RESUMO
PURPOSE: Ectopic adrenal cortical adenoma in the spinal region is extremely rare. The majority of cases of ectopic adrenocortical tissue are found along the path of embryonic migration within the urogenital tract. Beckwith-Wiedemann syndrome (BWS) is a pediatric overgrowth disorder involving a predisposition to tumor development, including adrenal lesions. To date, only eight spinal cases have been reported. This is the third reported case in pediatric population, the first one associated with genetic syndrome and the first benign to recur. We review the current literature on this topic. CASE DESCRIPTION: We present a 2-year-old boy affected by Beckwith-Wiedemann syndrome who developed a tumor at L4-L5 level. He underwent a gross total resection with MRI post-surgery demonstrating non-residual tumor. Histology disclosed an ectopic adrenal cortical adenoma with oncocytic features. Immunohistochemically was positive for inhibin-alpha, synaptophysin, and melan-A. It was negative for chromogranin A, GFAP, S-100, and other markers. One year later, he developed a recurrence at the same level being necessary a second surgery leaving a small sheet of residual tumor. CONCLUSION: Spinal adrenocortical adenomas are exceptional, and its behavior could be related to other conditions such as BWS. Gross total resection can be curative but a tight follow-up is needed. Immunohistochemical studies that include inhibin-alpha, synaptophysin, and melan-A can be useful in differential diagnosis as ultrastructural study. The decision on how to treat these patients is difficult given the low number of cases.
Assuntos
Neoplasias do Córtex Suprarrenal/diagnóstico por imagem , Adenoma Adrenocortical/diagnóstico por imagem , Síndrome de Beckwith-Wiedemann/diagnóstico por imagem , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias do Córtex Suprarrenal/complicações , Neoplasias do Córtex Suprarrenal/cirurgia , Adenoma Adrenocortical/complicações , Adenoma Adrenocortical/cirurgia , Síndrome de Beckwith-Wiedemann/complicações , Síndrome de Beckwith-Wiedemann/cirurgia , Pré-Escolar , Humanos , Masculino , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/cirurgiaRESUMO
BACKGROUND: Neonatal tumors represent an extremely rare and heterogeneous disease with an unknown etiology. Due to its early onset, it has been proposed that genetic factors could play a critical role; however, germline genetic analysis is not usually performed in neonatal cancer patients PATIENTS AND METHODS: To improve the identification of cancer genetic predisposition syndromes, we retrospectively review clinical characteristics in 45 patients with confirmed tumor diagnosis before 28 days of age, and we carried out germline genetic analysis in 20 patients using next-generation sequencing and directed sequencing. RESULTS: The genetic studies did not find any germline mutation except patients diagnosed with bilateral retinoblastoma who harbored RB1 germline mutations. CONCLUSIONS: Our results suggest that genetic factors have almost no higher impact in most neonatal tumors. However, since the heterogeneity of the tumors and the small sample size analyzed, we recommend complementary and centralized germline studies to discard the early onset as an additional criterion to take into account to improve the identification of cancer genetic predisposition syndromes in neonates.
Assuntos
Doenças Fetais/genética , Neoplasias/genética , Feminino , Predisposição Genética para Doença , Testes Genéticos , Mutação em Linhagem Germinativa , Humanos , Recém-Nascido , Masculino , Estudos RetrospectivosRESUMO
Most of urothelial carcinomas (UC) have a pattern of histological growth of papillary or solid type; nevertheless, in some cases there are histological types that significantly differ from these habitual patterns In this paper we have selected those UC variants that by its diagnosis difficulty and therapeutical or prognosis implications have to be perfectly identified and known by pathologists and urologist. The variants that we have considered of greater clinical and pathological interest have been: tubular and/or nested UC, microcystic UC, micropapillary UC, lymphoepithelioma like UC, plasmacytoid UC and sarcomatoid UC. A revision of the literature has been made of each one of these patterns evaluating the criteria diagnoses, clinical behavior and the present therapeutic options. In addition, we suggest that these UC variants must be explicitly reflected in the pathology report, due to its clinical implications.