Stamatoullas A, Buchonnet G, Lepretre S, Lenain P, Lenormand B, Duval C, Callat M P, Gaulard P, Bastard C, Tilly H
Département d'Hematologie, Centre Henri Becquerel, Rouen, France.
Leukemia. 2000 Nov;14(11):1960-6. doi: 10.1038/sj.leu.2401910.
The t(14;18)(q32;q21) translocation is the most common translocation in B cell malignancies being found in 80% of follicular lymphomas and about 20% of diffuse large B cell lymphomas. Only rare cases of de novo acute B cell lymphoblastic leukemia with t(14;18) have been described. We describe five cases of this entity which appears to have very homogeneous clinical, phenotypic and genotypic features. None of these patients had prior history of follicular lymphoma. The disease was characterized by acute clinical features with nodal and/or extranodal disease, massive bone marrow infiltration and rapid increase of circulating blast cells of mature B cell phenotype. All patients disclosed complex chromosomal and molecular abnormalities involving at least the BCL-2 and c-MYC genes. Furthermore, three patients had evidence of BCL-6 involvement and one patient had a p53 mutation. Despite intensive chemotherapy, including for two patients allogeneic bone marrow transplantation in first complete remission, all patients died within a few months. Neuro-meningeal relapse occurred in three of the five patients in spite of neuro-meningeal prophylaxis. De novo leukemia/lymphoma with t(14;18) is a rare entity with a very poor prognosis. Whether early bone marrow transplant could modify the natural history of the disease remains to be determined. An intensive neuro-meningeal prophylaxis appears to be mandatory in these patients.
t(14;18)(q32;q21)易位是B细胞恶性肿瘤中最常见的易位,在80%的滤泡性淋巴瘤和约20%的弥漫性大B细胞淋巴瘤中均可发现。仅罕见的新发急性B细胞淋巴细胞白血病伴t(14;18)的病例被描述过。我们描述了5例该实体病例,其似乎具有非常一致的临床、表型和基因型特征。这些患者均无滤泡性淋巴瘤病史。该疾病的特征为急性临床特征,伴有淋巴结和/或结外病变、大量骨髓浸润以及成熟B细胞表型的循环原始细胞迅速增加。所有患者均表现出复杂的染色体和分子异常,至少涉及BCL-2和c-MYC基因。此外,3例患者有BCL-6受累的证据,1例患者有p53突变。尽管进行了强化化疗,包括2例患者在首次完全缓解时接受了异基因骨髓移植,但所有患者均在数月内死亡。5例患者中有3例发生了神经脑膜复发,尽管采取了神经脑膜预防措施。新发伴t(14;18)的白血病/淋巴瘤是一种罕见实体,预后极差。早期骨髓移植是否能改变该疾病的自然病程仍有待确定。对这些患者而言,强化的神经脑膜预防措施似乎是必需的。