RESUMO
Genomic imprinting is characterized by the parent-of-origin monoallelic expression of several diploid genes because of epigenetic regulation. Imprinted genes (IGs) are key factors in development, supporting the ability of a genotype to produce phenotypes in response to environmental stimuli. IGs are highly expressed during prenatal stages but are downregulated after birth. They also affect aspects of life other than growth such as cognition, behavior, adaption to novel environments, social dominance and memory consolidation. Deregulated genomic imprinting leads to developmental disorders and is associated with solid and blood cancer as well. Several data have been published highlighting the involvement of IGs in as early as the very small embryonic-like stem cells stage and further during myeloid lineage commitment in normal and malignant hematopoiesis. Therefore, we have assembled the current knowledge on the topic, based mainly on recent findings, trying not to focus on a particular cluster but rather to have a global view of several different IGs in hematopoiesis.
Assuntos
Metilação de DNA , Expressão Gênica , Impressão Genômica/genética , Neoplasias Hematológicas/genética , Hematopoese/fisiologia , Células Mieloides/citologia , Animais , Linhagem da Célula , Epigênese Genética , Humanos , Células Mieloides/metabolismo , FenótipoRESUMO
Thalassemia represents the world's most common monogenic disease, characterized by absence of or decreased globin chain production. The lifespan of thalassemia patients has been extended as a result of current supportive treatment. We report three cases of cancer (non-Hodgkin lymphoma, Hodgkin disease, and seminoma) in thalassemic patients. Factors that may contribute to the pathogenesis of cancer seem to be infections and iron overload through mechanisms of oxidative damage; immunomodulation or coexistence of the two diseases may only be coincidental.
Assuntos
Neoplasias/complicações , Talassemia beta/complicações , Talassemia beta/fisiopatologia , Adulto , Feminino , Doença de Hodgkin/complicações , Doença de Hodgkin/diagnóstico , Doença de Hodgkin/terapia , Humanos , Linfoma não Hodgkin/complicações , Linfoma não Hodgkin/diagnóstico , Linfoma não Hodgkin/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Radioterapia Adjuvante , Seminoma/complicações , Seminoma/diagnóstico , Seminoma/terapia , Neoplasias Testiculares/complicações , Neoplasias Testiculares/diagnóstico , Neoplasias Testiculares/terapia , Talassemia beta/diagnóstico , Talassemia beta/terapiaAssuntos
Metilação de DNA , Leucemia Mieloide Aguda/genética , Síndromes Mielodisplásicas/genética , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Sequência de Bases , Ilhas de CpG , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Regiões Promotoras GenéticasRESUMO
Growth factors are a significant advance in the supportive care of patients with cancer with a wide range of indications. Frequent side effects of G-CSF include bone pain, headache, fatigue and nausea. We report a case of subcapsular splenic haematoma following pegfilgrastim administration in a 65-year old patient with multiple myeloma. Proposed mechanisms accounting for splenic enlargement include extramedullary haemopoiesis, intrasplenic infiltration by mature and immature myeloid cells and intrasplenic stem cell homing and proliferation. The risk of spontaneous splenic rupture is difficult to quantify. Physicians should be aware of this life-threatening condition and early diagnosis can be difficult since anemia and splenomegaly are common findings in haematologic patients.