Pleural Mucosa-associated Lymphoid Tissue Lymphoma with Trisomy 18

Okamoto, Natsumi; Hayashi, Eiichi; Tsukino, Mitsuhiro

doi:10.2169/internalmedicine.1780-18

Cited by 3 publications

(2 citation statements)

References 2 publications

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“…Trisomy 18 has been previously described in non-Hodgkin lymphomas, such as extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma), follicular lymphoma, diffuse large B-cell lymphoma, and peripheral T-cell lymphoma [ 42 , 43 , 44 , 45 ]. Chromosome 18 includes the gene MALT1 , which encodes a caspase-like protease that plays a role in BCL10 -induced activation of the NF-κB pathway [ 46 ] and thus, the overexpression of MALT1 as seen in trisomy 18 has been associated with lymphoma progression. Similarly, the only iMCD case with a cytogenetic abnormality harbored a somatic translocation 46,XY,t(7;14)(p22;q22) in lymph node tissue at the interleukin 6 (IL-6) locus (7p21–22).…”

Section: Discussionmentioning

confidence: 99%

A Review of Genetic Abnormalities in Unicentric and Multicentric Castleman Disease

Butzmann

Kumar

Sridhar

et al. 2021

Biology

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Castleman disease (CD) is a rare lymphoproliferative disorder known to represent at least four distinct clinicopathologic subtypes. Large advancements in our clinical and histopathologic description of these diverse diseases have been made, resulting in subtyping based on number of enlarged lymph nodes (unicentric versus multicentric), according to viral infection by human herpes virus 8 (HHV-8) and human immunodeficiency virus (HIV), and with relation to clonal plasma cells (POEMS). In recent years, significant molecular and genetic abnormalities associated with CD have been described. However, we continue to lack a foundational understanding of the biological mechanisms driving this disease process. Here, we review all cases of CD with molecular abnormalities described in the literature to date, and correlate cytogenetic, molecular, and genetic abnormalities with disease subtypes and phenotypes. Our review notes complex karyotypes in subsets of cases, specific mutations in PDGFRB N666S in 10% of unicentric CD (UCD) and NCOA4 L261F in 23% of idiopathic multicentric CD (iMCD) cases. Genes affecting chromatin organization and abnormalities in methylation are seen more commonly in iMCD while abnormalities within the mitogen-activated protein kinase (MAPK) and interleukin signaling pathways are more frequent in UCD. Interestingly, there is a paucity of genetic studies evaluating HHV-8 positive multicentric CD (HHV-8+ MCD) and POEMS-associated CD. Our comprehensive review of genetic and molecular abnormalities in CD identifies subtype-specific and novel pathways which may allow for more targeted treatment options and unique biologic therapies.

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Section: Discussionmentioning

confidence: 99%

A Review of Genetic Abnormalities in Unicentric and Multicentric Castleman Disease

Butzmann

Kumar

Sridhar

et al. 2021

Biology

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“…Nakamura et al reported that the presence of extra copies of MALT1 was significantly associated with the progression or relapse of gastric MZBCL ( 26 ). Thus, trisomy 18 can lead to the overexpression of MALT1 and contribute to the activation of NF-κB, which may play a crucial role in the pathogenesis of MZBCL ( 21 , 25 ). With regard to DLBCL, Sugimoto et al detected three BCL2 and MALT1 signals using interphase FISH in a case of DLBCL of the uterus ( 27 ).…”

Section: Discussionmentioning

confidence: 99%

Biclonal Diffuse Large B-cell Lymphoma Commonly Characterized by Partial Trisomy 18q Involving <i>MALT1</i> and <i>BCL2</i>

et al. 2023

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A 68-year-old man was admitted because of a left shoulder mass and swollen right testis. Pathological examinations indicated a diagnosis of diffuse large B-cell lymphoma (DLBCL) with the CD20+BCL6+MUM1+ BCL2+CD10-MYC-phenotype in both lesions. G-banding of soft tissue showed 47,XY,+18, whereas testicular cells showed 47,X,+X,-Y,der(4)t(4;18)(p15;?),del(5)(q?),+13. Fluorescence in situ hybridization detected additional MALT1 and BCL2 signals in both lesions. Southern blot demonstrated different IGH rearrangements between the soft tissue and testis. The patient was diagnosed with biclonal DLBCL with different karyotypes but similar immunophenotypes. Partial trisomy 18q involving MALT1 and BCL2 may be commonly involved in the pathogenesis of this biclonal DLBCL.

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Misdiagnosis of primary mucosa-associated lymphoid tissue lymphoma of the pleura: case report and literature review

Wang¹,

Peng²,

Jiang³

et al. 2022

Transl Cancer Res TCR

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Background: Mucosa-associated lymphoid tissue (MALT) lymphoma is an indolent B cell lymphoma.Its occurrence in the pleura is rare, with atypical clinical manifestations. MALT of the pleura is easily misdiagnosed. This is the first case report of pleural MALT lymphoma in China.Case Description: We report the case of a 54-year-old Chinese man with no notable medical history who complained of cough, sputum, and shortness of breath for 3 months. He had a positive purified protein derivative (PPD) test. An initial misdiagnosis of pleural tuberculosis was corrected, after 3 thoracoscopic biopsies and tests, to primary pleural MALT lymphoma. He received treatments of R-CHOP (rituximab, cyclophosphamide, epirubicin, vindesine and prednisolone) and traditional Chinese medicine. The patient was followed for 3 years until June 2022, with no obvious respiratory symptoms. Pleural MALT lymphoma is extremely rare, with only a few cases reported. This article describes our case, and includes an overview of 15 previously reported cases to summarize the characteristics, treatments, and prognosis of primary pleural MALT lymphoma.Conclusions: Pleural MALT lymphoma is rare, and a correct diagnosis depends on tissue biopsy, immunohistochemical staining, and detection of gene rearrangement. Thoracoscopy is important to diagnose this disease. Multiple thoracoscopic biopsies may be necessary.

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Pleural Mucosa-associated Lymphoid Tissue Lymphoma with Trisomy 18

Cited by 3 publications

References 2 publications

A Review of Genetic Abnormalities in Unicentric and Multicentric Castleman Disease

A Review of Genetic Abnormalities in Unicentric and Multicentric Castleman Disease

Biclonal Diffuse Large B-cell Lymphoma Commonly Characterized by Partial Trisomy 18q Involving <i>MALT1</i> and <i>BCL2</i>

Misdiagnosis of primary mucosa-associated lymphoid tissue lymphoma of the pleura: case report and literature review

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