Asunto(s)
Leucemia Promielocítica Aguda/sangre , Células Madre Neoplásicas/patología , Proteínas de Fusión Oncogénica/genética , Femenino , Humanos , Inmunofenotipificación , Leucemia Promielocítica Aguda/genética , Leucemia Promielocítica Aguda/patología , Persona de Mediana Edad , Proteínas de Neoplasias/análisis , Peroxidasa/análisis , Tirosina Quinasa 3 Similar a fms/genéticaRESUMEN
STAT1 gain-of-function (GOF) mutations are associated with a rare autosomal dominant immunodeficiency disorder with main clinical manifestations including chronic mucocutaneous candidiasis (CMC) and bronchiectasis. In addition, these patients show higher incidences of cerebral and extracerebral aneurysm, malignancies and various autoimmune conditions compared to the general population. Although previous publications have reported clinical findings in patients with STAT1 GOF mutation, they did not include histopathologic features. Herein, we describe the first case with detailed histologic findings in the lung of a 5-year-old patient with a de novo STAT1 GOF mutation, who presented with CMC and bronchiectasis. The biopsy showed severe bronchiolectasis with extensive airway dilatation and occasional disruptions. Peribronchiolar inflammation was not always present and evident mainly in areas of airway disruption; inflammation may have not been a main driver of the airway damage in this case. The airway dilatation often showed an interesting herniating pattern, possibly implying a connective tissue etiology. This case also demonstrates the diagnostic utility of whole exome sequencing as STAT1 GOF mutations are not detected by routine workup. The definitive diagnosis will lead to more specific treatments and increased surveillance for serious conditions, such as cerebral aneurysms and malignancies.
Asunto(s)
Bronquiectasia/diagnóstico , Mutación con Ganancia de Función , Factor de Transcripción STAT1/genética , Bronquiectasia/complicaciones , Bronquiectasia/genética , Bronquiectasia/patología , Candidiasis Mucocutánea Crónica/complicaciones , Candidiasis Mucocutánea Crónica/diagnóstico , Candidiasis Mucocutánea Crónica/genética , Candidiasis Mucocutánea Crónica/patología , Preescolar , Femenino , Marcadores Genéticos , Humanos , Secuenciación del ExomaRESUMEN
INTRODUCTION: A congenital pulmonary airway malformation (CPAM) type III may become large enough to cause hydrops fetalis. In such circumstances, the fetus can be treated with open fetal resection, maternal betamethasone administration, or percutaneous sclerotherapy. CASE REPORT: A 24 week gestation fetus with a CPAM type III was treated by percutaneous sclerotherapy using ethanolamine oleate (EO). The EO inadvertently entered the left atrium and ventricle with subsequent fetal bradycardia and demise. Autopsy revealed myocardial necrosis. CONCLUSION: Percutaneous sclerotherapy has been previously described in the literature for the treatment of microcystic CPAMs with secondary hydrops. This is the first reported case of an adverse event after fetal sclerotherapy.