MYD88 L265P 体细胞突变：在 B 细胞淋巴增殖性疾病骨髓累及的鉴别诊断中的作用。

MYD88 L265P somatic mutation: its usefulness in the differential diagnosis of bone marrow involvement by B-cell lymphoproliferative disorders.

机构信息

Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA.

出版信息

Am J Clin Pathol. 2013 Sep;140(3):387-94. doi: 10.1309/AJCP10ZCLFZGYZIP.

DOI:10.1309/AJCP10ZCLFZGYZIP

PMID:23955458

Abstract

OBJECTIVES

To examine the usefulness of the MYD88 L265P somatic mutation in identifying cases of lymphoplasmacytic lymphoma (LPL) from other lymphoplasmacytic neoplasms in bone marrow biopsy specimens.

METHODS

We studied 64 bone marrow biopsy specimens with involvement by various small B-cell lymphomas or plasma cell myeloma.

RESULTS

The MYD88 L265P somatic mutation was present in 13/13 cases of LPL, 1/13 cases of hairy cell leukemia, and absent in the other mature B-cell neoplasms tested. A test set of diagnostically challenging bone marrow cases with lymphoplasmacytoid morphology (B-cell lymphoma, not otherwise specified) was selected for additional review and reclassified, without knowledge of the MYD88 L265P status. Of those 16 cases, 7 were positive for MYD88, including 4/4 cases that were reclassified as LPL during the review.

CONCLUSIONS

Although not entirely specific, MYD88 L265P is a useful adjunct for bone marrow diagnosis in separating LPL from other small B-cell lymphomas and plasma cell myeloma.

摘要

目的

探讨 MYD88 L265P 体细胞突变在骨髓活检标本中识别淋巴浆细胞淋巴瘤（LPL）与其他淋巴浆细胞肿瘤的作用。

方法

我们研究了 64 例骨髓活检标本，这些标本涉及各种小 B 细胞淋巴瘤或浆细胞骨髓瘤。

结果

MYD88 L265P 体细胞突变存在于 13/13 例 LPL、1/13 例毛细胞白血病中，而在其他检测的成熟 B 细胞肿瘤中不存在。选择一组具有淋巴浆细胞形态的具有诊断挑战性的骨髓病例（B 细胞淋巴瘤，其他特指型）进行进一步回顾和重新分类，而不了解 MYD88 L265P 状态。在这 16 例中，有 7 例 MYD88 阳性，包括 4/4 例在回顾中重新分类为 LPL。