RESUMO
Gonadal mosaicism has been reported in a variety of dominant or X-linked conditions and should be considered in all cases of apparent de-novo variation. Recently, some cases of supposed parental germline mosaicism have been shown to result from low-level somatic mosaicism. In most of the cases, mosaicism has been reported for pathogenic single nucleotide variants with only a few cases of copy number variation mosaicism described so far. Herein, we present the first case of parental somatic and gonadal copy number variation mosaicism in the SATB2 gene. We report three brothers presenting with the SATB2-associated syndrome. They all carry the same 121-kb heterozygous intragenic deletion of SATB2. Parental somatic mosaicism was detected by array-comparative genomic hybridization on a maternal blood sample and confirmed by Fluorescence in situ hybridization analysis on blood and buccal cells. This clinical report highlights the importance of investigating for parental somatic mosaicism to estimate the proper recurrence risk for subsequent pregnancy.
Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Proteínas de Ligação à Região de Interação com a Matriz/genética , Fatores de Transcrição/genética , Hibridização Genômica Comparativa , Variações do Número de Cópias de DNA , Fácies , Feminino , Estudos de Associação Genética/métodos , Humanos , Hibridização in Situ Fluorescente , Masculino , Mosaicismo , Linhagem , Fenótipo , Reação em Cadeia da Polimerase em Tempo Real , SíndromeRESUMO
Discrimination between lymphoid blast crisis of chronic myeloid leukemia (CML) and de novo BCR-ABL1 positive acute lymphoblastic leukemia (ALL) represents a diagnostic challenge because this distinction has a major incidence on the management of patients. Here, we report an uncommon pediatric case of ALL with cryptic ins(22;9)(q11;q34q34) and p190-type BCR-ABL1 transcript. We performed interphase fluorescence in situ hybridization (FISH) for BCR-ABL1 rearrangement on blood neutrophils, which was positive consistent with the diagnosis of lymphoid blast crisis of CML. This case illustrates the major interest of interphase FISH for BCR-ABL1 rearrangement on blood neutrophils as a decisive method to discriminate a lymphoid blast crisis of CML from a de novo BCR-ABL1 positive ALL.
Assuntos
Crise Blástica/diagnóstico , Hibridização in Situ Fluorescente/métodos , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Neutrófilos/metabolismo , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Criança , Humanos , Interfase , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologiaAssuntos
Antígenos CD19/imunologia , Antígenos de Neoplasias/imunologia , Cromossomos Humanos Par 11/ultraestrutura , Cromossomos Humanos Par 4/ultraestrutura , Evolução Clonal , Leucemia Monocítica Aguda/patologia , Terapia de Alvo Molecular , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Translocação Genética , Adolescente , Anticorpos Biespecíficos/uso terapêutico , Antineoplásicos Imunológicos/uso terapêutico , Linhagem da Célula , Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 4/genética , Humanos , Leucemia Monocítica Aguda/genética , Masculino , Células-Tronco Neoplásicas/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genéticaRESUMO
Laccases (EC 1.10.3.2) are phenoloxidases involved in the transformation of the recalcitrant fraction of organic matter in soil. These enzymes are also able to transform certain aromatic pollutants such as polycyclic aromatic hydrocarbons (PAHs) and are known to be inhibited by chloride ions. This study aims to test the potential of some fungal strains newly isolated from natural environments subjected to high osmotic pressure such as coastal ecosystems, to produce chloride tolerant laccases. Three strains were identified as Chaetomium sp., Xylogone sphaerospora (two Ascomycota), and Coprinopsis sp. (a Basidiomycota) and the laccases produced by these fungi were weakly inhibited by chloride ions compared with previous data from literature. Moreover, we tested their reactivity towards various PAHs which are widespread anthropic pollutants. They were able to transform anthracene to 9,10-anthraquinone and we determine 7.5 eV as the threshold of ionization potential for PAH oxidation by these laccases.
