RESUMO
Low-grade endometrial stromal sarcoma (LGESS) is a rare malignant uterine tumor with the potential to metastasize years after the primary resection. There is a broad differential diagnosis for endometrial stromal sarcomas (ESS), including both benign and malignant entities. Herein, we present the case of a 64-year-old female with metastatic LGESS to the lung, diagnosed by cytology, 24 years after her initial presentation. This report discusses the cytomorphologic and histopathologic characteristics, and ancillary studies including immunohistochemical stains and recent advances in molecular diagnostics of ESS. Accurate diagnosis of spindle cell lesions in the lung can be challenging. As such, this case highlights the instrumental role of ancillary testing and molecular diagnostics to achieve a more definitive diagnosis.
Assuntos
Neoplasias do Endométrio/diagnóstico , Neoplasias do Endométrio/patologia , Sarcoma do Estroma Endometrial/diagnóstico , Sarcoma do Estroma Endometrial/patologia , Neoplasias Uterinas/patologia , Citodiagnóstico/métodos , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
Secondary kidney involvement by disseminated non-Hodgkin's lymphoma (NHL) is quite common and is estimated to approach 30 - 60% in NHL patients. However, primary renal lymphoma is exceedingly rare and estimated to make up less than 1% of all kidney masses. We report a case of primary renal NHL presenting with profound hypercalcemia and renal failure recalcitrant to medical management, ultimately treated with urgent radical nephrectomy. To our knowledge, this is the first report of primary renal lymphoma presenting in this acute fashion.
RESUMO
Lynch syndrome (LS) is an inherited clinical syndrome characterized by a high risk of colorectal, endometrial (lifetime risk of up to 60%), ovarian, and urinary tract cancers. The diagnosis is confirmed by identification of germline mutations in the DNA mismatch repair genes MLH1, PMS2, MSH2, MSH6, or EPCAM. In 2015, our institution implemented universal screening of endometrial cancer (EC) hysterectomy specimens by mismatch repair immunohistochemistry (IHC) with reflex MLH1 promoter hypermethylation analysis for tumors with loss of MLH1/PMS2 expression. Patients with tumors negative for MLH1 methylation and those with a loss of the heterodimer pair MSH2 and MSH6, or isolated loss of either PMS2 or MSH6 were referred to the Familial Cancer Program for genetic counseling and consideration of germline testing. Between May 2015 to Dec 2016, 233 EC patients were screened by IHC for LS with a median age of 63 years. Sixty tumors (27%) had abnormal IHC staining results. Fifty-one (22%) harbored heterodimeric loss of MLH1 and PMS2, 49 of which showed MLH1 promoter methylation (1 failure, 1 negative). One showed loss of MLH1/PMS2 and MSH6, 2 showed loss of MSH2/MSH6, and 6 had isolated loss of MSH6 only. Ten patients underwent genetic counseling, and germline testing was performed in 8; LS was confirmed in 5 patients (2.1%). In addition, 3 patients with negative germline testing and presumed Lynch-like syndrome were identified and offered additional somatic testing. Universal screening for LS in EC patients has yielded positive results for identification of patients at risk for this inherited syndrome.
Assuntos
Biomarcadores Tumorais/genética , Neoplasias Colorretais Hereditárias sem Polipose/genética , Análise Mutacional de DNA , Detecção Precoce de Câncer/métodos , Neoplasias do Endométrio/genética , Mutação em Linhagem Germinativa , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Metilação de DNA , Proteínas de Ligação a DNA/genética , Neoplasias do Endométrio/patologia , Neoplasias do Endométrio/cirurgia , Molécula de Adesão da Célula Epitelial/genética , Feminino , Aconselhamento Genético , Predisposição Genética para Doença , Hereditariedade , Humanos , Histerectomia , Imuno-Histoquímica , Pessoa de Meia-Idade , Endonuclease PMS2 de Reparo de Erro de Pareamento/genética , Proteína 1 Homóloga a MutL/genética , Proteína 2 Homóloga a MutS/genética , Taxa de Mutação , Linhagem , Fenótipo , Valor Preditivo dos Testes , Estudos RetrospectivosRESUMO
Intracardiac abscess resulting in complete heart block is an infrequent complication of infective endocarditis. Most presentations of endocarditis are limited to valvular and perivalvular structures, with varying degrees of heart block occurring in the minority of cases. We report a case of endocarditis manifesting as chest pain associated with ST segment elevation and complete heart block. The patient expired unexpectedly within a few hours of presentation. Postmortem examination revealed an atrial septal abscess, purulent pericardial collection, and fibrinous pericarditis. Spread of the abscess into the atrial septum was postulated to be the cause of the complete heart block. In endocarditis, the ominous development of heart block and a poor response to antibiotic therapy imply significant extension of the infection. Management therefore requires prompt ventricular pacing with consideration for valve replacement and possible pericardial drainage.