RESUMO
Mutations in the gene encoding plastin-3, PLS3, have recently been associated to severe primary osteoporosis. The molecular function of plastin-3 is not fully understood. Since PLS3 is located on the X chromosome, males are usually more severely affected than females. PLS3 mutations have thus far been reported in approximately 20 young patients with low bone mineral density (BMD). We describe an 8-year-old Greek boy with severe primary osteoporosis with multiple vertebral compression fractures and one low-energy long bone fracture. His clinical manifestations were consistent with osteogenesis imperfecta, including blue sclerae, joint hypermobility, low bone mineral density, kyphosis, bilateral conductive hearing loss, and mild dysmorphic features. The family history was negative for primary osteoporosis. COL1A1 and COL1A2 mutations were excluded by Sanger sequencing. However, Sanger sequencing of PLS3 led to the identification of a de novo frameshift deletion, NM_005032: c.1096_1100delAACTT, p.(Asn366Serfs*5), in exon 10 confirming the diagnosis of PLS3 osteoporosis. In conclusion, we describe a novel frameshift deletion in PLS3 causing severe primary osteoporosis in a boy. Our finding highlights the clinical overlap between type I collagen and PLS3-related skeletal fragility and underscores the importance of PLS3 screening in patients with multiple fractures to enable proper genetic counseling.
Assuntos
Mutação da Fase de Leitura/genética , Glicoproteínas de Membrana/genética , Proteínas dos Microfilamentos/genética , Osteoporose/genética , Deleção de Sequência/genética , Sequência de Bases , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Linhagem , Fraturas da Coluna Vertebral/diagnóstico por imagem , Fraturas da Coluna Vertebral/patologia , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/patologiaRESUMO
Desmoplastic small round cell tumor (DSRCT) is a rare neoplasm with aggressive behavior. Usually it presents as a peritoneal mass, although other cases in various locations have been described. Since less than 10 cases of primary DSRCT in the pleura have been described, it is of interest to report a pediatric case arising from the pleura. The diagnosis was confirmed by molecular detection of the EWS/WT-1 fusion gene product. Multidisciplinary treatment with chemotherapy, radiotherapy, and surgical resection resulted in a progression-free survival time above the median survival, suggesting that this conventional approach could prove effective for this rare and very aggressive malignancy.