Waldenstroms Macroglobulinemia

华氏大球蛋白血症（WM）是一种相对罕见的生发后中心淋巴浆细胞性肿瘤，分泌大量IgM。虽然WM与淋巴浆细胞性淋巴瘤和多发性骨髓瘤有一些相似之处，但对WM的分子发病机制知之甚少。我们之前的研究结果表明，在WM中，IgH开关重组和IgH易位是罕见的，再加上多性性淋巴浆细胞形态表明，IgH开关和浆细胞分化的阻断可能有助于该肿瘤的发病。此外，我们与梅奥诊所的R. Fonseca的合作结果显示：WM肿瘤通常为二倍体或近二倍体，核型异常很少，IgH易位极为罕见。然而，我们发现在至少50%的WM肿瘤中存在6q22小的间质缺失。这些结果提示WM的分子发病机制更像慢性淋巴细胞白血病（CLL）而不是多发性骨髓瘤（MM）。最后，我们是DCEG项目的合作者，该项目旨在鉴定来自有两个或两个以上WM或IgM MGUS个体的家庭成员的正常细胞和肿瘤细胞中发生的遗传异常。

Waldenstrom's macroglobulinemia (WM) is a relatively rare post-germinal center lymphoplasmacytic tumor that secretes large amounts of IgM. Although WM has some similarities to lymphoplasmacytic lymphoma and multiple myeloma, very little is known about the molecular pathogenesis of WM. Our previous results indicate that IgH switch recombination and IgH translocations are rare in WM, which together with the pleotropic lymphoplasmacytic morphology suggest that a block to IgH switching and plasma cell differentiation may contribute to the pathogenesis of this tumor. In addition, our collaborative results with R. Fonseca at the Mayo Clinic showed the following: WM tumors usually are diploid or near diploid with few karyotypic abnomalities, and IgH translocations are extremely rare. However, we have found that small interstitial deletions at 6q22 are present in at least 50% of WM tumors. These results suggest that the molecular pathogeneis of WM is more like chronic lymphocytic leukemia (CLL) than multiple myeloma (MM). Finally, we were collaborators in a DCEG project to identify genetic abnormalities that occur in normal and tumor cells derived from individuals who are are members of families that have two or more individuals with WM or IgM MGUS.