Waldenstrom巨球蛋白血症的主要罕见表现为骨骼受累:一项基于全国人群的队列研究的病例报告和患病率。

IF 1.3 Q4 HEMATOLOGY
Khazra Bhatti, Aqsa Nazir, Simon Ostergaard, Lone Schejbel, Peter Norgaard, Lise M R Gjerdrum, Mahnaz Moghaddas, Torsten H Nielsen, Lars Munksgaard, Lars M Pedersen
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引用次数: 0

摘要

在恶性淋巴细胞增生性疾病患者中,骨受累是一种罕见的结外表现,也被认为是Waldenstrom巨球蛋白血症(WM)患者的罕见事件。然而,实际的流行率以前没有报道过。我们描述了一个不寻常的病例患者WM谁提出了腰痛和局灶性骨病变在最初的诊断。磁共振成像(MRI)显示多处椎体骨折。正电子发射断层扫描(PET)只能检测到淋巴结变化,而不能检测到病理骨骼相关的代谢活动。淋巴结和骨髓活检结合免疫球蛋白M (IgM) M成分显示WM的诊断。新一代测序(NGS)分析使用淋巴样肿瘤中59个复发突变基因的靶向淋巴瘤面板显示MYD88和CD79B基因突变。经利妥昔单抗和苯达莫司汀治疗后,患者获得部分缓解和疼痛缓解。病情稳定3年后,在股骨颈底部发生自发性股骨头下骨折和新的椎体压缩性骨折。全身低剂量计算机断层扫描(WB-LDCT)和骨密度(双能x线吸收仪(DEXA))扫描显示明显的骨质减少。植入髋关节假体后,检查切除的髋关节显示克隆性淋巴浆细胞浸润。我们的病例证实,我们必须意识到骨累及患者的WM可以发生作为一个罕见的表现。有趣的是,弥漫性大b细胞淋巴瘤的MYD88/ cd79b突变(MCD)基因型以结外受累为特征,也可能参与本病例中骨骼相关疾病的发病机制。作为对这一不寻常病例的随访,我们基于丹麦淋巴瘤登记处(LYFO)对2000 - 2020年期间全国人口进行了分析。该注册研究包括2459例WM和淋巴浆细胞性淋巴瘤患者。我们的数据显示,1.75%的成年WM患者在诊断时发生原发性骨受累。据我们所知,这是第一份关于骨骼相关疾病在全国范围内流行的报告,并将骨骼受累定义为WM中极其罕见的事件。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Bone Involvement as a Primary Rare Manifestation of Waldenstrom Macroglobulinemia: A Case Report and Prevalence in a Nationwide Population-Based Cohort Study.

Bone Involvement as a Primary Rare Manifestation of Waldenstrom Macroglobulinemia: A Case Report and Prevalence in a Nationwide Population-Based Cohort Study.

Bone Involvement as a Primary Rare Manifestation of Waldenstrom Macroglobulinemia: A Case Report and Prevalence in a Nationwide Population-Based Cohort Study.

Bone involvement is a rare extranodal manifestation in patients with malignant lymphoproliferative diseases and has also been noted as a rare event in patients with Waldenstrom macroglobulinemia (WM). However, the actual prevalence has not been previously reported. We describe an unusual case of a patient with WM who presented with lower back pain and focal bone lesions at initial diagnosis. Magnetic resonance imaging (MRI) revealed multiple vertebral fractures. Positron emission tomography (PET) detected only nodal changes without pathological skeletal-related metabolic activity. Lymph node and bone marrow biopsies combined with an immunoglobulin M (IgM) M component revealed the diagnosis of WM. A next-generation sequencing (NGS) analysis using a targeted lymphoma panel of 59 recurrently mutated genes in lymphoid neoplasms showed mutations in the MYD88 and CD79B genes. After treatment with rituximab and bendamustine, the patient achieved a partial remission and pain relief. After 3 years of stable disease, a spontaneous subcapital fracture at the base of the femoral neck and new vertebral compression fractures occurred. Whole-body low-dose computed tomography (WB-LDCT) and bone density (dual energy X-ray absorptiometry (DEXA)) scan revealed marked osteopenia. After insertion of a hip prosthesis, examination of the removed hip showed infiltration of clonal lymphoplasmacytic cells. Our case confirms that one must be aware that bone involvement in patients with WM can occur as a rare manifestation. Interestingly, the MYD88/CD79B-mutated (MCD) genotype in diffuse large B-cell lymphoma is characterized by extranodal involvement and may also be involved in the pathogenesis of skeletal-related disease in the present case. As a follow-up to this unusual case, we have carried out an analysis based on the Danish Lymphoma Registry (LYFO) covering the entire national population in the period 2000 - 2020. The registry study included a cohort of 2,459 patients with WM and lymphoplasmacytic lymphoma. Our data revealed that primary bone involvement at diagnosis occurs in 1.75% of adults with WM. To the best of our knowledge, this is the first report of the prevalence of skeletal-related disease in a large nationwide cohort and defines bone involvement as an exceedingly rare event in WM.

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Journal of hematology
Journal of hematology HEMATOLOGY-
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