Sarcoma sinovial monofásico con componente intraneural.: Informe de un caso con expresión inmunohistoquímica del factor de transcripción TLE-1 y presencia de translocación t (X;18) (SYT-SX1)

Synovial sarcoma is a high-grade neoplasm, of uncertain histogenesis, which comprises 5- 10% of all soft tissue sarcomas, and occurs, most frequently in the lower extremities. Intraneural location is extremely rare and it has only been reported in nine cases. The differential diagnosis of an intraneural SS is established with fibrosarcoma and malignant peripheral nerve sheath tumor. Positive immunostaining for cytokeratins and EMA is helpful but may be non-specific. Positive immunostaining for TLE-1 (Transducin-Like Enhancer of split 1) has great sensibility and specificity for the diagnosis of SS. Molecular analysis has a better specificity for diagnosis, because t(X;18)(SYT-SSX ) translocation, may be found in >80% of cases. We report herein, a case of a soft tissue monophasic SS, of a 20 years-old women, which presented a focal intraneural component, affecting the endoneurium of the cyatic nerve. The tumor expressed by immunohistochemistry TTL-1 and molecular analysis identified SYT-SSX1 translocation, allowing exclusion of other possible diagnosis. We review the concept related to the SS cellular origin. Pain, which is a significant clinical feature of SS, the gross relationship to nerve, the intraneural component present in some cases, the histological similarity with nerve sheath tumors, and the presence of calcospherites, unmyelinated fibers and endoneurial-like mucous, support the hypothesis of a possible intraneural origin.El sarcoma sinovial es una neoplasia de alto grado, de histogénesis incierta, que representa el 5-10% de todos los sarcomas blandos, y afecta más frecuentemente las extremidades inferiores. La localización intraneural es extremadamente rara y solamente hay informados nueve casos. El diagnóstico diferencial de los SS intraneurales se establece con fibrosarcoma y con el tumor de vaina nerviosa periférica maligno. La inmunomarcación positiva para las citoqueratinas y el EMA es de ayuda pero puede ser no específica. La inmunomarcación positiva para TLE-1 (Transducin-Like Enhancer of split 1) tiene gran sensibilidad y especificidad para el diagnóstico de los SS. El análisis molecular tiene mejor especificidad para el diagnóstico, porque la translocación t(X;18)(SYT-SSX) se puede encontrar hasta en el 80% de casos. Informamos en este estudio un caso de un SS monofásico de tejidos blandos del muslo, en una mujer de 20 años, que presentó un componente intraneural, afectando el endoneuro del nervio ciático. El tumor expresó por inmunohistoquímica TTL-1 y el análisis molecular identificó la translocación SYT-SSX1, permitiendo la exclusión de otros diagnósticos posibles. Revisamos el concepto relacionado con el origen celular de los SS. El dolor, que es una característica clínica presente en los SS, la relación macroscópica con nervios, el componente intraneural presente en algunos casos, la semejanza histológica con los tumores de la vaina nerviosa periférica, y de la presencia de los calcosferitas, fibras amielínicas y el moco semejante al endoneural, apoyan la hipótesis de un posible origen intraneura

Reporting detection of Chlamydia trachomatis DNA in tissues of neonatal death cases

OBJECTIVE: to determine whether C. trachomatis was present in neonates with infection, but without an isolated pathogen, who died during the first week of life. METHODS: early neonatal death cases whose causes of death had been previously adjudicated by the institutional mortality committee were randomly selected. End-point and real-time polymerase chain reaction of the C. trachomatis omp1 gene was used to blindly identify the presence of chlamydial DNA in the paraffinized samples of five organs (from authorized autopsies) of each of the dead neonates. Additionally, differential diagnoses were conducted by amplifying a fragment of the 16S rRNA of Mycoplasma spp. RESULTS: in five cases (35.7%), C. trachomatis DNA was found in one or more organs. Severe neonatal infection was present in three cases; one of them corresponded to genotype D of C. trachomatis. Interestingly, another case fulfilled the same criteria but had a positive polymerase chain reaction for Mycoplasma hominis, a pathogen known to produce sepsis in newborns. CONCLUSION: the use of molecular biology techniques in these cases of early infant mortality demonstrated that C. trachomatis could play a role in the development of severe infection and in early neonatal death, similarly to that observed with Mycoplasma hominis. Further study is required to determine the pathogenesis of this perinatal infection