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1.
Langenbecks Arch Surg ; 400(2): 129-43, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25701352

RESUMO

BACKGROUND: Colorectal cancer (CRC) is the third most common cancer diagnosed worldwide and continues to be a major healthcare concern. Molecular heterogeneity of CRC is believed to be one of the main factors responsible for the considerable variability in treatment response. With the recent development of powerful genomic technologies, novel insights in tumor biology of CRC have now been provided, facilitating the recognition of new molecular subtypes with prognostic and predictive implications. PURPOSE: The purpose of this review article is to summarize current knowledge about genomic, epigenomic, and proteomic characteristics of CRC, as well as their implications for biomarker identification and individualized targeted therapy. CONCLUSION: Supplementing the findings from several previous studies, the Cancer Genome Atlas (TCGA) project recently finalized the systematic characterization of CRC resulting in the first tumor dataset with complete molecular measurements at DNA, RNA, and protein levels. The challenge now is to translate these findings into a robust and reproducible CRC classification system linking molecular features of the tumor to precision medicine.


Assuntos
Inibidores da Angiogênese/administração & dosagem , Neoplasias Colorretais/terapia , Regulação Neoplásica da Expressão Gênica/efeitos dos fármacos , Terapia de Alvo Molecular/tendências , Medicina de Precisão/tendências , Anticorpos Monoclonais Humanizados/administração & dosagem , Antineoplásicos/administração & dosagem , Biomarcadores Tumorais/metabolismo , Ensaios Clínicos Fase II como Assunto , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Feminino , Previsões , Humanos , Incidência , Masculino , Terapia de Alvo Molecular/normas , Medicina de Precisão/métodos , Prognóstico , Proteômica , Resultado do Tratamento
2.
Ann Hematol ; 91(7): 1115-20, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22476886

RESUMO

Telomere length (TL) both reflects and limits the replicative life span of normal somatic cells. As a consequence, critically shortened telomeres are associated with a variety of disease states. Telomere attrition can be counteracted by a nucleoprotein complex containing telomerase. Mutations in subunits of telomerase, telomerase-binding proteins as well as in members of the shelterin complex have been described both in inherited and acquired bone marrow failure syndromes. Here, we report on a patient with acquired aplastic anemia and a nonsynonymous variation of codon 1062 of the hTERT gene (p.Ala1062Thr) whose substantial and maintained hematologic response to long-term androgen treatment (including complete transfusion independence) was paralleled by a significant and continued increase in TL in multilineage peripheral blood cells. To our knowledge, this represents the first case of sustained telomere elongation in hematopoietic stem cells induced by a pharmacological approach in vivo (141 words).


Assuntos
Androgênios/uso terapêutico , Anemia Aplástica/tratamento farmacológico , Telomerase/genética , Telômero/metabolismo , Anemia Aplástica/diagnóstico , Anemia Aplástica/genética , Anemia Aplástica/metabolismo , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Resultado do Tratamento
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