ABSTRACT
Paragangliomas de bexiga são tumores raros, potencialmente fatais, cujo reconhecimento imediato é necessário para o manejo adequado e desfecho bem sucedido. Descreve-se o caso de um homem de 51 anos com queixa de hematúria macroscópica. À investigação inicial, a ultrassonografia abdominal mostrou aumento prostático. Durante a prostatectomia transuretral, foi identificada uma tumoração na bexiga, na qual foi realizada biópsia. O exame histopatológico inicial sugeriu neoplasia maligna infiltrativa, porém, o estudo imuno-histoquímico realizado após ressecção cirúrgica revelou que, em realidade, foi de um paraganglioma de bexiga. O paciente encontra-se livre de doença cinco anos após o diagnóstico. Nesse trabalho são apresentados os desafios no diagnóstico dos paragangliomas de bexiga e uma breve discussão e revisão da literatura.
Urinary bladder paraganglioma is a rare life-threating disorder and its prompt recognition is needed for an adequate management and successful outcome. A case of a 51-year-old man who presented with painless gross hematuria is described. On initial investigation, an abdominal ultrassonography disclosed an increased prostate. During transurethral prostatectomy, a urinary bladder mass was identified and biopsied. Initial histopathological examination suggested a malignant infiltrative neoplasia, and, after surgical resection, immunohistochemical study revealed that it was a urinary bladder paraganglioma. The patient has been disease-free at 5 years of follow-up. Challenging aspects of the diagnosis of urinary bladder paragangliomas are described, and a brief discussion and review of literature are provided.
ABSTRACT
CONTEXT: Mutations in TAC3 and TACR3 (encoding neurokinin B and its receptor) have been identified in Turkish patients with idiopathic hypogonadotropic hypogonadism (IHH), but broader populations have not yet been tested and genotype-phenotype correlations have not been established. OBJECTIVE: A broad cohort of normosmic IHH probands was screened for mutations in TAC3/TACR3 to evaluate the prevalence of such mutations and define the genotype/phenotype relationships. DESIGN AND SETTING: The study consisted of sequencing of TAC3/TACR3, in vitro functional assays, and neuroendocrine phenotyping conducted in tertiary care centers worldwide. PATIENTS OR OTHER PARTICIPANTS: 345 probands, 18 family members, and 292 controls were studied. INTERVENTION: Reproductive phenotypes throughout reproductive life and before and after therapy were examined. MAIN OUTCOME MEASURE: Rare sequence variants in TAC3/TACR3 were detected. RESULTS: In TACR3, 19 probands harbored 13 distinct coding sequence rare nucleotide variants [three nonsense mutations, six nonsynonymous, four synonymous (one predicted to affect splicing)]. In TAC3, one homozygous single base pair deletion was identified, resulting in complete loss of the neurokinin B decapeptide. Phenotypic information was available on 16 males and seven females with coding sequence variants in TACR3/TAC3. Of the 16 males, 15 had microphallus; none of the females had spontaneous thelarche. Seven of the 16 males and five of the seven females were assessed after discontinuation of therapy; six of the seven males and four of the five females demonstrated evidence for reversibility of their hypogonadotropism. CONCLUSIONS: Mutations in the neurokinin B pathway are relatively common as causes of hypogonadism. Although the neurokinin B pathway appears essential during early sexual development, its importance in sustaining the integrity of the hypothalamic-pituitary-gonadal axis appears attenuated over time.
