تقرير
The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis.
| العنوان: | The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis. |
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| المؤلفون: | Domingues GAB; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Kizys MML; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Janovsky CCPS; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil., de Barros Maciel RM; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Dias-da-Silva MR; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Martins JRM; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil., Camacho CP; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil.; Laboratório de Inovação Molecular e Biotecnologia, Divisão de Pós-Graduação Médica, Universidade Nove de Julho, São Paulo, SP, Brasil., Cunha LL; Laboratório de Endocrinologia Molecular e Translacional, Divisão de Endocrinologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil, lucas.leite@unifesp.br. |
| المصدر: | Archives of endocrinology and metabolism [Arch Endocrinol Metab] 2022 Mar 08; Vol. 66 (1), pp. 112-117. |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Segmento Farma Editores Country of Publication: Brazil NLM ID: 101652058 Publication Model: Print Cited Medium: Internet ISSN: 2359-4292 (Electronic) Linking ISSN: 23593997 NLM ISO Abbreviation: Arch Endocrinol Metab Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: São Paulo, SP : Segmento Farma Editores |
| مواضيع طبية MeSH: | Adenomatous Polyposis Coli*/diagnosis , Adenomatous Polyposis Coli*/genetics , Adenomatous Polyposis Coli*/pathology , Thyroid Neoplasms*/pathology, Female ; Genetic Background ; Humans ; Thyroid Cancer, Papillary/genetics |
| مستخلص: | Thyroid cancer is the most common endocrine malignancy, and papillary thyroid carcinoma (PTC) is the main subtype. The cribriform morular variant is a histological phenotype of PTC characterized by its relationship with familial adenomatous polyposis (FAP). Description of the case: We report the genetic assessment of a 20-year-old female patient diagnosed with a cribriform-morular variant of PTC and FAP. We aimed to assess the genetic background of the reported patient, looking for variants that would help us explain the predisposition to tumorigenesis. Genomic DNA was extracted from peripheral blood lymphocytes, and whole exome sequencing was performed. We applied an overrepresentation and gene-set enrichment analysis to look for an accumulation of effects of variants in multiple genes at the genome. We found an overrepresentation of single nucleotide variants (SNVs) in extracellular matrix interactions and cell adhesion genes. Underrepresentation of SNVs in genes related to the regulation of autophagy and cell cycle control was also observed. We hypothesize that the package of alterations of our patient may help to explain why she presented colonic manifestations and thyroid cancer. Our findings suggest that multiple variants with minor impact, when considered together, may be helpful to characterize one particular clinical condition. |
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| تواريخ الأحداث: | Date Created: 20220309 Date Completed: 20220311 Latest Revision: 20230315 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC9991026 |
| DOI: | 10.20945/2359-3997000000439 |
| PMID: | 35263052 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2359-4292 |
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| DOI: | 10.20945/2359-3997000000439 |