Stellmacher Florian, Sotlar Karl, Balleisen Leopold, Valent Peter, Horny Hans-Peter
Institute of Pathology, University of Lübeck, Ratzeburger Allee 160, D-23538, Lübeck, Germany.
Leuk Lymphoma. 2004 Apr;45(4):801-5. doi: 10.1080/10428190310001615693.
An association between mastocytosis and monoclonal gammopathy is a relatively rare but well recognized clinical finding. In the majority of cases, however, overt myeloma or lymphoma is not detectable morphologically. Here we describe the case of a 51 year-old male patient first presenting with paresis of the right facial nerve and the serological finding of IgM kappa paraproteinemia. The patient did not have organomegaly, lytic bone lesions, or urticaria pigmentosa-type skin lesions. Histological examination of a trephine biopsy specimen revealed the unusual coexistence of plasma cell myeloma and mastocytosis. Immunohistochemically, plasma cells were found to exhibit a monotypic staining for Ig heavy chain mu and Ig light chain kappa, thus confirming their neoplastic nature. Mast cells showed prominent spindling and formed dense multifocal infiltrates, thus enabling the diagnosis of bone marrow mastocytosis. Immunohistochemically, mast cells expressed tryptase, chymase, and KIT (CD117). In addition, aberrant expression of CD25 on mast cells was detected, confirming the coexistence of a neoplastic mast cell-proliferative disorder. According to the WHO proposal for classification of hematopoietic malignancies, this unique case, showing the association of two very rare haematologic neoplasms, can therefore best be referred to as bone marrow mastocytosis associated with IgM kappa plasma cell myeloma (SM-AHNMD).
肥大细胞增多症与单克隆丙种球蛋白病之间的关联是一种相对罕见但已得到充分认识的临床发现。然而,在大多数病例中,形态学上无法检测到明显的骨髓瘤或淋巴瘤。在此,我们描述了一名51岁男性患者的病例,该患者最初表现为右侧面神经麻痹以及IgM κ副蛋白血症的血清学检查结果。该患者没有器官肿大、溶骨性骨病变或色素性荨麻疹型皮肤病变。骨髓活检标本的组织学检查显示浆细胞骨髓瘤和肥大细胞增多症异常共存。免疫组织化学检查发现浆细胞对Ig重链μ和Ig轻链κ呈单型染色,从而证实了它们的肿瘤性质。肥大细胞呈现明显的梭形,并形成密集的多灶性浸润,从而得以诊断骨髓肥大细胞增多症。免疫组织化学检查显示肥大细胞表达组织蛋白酶、糜蛋白酶和KIT(CD117)。此外,检测到肥大细胞上CD25的异常表达,证实了肿瘤性肥大细胞增殖性疾病的共存。根据世界卫生组织关于造血系统恶性肿瘤的分类建议,这个独特的病例显示了两种非常罕见的血液肿瘤的关联,因此最好称为与IgM κ浆细胞骨髓瘤相关的骨髓肥大细胞增多症(SM-AHNMD)。