دورية أكاديمية
A Rare CD4−CD8+ Adult T-Cell Leukemia/Lymphoma with Unique Molecular Mutations: A Case Report with Literature Review
| العنوان: | A Rare CD4−CD8+ Adult T-Cell Leukemia/Lymphoma with Unique Molecular Mutations: A Case Report with Literature Review |
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| المؤلفون: | Jui Choudhuri, Leah Geiser Roberts, Yan Zhang, Yanhua Wang, Yanan Fang |
| المصدر: | Case Reports in Hematology, Vol 2020 (2020) |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| المجموعة: | LCC:Diseases of the blood and blood-forming organs |
| مصطلحات موضوعية: | Diseases of the blood and blood-forming organs, RC633-647.5 |
| الوصف: | Adult T-cell leukemia/lymphoma (ATLL) is a mature T-cell neoplasm caused by infection of the human T-cell lymphotropic virus type 1 (HTLV-1). Most ATLL cases are CD4-positive and CD8-negative. Though rare, there are a few dual negative (CD4−CD8−), dual positive (CD4+CD8+), and CD4−CD8+ cases reported in literature. ATLL is associated with HTLV-1 infection, but HTLV-1 alone cannot cause the malignant transformation of infected T cells. Additional genetic and/or epigenetic events are required for the development of the disease. Here, we report an unusual CD4−CD8+ATLL in a 76-year-old male with a unique molecular genetic profile. Molecular studies revealed alterations in 10 genes. Three of them are predicted to be pathogenic by the computational models, including the frameshift change in ZFHX4 and missense mutations in RHOA and POT1. The specific mutations of POT1 (c.281A > G; p.Q94R), RHOA (c.47G > A; p.C16Y), and ZFHX4 (c.2871delC; p.F958Sfs∗31) have never been previously reported in ATLL to the best of our knowledge. The clinical significance of other genetic alterations is unknown. Further research is warranted to correlate this patient’s molecular findings with other ATLL cases. Correlation specifically with other cases of CD8+ ATLL could prove to be useful in understanding the pathogenesis of this rare variant of an already rare form of leukemia/lymphoma. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2090-6560 2090-6579 |
| Relation: | https://doaj.org/toc/2090-6560; https://doaj.org/toc/2090-6579 |
| DOI: | 10.1155/2020/8890502 |
| URL الوصول: | https://doaj.org/article/4ef29ecc062248b5904ef171badf53cf |
| رقم الأكسشن: | edsdoj.4ef29ecc062248b5904ef171badf53cf |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20906560 20906579 |
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| DOI: | 10.1155/2020/8890502 |