دورية أكاديمية
A Complex Karyotype in a 68-Year-Old Patient With T-PLL.
| العنوان: | A Complex Karyotype in a 68-Year-Old Patient With T-PLL. |
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| المؤلفون: | Yang GE; The International Circle of Genetics Studies, Los Angeles, CA.; University of California, Los Angeles, Los Angeles, CA., Bottomley S; The International Circle of Genetics Studies, Los Angeles, CA.; University of California, Los Angeles, Los Angeles, CA., King J; Baylor Scott and White Health, Department of Pathology, Temple, TX., Koss W; Baylor Scott and White Health, Department of Pathology, Temple, TX., Lin Y; The International Circle of Genetics Studies, Los Angeles, CA.; University of California, Los Angeles, Los Angeles, CA., Yeh W; The International Circle of Genetics Studies, Los Angeles, CA.; University of California, Los Angeles, Los Angeles, CA., Tirado CA; The International Circle of Genetic Studies, Los Angeles, CA.; Baylor Scott and White Health System, Department of Pathology, Temple, TX. |
| المصدر: | Journal of the Association of Genetic Technologists [J Assoc Genet Technol] 2021; Vol. 47 (1), pp. 16-23. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Association of Genetic Technologists Country of Publication: United States NLM ID: 9807282 Publication Model: Print Cited Medium: Print ISSN: 1523-7834 (Print) Linking ISSN: 15237834 NLM ISO Abbreviation: J Assoc Genet Technol Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Publication: Mahopac, NY : Association of Genetic Technologists Original Publication: Mahopac, N.Y. : The Association, |
| مستخلص: | Objectives: T-cell prolymphocytic leukemia, or T-PLL, is an extremely rare and highly metastatic neoplasm characterized by proliferating mature T-cells and genetic aberrations that often involve chromosome 14. While T-PLL is commonly accompanied by a complex karyotype, there is little analysis on such cases in existing literature and thorough discussions of the less "characteristic" cytogenetic mutations are particularly lacking. We present a case study of a 68-year-old male T-PLL patient with marked leukocytosis and a history of T-cell lymphoproliferative disorder. Chromosomal analysis revealed a complex karyotype that included a translocation of both copies of chromosome 14, rearrangements on 9p and 5p, isochromosome 8, deletion 11q, and monosomy 17. Molecular cytogenetic analysis indicated a rearrangement of TRD (14q11.2), loss of the ATM and CDKN2A signals, and gains of the RELN, TES and MYC signals. Many of these mutations have strongly corresponded to poor prognoses in patients with T-PLL and other leukemias, especially when appearing concurrently. However, there are still profound knowledge gaps in our understanding of many genetic aberrations and the significance of marker chromosomes in the context of T-PLL. Considering the lack of consensus on the improvement of patient outcomes in the past two decades as well as the frequency of a complex karyotype in T-PLL, this case study highlights the critical need of continued research efforts in profiling complex cases to provide potential avenues for novel therapeutic targets for T-PLL patients. (Copyright© by the Association of Genetic Technologists.) |
| تواريخ الأحداث: | Date Created: 20210308 Latest Revision: 20210310 |
| رمز التحديث: | 20231215 |
| PMID: | 33684910 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1523-7834 |
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