RESUMO
OBJECTIVES: To assess the use of molecular genotyping to accurately diagnose and treat human chorionic gonadotropin (hCG)-producing tumors and to evaluate the discriminating capacity of molecular testing on prognosis and overall survival. METHODS: We conducted a retrospective descriptive study of patients registered with the French Reference Center for Trophoblastic Disease between 1999 and 2021. We included all patients with hCG-producing tumors for whom results of molecular genotyping were available. RESULTS: Fifty-five patients with molecular genotyping were included: 81.2 % (n = 45) had tumors of gestational origin, 12.7 % (n = 7) of non-gestational origin and 5.5 % (n = 3) of undetermined origin. The results of molecular genotyping influenced the treatment decisions for 17 % of patients in this cohort. Overall survival was 93.3 % for patients with gestational tumors (after a median follow-up of 74 months) compared to 71.4 % for patients with non-gestational tumors (after a median follow-up of 23 months). CONCLUSION: In atypical presentations of hCG-producing tumors, molecular genotyping is a valuable tool to guide diagnosis and tailor treatment recommendations.
Assuntos
Doença Trofoblástica Gestacional , Neoplasias Uterinas , Gravidez , Feminino , Humanos , Neoplasias Uterinas/diagnóstico , Estudos Retrospectivos , Genótipo , Doença Trofoblástica Gestacional/diagnóstico , Doença Trofoblástica Gestacional/genética , Doença Trofoblástica Gestacional/terapia , Gonadotropina CoriônicaAssuntos
Agenesia do Corpo Caloso/diagnóstico por imagem , Encefalopatias/diagnóstico por imagem , Cérebro/diagnóstico por imagem , Cistos/diagnóstico por imagem , Adulto , Agenesia do Corpo Caloso/diagnóstico , Encefalopatias/diagnóstico , Córtex Cerebral/anormalidades , Córtex Cerebral/anatomia & histologia , Cistos/diagnóstico , Feminino , Humanos , Imageamento por Ressonância Magnética , Gravidez , Ultrassonografia Pré-NatalRESUMO
This study was designed to assess if cytology was accurate for an appropriate diagnosis of ovarian and paraovarian cysts, and if the ultrasound-cytology-estradiol (UCE) triad was sufficient to discriminate functional vs. nonfunctional cysts, the latter requiring surgical resection. One hundred twenty-two ultrasound-diagnosed adnexal cysts were punctured and surgically removed, and then subjected to cytologic and histologic examinations; 90 of these fluids were assayed for estradiol. Histologically, 30 cysts were functional and 92 were nonfunctional. A correct discrimination between functional and nonfunctional origin was obtained in 54.9% of cases with cytology, in 94.4% with estradiol assay, in 50.8% with ultrasonography, and in 97.8% with these three examinations combined (UCE triad). Among the 34 patients with no criteria of neoplastic origin (age >40, ultrasonographic findings), the UCE triad diagnosed six functional cysts. Therefore, 17.6% (6/34) of these young women could have avoided unnecessary surgery. Diagn. Cytopathol. 2000;22:70-80.
Assuntos
Cistos Ovarianos/patologia , Cisto Parovariano/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha/métodos , Criança , Estradiol/metabolismo , Estudos de Avaliação como Assunto , Feminino , Humanos , Pessoa de Meia-Idade , Cistos Ovarianos/diagnóstico por imagem , Cistos Ovarianos/metabolismo , Cisto Parovariano/diagnóstico por imagem , Cisto Parovariano/metabolismo , Reprodutibilidade dos Testes , UltrassonografiaRESUMO
Synovial sarcoma most commonly occurs in the peri-articular regions of the extremities. We report a case of primary pulmonary monophasic synovial sarcoma. This tumor is extremely rare and shows a particular immunohistochemical pattern of great help for the diagnosis. Cytogenetic study confirm the diagnosis by showing the specific t (X; 18) chromosomal translocation, characteristic of synovial sarcoma in all anatomic locations.
Assuntos
Análise Citogenética , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/genética , Sarcoma Sinovial/diagnóstico , Sarcoma Sinovial/genética , Adulto , Biomarcadores/análise , Cromossomos Humanos Par 18 , Humanos , Imuno-Histoquímica , Neoplasias Pulmonares/patologia , Masculino , Sarcoma Sinovial/patologia , Translocação Genética , Cromossomo XRESUMO
Relapsing polychondritis is a rare and little known inflammatory disease. The case of a 29-year-old woman who presented with a one-year history of saddle nose is discussed in this article. After waiting for one year, rhinoplasty was decided, with a good result at the 18th month. We prefer to use a calvarial bone graft for this disease and to only operate under stable and minor conditions.