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涉及IGH和FOXP1的T(3;14)(p14.1;q32)是黏膜相关淋巴组织淋巴瘤中一种新的复发性染色体畸变。

T(3;14)(p14.1;q32) involving IGH and FOXP1 is a novel recurrent chromosomal aberration in MALT lymphoma.

作者信息

Streubel B, Vinatzer U, Lamprecht A, Raderer M, Chott A

机构信息

Department of Pathology, Vienna General Hospital, Medical University of Vienna, Vienna, Austria.

出版信息

Leukemia. 2005 Apr;19(4):652-8. doi: 10.1038/sj.leu.2403644.


DOI:10.1038/sj.leu.2403644
PMID:15703784
Abstract

The three chromosomal translocations t(11;18)(q21;q21), t(14;18)(q32;q21), and t(1;14)(p22;q32) are associated with MALT lymphoma. In a case of MALT lymphoma of the thyroid, we observed t(3;14)(p14.1;q32) by cytogenetic analysis. Fluorescence in situ hybridization studies showed that the immunoglobulin heavy chain locus (IGH) was rearranged on chromosome 14. Long-distance inverse polymerase chain reaction identified FOXP1 as the partner gene on chromosome 3. To determine the frequency of the t(3;14)(p14.1;q32), two fluorescence in situ hybridization assays were established to screen 91 MALT lymphomas, all of which were negative for the above-mentioned three translocations, and eight splenic and six nodal marginal zone lymphomas. Overall, nine MALT lymphomas (10%) harbored t(3;14)(p14.1;q32) comprising tumors of the thyroid (three of six), ocular adnexa (four of 20), and skin (two of 20), whereas those of the stomach (n = 20), salivary gland (n = 20), and lung (n = 5) were negative as well as the splenic and nodal marginal zone lymphomas. Most t(3;14)(p14.1;q32) + MALT lymphomas harbored additional genetic abnormalities, such as trisomy 3. Further studies revealed that the three known translocations and t(3;14)(p14.1;q32) are mutually exclusive. Real-time quantitative reverse transcriptase polymerase chain reaction showed upregulation of FOXP1 in cases with t(3;14)(p14.1;q32) or trisomy 3. This study identifies FOXP1 as a new translocation partner of IGH in a site-dependent subset of MALT lymphomas.

摘要

三种染色体易位,即t(11;18)(q21;q21)、t(14;18)(q32;q21)和t(1;14)(p22;q32)与黏膜相关淋巴组织(MALT)淋巴瘤相关。在1例甲状腺MALT淋巴瘤中,我们通过细胞遗传学分析观察到t(3;14)(p14.1;q32)。荧光原位杂交研究显示免疫球蛋白重链基因座(IGH)在14号染色体上发生重排。长距离反向聚合酶链反应确定FOXP1为3号染色体上的伙伴基因。为了确定t(3;14)(p14.1;q32)的频率,建立了两种荧光原位杂交检测方法,用于筛查91例MALT淋巴瘤(所有这些病例均未出现上述三种易位)、8例脾边缘区淋巴瘤和6例结边缘区淋巴瘤。总体而言,9例MALT淋巴瘤(10%)存在t(3;14)(p14.1;q32),包括甲状腺肿瘤(6例中的3例)、眼附属器肿瘤(20例中的4例)和皮肤肿瘤(20例中的2例),而胃(n = 20)、唾液腺(n = 20)和肺(n = 5)的肿瘤以及脾和结边缘区淋巴瘤均为阴性。大多数t(3;14)(p14.1;q32)阳性的MALT淋巴瘤还存在其他基因异常,如3号染色体三体。进一步研究表明,三种已知的易位和t(3;14)(p14.1;q32)相互排斥。实时定量逆转录聚合酶链反应显示,在存在t(3;14)(p14.1;q32)或3号染色体三体的病例中FOXP1表达上调。本研究确定FOXP1是MALT淋巴瘤一个位点依赖性亚组中IGH的新易位伙伴。

相似文献

[1]
T(3;14)(p14.1;q32) involving IGH and FOXP1 is a novel recurrent chromosomal aberration in MALT lymphoma.

Leukemia. 2005-4

[2]
T(14;18)(q32;q21) involving IGH and MALT1 is a frequent chromosomal aberration in MALT lymphoma.

Blood. 2003-3-15

[3]
MALT lymphoma with t(14;18)(q32;q21)/IGH-MALT1 is characterized by strong cytoplasmic MALT1 and BCL10 expression.

J Pathol. 2005-2

[4]
t(14;18)(q32;q21) involving IGH and MALT1 is uncommon in cutaneous MALT lymphomas and primary cutaneous diffuse large B-cell lymphomas.

J Cutan Pathol. 2006-4

[5]
MALT1, BCL10 and FOXP1 in salivary gland mucosa-associated lymphoid tissue lymphomas.

Pathol Int. 2007-1

[6]
Mucosa-associated lymphoid tissue lymphoma: novel translocations including rearrangements of ODZ2, JMJD2C, and CNN3.

Clin Cancer Res. 2008-10-15

[7]
Translocations t(11;18)(q21;q21) and t(14;18)(q32;q21) are the main chromosomal abnormalities involving MLT/MALT1 in MALT lymphomas.

Leukemia. 2003-11

[8]
Primary cutaneous marginal zone B-cell lymphoma may exhibit both the t(14;18)(q32;q21) IGH/BCL2 and the t(14;18)(q32;q21) IGH/MALT1 translocation: an indicator for clonal transformation towards higher-grade B-cell lymphoma?

Am J Dermatopathol. 2007-6

[9]
The incidence and anatomic site specificity of chromosomal translocations in primary extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) in North America.

Am J Surg Pathol. 2006-12

[10]
FISH analysis of MALT lymphoma-specific translocations and aneuploidy in primary cutaneous marginal zone lymphoma.

J Pathol. 2005-2

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[3]
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[4]
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[5]
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World J Gastroenterol. 2023-8-28

[6]
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[7]
Effect of FOXP2 transcription factor on immune infiltration of thyroid cancer and its potential clinical value.

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[8]
Analysis of Genetic Alterations in Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma With Whole-Exome Sequencing.

Front Oncol. 2022-3-11

[9]
Rare central nervous system lymphomas.

Br J Haematol. 2022-6

[10]
The Biology of Ocular Adnexal Marginal Zone Lymphomas.

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