A Case of a Lymphoplasmacytic Lymphoma with Trisomy 12 in the Lymphoid Population and Deletion 13q in the Unstimulated Cell Culture.

Andrew Reyes, Vincent Tse, Grace Yang, Emily Peng, Karen Cunnien, Katherine Lapp, Carlos A Tirado
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Abstract

Objectives: Lymphoplasmacytic lymphoma (LPL, previously termed lymphoplasmacytoid lymphoma) is an uncommon mature B-cell lymphoma usually involving the bone marrow and less commonly the spleen and/or lymph nodes. The majority of patients with LPL have a circulating monoclonal immunoglobulin M (IgM) that can lead to a hyperviscosity syndrome known as Waldenström macroglobulinemia (WM). Although LPL appears to be a sporadic disease in the majority of cases, a familial predisposition is present in some cases. The main chromosomal abnormalities are trisomy 12, trisomy 3, isochromosome 6p, and 14q rearrangements involving IgH among complex karyotypes. Herein, we present an 89-year-old male patient who presents with LPL involving 80% of the marrow cellularity with circulating lymphoma cells. Chromosomal analysis detected two unrelated abnormal clonal populations: one clone has trisomy 12 as the sole abnormality in the stimulated culture, while the other clone has a 13q deletion as the sole abnormality in the cells from the non-stimulated culture. Trisomy 12 is one of the most common abnormalities in B-CLL and it is associated with an intermediate prognosis. Deletions 13q have been identified in B-cell malignancies, non-Hodgkin's lymphomas (NHL), as well as myelodysplastic syndromes and chronic myeloproliferative neoplasms (Heim and Mitelman, 2015). Trisomy 12/13q- FISH slide was reviewed looking at the segmented cells. Fifty segmented cells were scored and a 13q- pattern was detected in 36% (18/50) of the cells suggesting that this finding (the 13q- clone) may be myeloid in origin. Clinicopathologic correlation of these results was recommended.

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淋巴细胞群中淋巴浆细胞性淋巴瘤伴12三体,无刺激细胞培养中缺失13q 1例。
目的:淋巴浆细胞性淋巴瘤(LPL,以前称为淋巴浆细胞样淋巴瘤)是一种罕见的成熟b细胞淋巴瘤,通常累及骨髓,较少累及脾脏和/或淋巴结。大多数LPL患者有循环单克隆免疫球蛋白M (IgM),可导致称为Waldenström巨球蛋白血症(WM)的高粘度综合征。虽然LPL在大多数情况下似乎是一种散发的疾病,但在某些情况下存在家族易感性。主要的染色体异常是12三体、3三体、6p同染色体和复杂核型中涉及IgH的14q重排。在此,我们报告了一位89岁的男性患者,他表现为LPL,涉及80%的骨髓细胞并循环淋巴瘤细胞。染色体分析检测到两个不相关的异常克隆群体:一个克隆在刺激培养中有12三体作为唯一的异常,而另一个克隆在非刺激培养的细胞中有13q缺失作为唯一的异常。12三体是B-CLL中最常见的异常之一,它与中间预后相关。已经在b细胞恶性肿瘤、非霍奇金淋巴瘤(NHL)以及骨髓增生异常综合征和慢性骨髓增生性肿瘤中发现了13q缺失(Heim和Mitelman, 2015)。回顾12/13q三体- FISH切片,观察分节细胞。对50个分节细胞进行评分,在36%(18/50)的细胞中检测到13q-模式,这表明这一发现(13q-克隆)可能起源于髓系。推荐这些结果的临床病理相关性。
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