RESUMEN
The characteristic immunoprofile for the diagnosis of synovial sarcoma, a neoplasm of unclear tissue origin, is expression of transducer-like enhancer of split 1 (TLE-1), CD99, partial expression of cytokeratin, and epithelial membrane antigen by immunohistochemistry (IHC). Diagnostic dilemma or misdiagnosis can occur due to overlap in IHC and morphology with carcinomas, and particularly poorly differentiated and metastatic tumors. The frequency of TLE-1 and CD99 expression in carcinomas by IHC has not been previously assessed. We evaluated TLE-1 and CD99 expression in various carcinomas and evaluated the expression of the SS18 (SYT) gene rearrangement (a characteristic biomarker for synovial sarcoma) in tumors with TLE-1 and/or CD99 expression. Immunostains of TLE-1 and CD99 were performed in 100 various carcinomas. Seven of the 98 cases (7%) of carcinomas showed TLE-1 expression, including 1 each of prostate adenocarcinoma (ADCA), esophageal ADCA, basal cell carcinoma, adrenocortical carcinoma, endometrial ADCA, ovarian serous carcinoma, and small cell carcinoma. Twenty-one of the 100 cases (21%) of carcinomas demonstrated CD99 expression, including 6 prostate ADCA, 3 esophageal ADCA, 5 squamous cell carcinomas, 2 hepatocellular carcinomas, 1 each for endometrial ADCA, renal cell carcinoma, urothelial cell carcinoma, neuroendocrine carcinoma, and mucoepidermoid carcinoma. An esophageal ADCA was positive for both TLE-1 and CD99. None of the carcinomas with positive TLE-1 (n=7) or CD99 (n=21) by IHC showed SS18 gene rearrangement by fluorescent in situ hybridization. TLE-1 and CD99 expression were identified in 7% and 21% of carcinomas, respectively. This is a potential pitfall in the IHC interpretation for diagnosis of synovial sarcoma. SS18 gene rearrangement by fluorescent in situ hybridization is helpful for the diagnostically challenging cases, either for confirmation or exclusion of synovial sarcoma.
Asunto(s)
Antígeno 12E7/metabolismo , Biomarcadores de Tumor/metabolismo , Proteínas Proto-Oncogénicas/metabolismo , Proteínas Represoras/metabolismo , Sarcoma Sinovial/metabolismo , Proteínas Co-Represoras , Errores Diagnósticos/prevención & control , Reordenamiento Génico , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Proteínas Proto-Oncogénicas/genética , Proteínas Represoras/genética , Sarcoma Sinovial/diagnóstico , Sarcoma Sinovial/genéticaRESUMEN
Two males presented to our urology department with complaints of bleeding and malodor from buried phallus within a suprapubic fat pad. Although both men had neonatal circumcisions, advanced penile carcinoma was found in both men. Formal penectomies showed high grade, poorly differentiated squamous cell carcinoma invading the corporal bodies and urethra. Buried penis represents a difficulty in early detection of suspicious lesions but may also provide an environment susceptible to poor hygiene and subsequent chronic inflammation. Patients with buried penis may be at a higher risk for development of invasive penile cancer and may benefit from regular and thorough genital exams.
RESUMEN
Expression of the transducin-like enhancer of split 1 (TLE1) by immunohistochemistry (IHC) has been widely used as a biomarker for the diagnosis of synovial sarcoma. Although TLE1 expression can be identified in more than 90% of synovial sarcomas, positive staining has been reported in up to one third of nonsynovial sarcomas, including peripheral nerve sheath tumors and neoplasms of fibrous and adipose tissues. The low specificity of this test in soft tissue tumors raises concern on its clinical application as a diagnostic biomarker. As synovial sarcoma is frequent among the differential diagnosis of unclassified high-grade sarcomas, and considering that the specificity of TLE1 antibody in this tumor group remains unclear, we evaluated TLE1 expression by IHC in 42 unclassified high-grade sarcomas. SS18 (SYT) gene break-apart analyses by fluorescence in situ hybridization were simultaneously performed as a gold standard biomarker for synovial sarcoma. Five cases that were positive for the SS18 break-apart by fluorescence in situ hybridization were also positive for TLE1 by IHC, whereas the remaining 37 cases negative for SS18 break-apart were all negative for TLE1. The results showed no evidence of nonspecific TLE1 expression in the nonsynovial high-grade sarcomas. We concluded that TLE1 is a highly specific biomarker for synovial sarcoma in the setting of differential diagnosis of unclassified high-grade sarcomas.
Asunto(s)
Biomarcadores de Tumor/metabolismo , Neoplasias de Tejido Adiposo/diagnóstico , Neoplasias de Tejido Fibroso/diagnóstico , Neoplasias de la Vaina del Nervio/diagnóstico , Proteínas de Fusión Oncogénica/metabolismo , Proteínas Represoras/metabolismo , Sarcoma Sinovial/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Proteínas Co-Represoras , Diagnóstico Diferencial , Femenino , Regulación de la Expresión Génica , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Neoplasias de Tejido Adiposo/patología , Neoplasias de Tejido Fibroso/patología , Neoplasias de la Vaina del Nervio/patología , Proteínas Represoras/genética , Sarcoma Sinovial/patología , Sensibilidad y Especificidad , Adulto JovenRESUMEN
BACKGROUND: Mesonephric duct remnants usually do not present any clinical dilemma. However, if the cellular lining remains active, it may lead to cystic lesions that may cause pain or torsion of the adnexa. CASE: This is a 13-year-old female who presented because of severe pelvic pain. Ultrasound and CT scan revealed a large cystic mass in the pelvis. Mini-laparotomy confirmed torsion of the left adnexa due to the mass. The adnexa was untwisted. The cyst and the left tube were removed and the ovary regained its blood flow and was saved. SUMMARY AND CONCLUSION: Mesonephric duct cyst should be considered in the diagnosis of pelvic masses in adolescent girls.
Asunto(s)
Enfermedades de los Anexos/complicaciones , Quistes/complicaciones , Quistes/diagnóstico , Anomalía Torsional/complicaciones , Enfermedades de los Anexos/cirugía , Adolescente , Quistes/cirugía , Femenino , Humanos , Anomalía Torsional/cirugía , Conductos MesonéfricosRESUMEN
We describe a pediatric patient with histiocytic sarcoma involving the T6 and L4 vertebral bodies and the lungs. His tumor progressed during chemotherapy designed for Langerhans' cell histiocytosis and sarcoma. High-dose radiation, on the other hand, was effective.
Asunto(s)
Histiocitosis de Células de Langerhans , Neoplasias Pulmonares , Sarcoma , Neoplasias de la Columna Vertebral , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Preescolar , Histiocitosis de Células de Langerhans/diagnóstico , Histiocitosis de Células de Langerhans/tratamiento farmacológico , Humanos , Vértebras Lumbares , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/tratamiento farmacológico , Masculino , Sarcoma/diagnóstico , Sarcoma/tratamiento farmacológico , Neoplasias de la Columna Vertebral/diagnóstico , Neoplasias de la Columna Vertebral/tratamiento farmacológico , Vértebras TorácicasRESUMEN
Amyloidoma (localized tumorlike amyloidosis) in the soft tissues is rare. We present an instructive case of recurrent amyloidoma in the soft tissue of the ankle in a 45-year-old man with multiple surgical procedures and chronic osteomyelitis of the underlying bones. The lesion evaded diagnosis because of a florid giant cell reaction that led to various misdiagnoses, including giant cell tumor of tendon sheath, foreign body reaction secondary to surgery, and pseudogout. This case demonstrates the importance of considering the possibility of amyloidoma when a giant cell-rich lesion is encountered in the soft tissues.