Primary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement: a case report and literature review

Abstract Background We present a unique case of primary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement in a young Chinese female patient. Case presentation The patient presented with a mass in her right breast that rapidly increased in size over approximately 2 months. U...

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Autores principales:	Ying Zhang, Kuansong Wang, Qian Tan, Keda Yang, Dengshu Wu, Yajing Xu, Xielan Zhao, Zhiping Jiang
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Extranodal NK/T cell lymphoma CD20 expression Primary breast lymphoma Case report NGS Pathology RB1-214
Acceso en línea:	https://doaj.org/article/57d7b930ab7545178b809806809e7b51
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spelling	oai:doaj.org-article:57d7b930ab7545178b809806809e7b512021-11-14T12:37:45ZPrimary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement: a case report and literature review10.1186/s13000-021-01166-41746-1596https://doaj.org/article/57d7b930ab7545178b809806809e7b512021-11-01T00:00:00Zhttps://doi.org/10.1186/s13000-021-01166-4https://doaj.org/toc/1746-1596Abstract Background We present a unique case of primary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement in a young Chinese female patient. Case presentation The patient presented with a mass in her right breast that rapidly increased in size over approximately 2 months. Upper gastrointestinal endoscopy showed a giant serpentine ulcer in the stomach. Biopsy was performed, and microscopic inspection revealed that the fibrous tissue was diffusely involved by medium to large abnormal lymphocytes. The cytoplasm was low to moderate. The tumor cells had irregular nuclei and inconspicuous nucleoli. The lymphoid cells were strongly immunoreactive to CD20, CD3, CD4, CD56, TIA-1, EBER, and Ki-67 (90%). Epstein-Barr virus genomes were also found in tumor cells by in situ hybridization. A whole-body positron emission tomography (PET)-CT scan revealed intense FDG uptake in the right breast and greater curvature of the stomach. Monoclonal rearrangements of the T cell receptor (TCR-γ) and immunoglobulin heavy chain (IgH) were identified by genetic analysis. Whole-genome next-generation sequencing was performed, and up to 12 gene mutations, including a frameshift mutation in exon 4 of the BCOR (G97Rfs*87; 44.3%) gene and a base substitution mutation (Q61H 17.6%) in exon 3 of the KRAS gene, were detected. Kyoto Encyclopedia of Genes and Genomes pathway analyses were performed using the database for annotation, visualization, and integrated discovery, which showed that rare primary breast CD20-positive extranodal NK/T cell lymphoma had a unique genetic background compared with diffuse large B cell lymphoma and extranodal NK/T cell lymphoma without CD20 expression. The patient received four cycles of the modified SMILE regimen. The second whole-body PET-CT scan revealed that the right breast mass was significantly smaller than before; additionally, FDG uptake in the stomach wall disappeared. Conclusions Systemic examination, extensive immunohistochemistry, and molecular profiling are essential for an accurate diagnosis. More similar cases are required to clarify the biological pathways and even the potential molecular mechanisms of rare lymphomas, which may help direct further treatment.Ying ZhangKuansong WangQian TanKeda YangDengshu WuYajing XuXielan ZhaoZhiping JiangBMCarticleExtranodal NK/T cell lymphomaCD20 expressionPrimary breast lymphomaCase reportNGSPathologyRB1-214ENDiagnostic Pathology, Vol 16, Iss 1, Pp 1-11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Extranodal NK/T cell lymphoma CD20 expression Primary breast lymphoma Case report NGS Pathology RB1-214
spellingShingle	Extranodal NK/T cell lymphoma CD20 expression Primary breast lymphoma Case report NGS Pathology RB1-214 Ying Zhang Kuansong Wang Qian Tan Keda Yang Dengshu Wu Yajing Xu Xielan Zhao Zhiping Jiang Primary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement: a case report and literature review
description	Abstract Background We present a unique case of primary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement in a young Chinese female patient. Case presentation The patient presented with a mass in her right breast that rapidly increased in size over approximately 2 months. Upper gastrointestinal endoscopy showed a giant serpentine ulcer in the stomach. Biopsy was performed, and microscopic inspection revealed that the fibrous tissue was diffusely involved by medium to large abnormal lymphocytes. The cytoplasm was low to moderate. The tumor cells had irregular nuclei and inconspicuous nucleoli. The lymphoid cells were strongly immunoreactive to CD20, CD3, CD4, CD56, TIA-1, EBER, and Ki-67 (90%). Epstein-Barr virus genomes were also found in tumor cells by in situ hybridization. A whole-body positron emission tomography (PET)-CT scan revealed intense FDG uptake in the right breast and greater curvature of the stomach. Monoclonal rearrangements of the T cell receptor (TCR-γ) and immunoglobulin heavy chain (IgH) were identified by genetic analysis. Whole-genome next-generation sequencing was performed, and up to 12 gene mutations, including a frameshift mutation in exon 4 of the BCOR (G97Rfs*87; 44.3%) gene and a base substitution mutation (Q61H 17.6%) in exon 3 of the KRAS gene, were detected. Kyoto Encyclopedia of Genes and Genomes pathway analyses were performed using the database for annotation, visualization, and integrated discovery, which showed that rare primary breast CD20-positive extranodal NK/T cell lymphoma had a unique genetic background compared with diffuse large B cell lymphoma and extranodal NK/T cell lymphoma without CD20 expression. The patient received four cycles of the modified SMILE regimen. The second whole-body PET-CT scan revealed that the right breast mass was significantly smaller than before; additionally, FDG uptake in the stomach wall disappeared. Conclusions Systemic examination, extensive immunohistochemistry, and molecular profiling are essential for an accurate diagnosis. More similar cases are required to clarify the biological pathways and even the potential molecular mechanisms of rare lymphomas, which may help direct further treatment.
format	article
author	Ying Zhang Kuansong Wang Qian Tan Keda Yang Dengshu Wu Yajing Xu Xielan Zhao Zhiping Jiang
author_facet	Ying Zhang Kuansong Wang Qian Tan Keda Yang Dengshu Wu Yajing Xu Xielan Zhao Zhiping Jiang
author_sort	Ying Zhang
title	Primary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement: a case report and literature review
title_short	Primary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement: a case report and literature review
title_full	Primary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement: a case report and literature review
title_fullStr	Primary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement: a case report and literature review
title_full_unstemmed	Primary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement: a case report and literature review
title_sort	primary breast cd20-positive extranodal nk/t cell lymphoma with stomach involvement: a case report and literature review
publisher	BMC
publishDate	2021
url	https://doaj.org/article/57d7b930ab7545178b809806809e7b51
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Primary breast CD20-positive extranodal NK/T cell lymphoma with stomach involvement: a case report and literature review

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