in vivo. Such chromosomal abnormalities were not seen in the karyotype of the peripheral blood cells at the onset of the disease. Analysis of the Ig heavy chain genes using a DJ-specific probe showed the very same monoclonal rearrangement in the cells from the B-CLL, the lymphoblastic lymphoma and the two cell lines, thus demonstrating their common clonal origin. By contrast, a monoclonal rearrangement of the lambda chain gene locus was found in the B-CLL cells only, a finding consistent with their exclusive capacity to express surface IgM lambda. This patient represents a rare case in whom a chronic lymphoproliferative disorder with mature malignant cells transforms into a lymphoblastic lymphoma characterized by cells frozen at a very early maturational stage. The possible mechanisms leading to such transformation within the same cell clone are discussed.
本文描述了一名患者，该患者最初被诊断为慢性淋巴细胞白血病（CLL），随后发展为淋巴母细胞淋巴瘤。通过形态学、细胞化学和表面标志物分析评估，CLL的细胞为典型的成熟B淋巴细胞。淋巴母细胞淋巴瘤的细胞为未成熟B细胞，表达CD10、CD20和HLA-DR标志物，但不表达表面Ig或细胞质μ链，且末端脱氧核苷酸转移酶（TdT）呈阴性。从患者骨髓和外周血中获得的两个连续细胞系的细胞，具有与淋巴母细胞淋巴瘤细胞相同的表型，不含有EB病毒基因组，并在体外表现出恶性特征，包括在琼脂中形成集落的能力。这两个细胞系还具有相同的染色体异常，这一发现表明它们源自体内已存在的同一恶性细胞。在疾病发作时外周血细胞的核型中未观察到这种染色体异常。使用DJ特异性探针分析Ig重链基因显示，B-CLL、淋巴母细胞淋巴瘤和两个细胞系的细胞中存在完全相同的单克隆重排，从而证明它们具有共同的克隆起源。相比之下，仅在B-CLL细胞中发现了λ链基因位点的单克隆重排，这一发现与它们仅表达表面IgMλ的能力一致。该患者代表了一种罕见的病例，即具有成熟恶性细胞的慢性淋巴细胞增殖性疾病转变为以处于非常早期成熟阶段的细胞为特征的淋巴母细胞淋巴瘤。本文讨论了同一细胞克隆内导致这种转变的可能机制。
