Tumor neuroectodérmico maligno del tracto gastrointestinal: a propósito de un caso / Malignant neuroectodermal tumor of the gastrointestinal tract: case report

El tumor neuroectodérmico maligno del tracto gastrointestinal es una neoplasia rara con pocos casos reportados en la literatura, especialmente en América Latina. Descrito por primera vez en 2003, se trata de una entidad sin tratamiento estandarizado y de pobre pronóstico. Se presenta el caso de una paciente de 22 años de edad que acude a la consulta por dolor abdominal, anemia y masa abdominal palpable. Luego de estudios pertinentes se decide la conducta resectiva y el posterior tratamiento oncológico. (AU)

Malignant gastrointestinal neuroectodermal tumor (GNET), formerly known as clear cell sarcoma of the gastrointestinal tract, is an extremely rare tumor of mesenchymal origin, which presents great microscopic and molecular similarity to clear cell sarcoma found in other parts of the body, such as tendons and aponeurosis. It is characterized by its rapid evolution, high recurrence rate and frequent diagnosis as metastatic disease.1,2 (AU)

Granular Cell Tumors on Unusual Anatomic Locations

Granular cell tumors (GCTs) are soft tissue tumors, which are thought to be derived from Schwann cells. Although most GCTs are reported to arise in tongue and oral cavity (30-50%), they can appear on any anatomic sites, even visceral organs. Herein, we report 5 cases of GCTs on unusual anatomic locations, such as palm, arm, thigh, finger, and vulvar area. Complete surgical excision is preferred treatment of choice to prevent recurrence. These cases emphasize that GCTs not involving oral cavity are more prevalent than expected, and the diagnosis should be histopathologically confirmed.

Schwannoma intratorácico / Intrathoracic schwannoma

El schwannoma (neurilemoma) es un tumor benigno de lento crecimiento originado en la vaina de Schwann, cuya localización en la cavidad torácica es excepcional. En general es asintomático y se descubre en forma incidental, aunque puede ocasionar síntomas cuando la lesión crece o invade estructuras subyacentes. Su importancia radica en la posibilidad de confusión con tumores malignos. Presentamos una paciente con dolor torácico de evolución prolongada causado por un schwannoma. La imagen tomográfica es sugestiva de tumor extrapulmonar, por ello el schwannoma en esta localización debe ser considerado en el diagnóstico diferencial de tumores pleurales metastásicos o primarios como el lipoma, el tumor fibroso solitario y el mesotelioma.

The schwannoma (neurilemmoma) is a slow-growing benign tumor originating from Schwann sheath whose location in the chest cavity is exceptional. It is generally asymptomatic and is discovered incidentally but can cause symptoms when the lesion grows or invade underlying structures. Its importance lies in the possibility of confusion with malignant tumors. We present a patient who complains of chest pain caused by a prolonged course schwannoma. The tomographic image is suggestive of extrapulmonary tumor, so the schwannoma in this location should be considered in the differential diagnosis of metastatic or primary pleural tumors such as lipoma, solitary fibrous tumor and mesothelioma.

Schwannoma em pálpebra superior esquerda em criança de 10 anos / Schwannoma of the left superior eyelid in a 10-year-old child

Schwannoma é um tumor neurogênico benigno raro, originário das células de Schwann da bainha de mielina dos nervos periféricos. Sua localização nos tecidos oculares não é comum, sendo a órbita o local afetado com maior frequência e o acometimento das pálpebras é muito raro. Há poucos relatos descritos na literatura sobre Schwannoma palpebral, apenas dois em crianças. Este é, em nosso conhecimento, o primeiro caso relatado no Brasil.

Schwannoma is a rare benign neurogenic tumor. It arises from Schwann cells located at the myelin sheath of peripheral nerves. Its incidence is frequently associated with the orbit. Ocular tissues in general and eyelids in particular are rarely affected. Very few reports can be found in the literature describing eyelid schwannomas. Amongst these, we have found only two describing it affecting children. To our knowledge, this is the first case report about eyelid schwanomma in Brazil - and it involves a child.

Critical histopathological analysis of 25 dedifferentiated liposarcomas, including uncommon variants, reviewed at a Tertiary Cancer Referral Center.

Background: De-differentiated liposarcomas (DDLSs) are uncommon tumors with a wide histopathological spectrum. Materials and Methods: Over an 8-year period (2003-2011), 25 DDLSs, after review, were critically analyzed for histopathological features. Results: Twenty-five tumors, in 14 men and 11 women (M: F = 1.2:1), with age range of 22-88 years (mean, 53.9), occurred in retroperitoneum (14) (56%), thigh (3) (12%), paratesticular region (3) (12%), chest wall (2) (8%), leg (1) (4%), shoulder (1) (4%), and groin (1) (4%). Tumor size (21 tumors) varied from 7.5 to 25 cm (mean, 17.5). Histopathologically, DD component was high grade in 19 (76%) and low grade in 6 (24%) tumors. Whereas the most common WD component was adipocytic type; the most common DD component was pleomorphic sarcomatous (13) (52%), followed by myxofibrosarcomatous (MFS)-type (6) (24%). Low-grade DD components included MFS (2), fibrosarcoma (2), myogenic/myofibroblastic type (1), and IMFT-type (1). Three tumors displayed meningothelial-like whorls and metaplastic bone formation. Heterologous elements, noted in 11 (44%) tumors, included bone (8) and rhabdomyoblastic differentiation (2). Two tumors displayed homologous differentiation, reinforced with MDM2 staining. S100-P was diffusely positive in WD components (5/7) and focally in DD components (2/9). All patients were treated with surgery, including 10, who underwent adjuvant radiotherapy. Outcomes (16 patients, 64%), over 1-48 months included 10 patients free of disease, 4 died of disease, and 2 patients alive with disease. Conclusions: This study forms the largest documentation of DDLSs, including its wide histopathological spectrum, from our country. Rare cases overlap with pleomorphic liposarcoma. S100-P and MDM2 are useful in substantiating adipocytic differentiation, especially in selected cases. Analysis of adequate tumor sections is vital for correct identification of a DDLS. Surgical excision with adjuvant RT forms optimal treatment.

Melanoma metastatic to a ruptured silicone breast implant capsule.

Metastasis to the breast is rare and most commonly represents spread from a contra-lateral primary mammary carcinoma. Metastasis of solid non-mammary carcinoma is very rare and melanoma and neuro-endocrine bronchogenic carcinoma are the more common primary neoplasms implicated. In up to half of affected individuals, there may be no prior diagnosis of malignancy. Breast metastasis by melanoma to our knowledge has never been described to an augmented breast, moreover, to a ruptured implant capsule.

A case of a sporadic malignant peripheral nerve sheath tumor of the urinary bladder with concomitant in situ urothelial carcinoma treated by transuretheral resection.

Malignant peripheral nerve sheath tumor (MPNST) of the urinary bladder is a very rare clinical entity. The association of such a tumor with urothelial carcinoma is even more unusual. Differential diagnosis between coexisting two distinct primary tumors and carcinosarcoma of the urinary bladder is very important as both the treatment and prognosis vary widely. Herein, we report a case of an MPNST with a concomitant in situ urothelial carcinoma in a 53-year-old man. To our knowledge, this is the first documented case of MPNST of the bladder that is treated by transuretheral resection which is in contrast with the previous reports that used cystectomy.

Verruciform xanthoma of the penis in a young male masquerading as squamous cell carcinoma: case report

Verruciform xanthoma [VX] is a relatively rare benign lesion of unknown etiology with a predilection for oral mucosa. Penis is an uncommon location and to date only 17 cases of VX of penis have been reported. The lesion assumes importances as it can be easily mistaken for verrucous carcinoma or squamous cell carcinoma. We present herein a case of penile XV in a 25-year-old man who was referred to our institute with a histopathologic diagnosis of squamous cell carcinoma reported elsewhere. On microscopy the lesion demonstrated florid verruciform hyperplasia of the epidermis with hyperkeratosis, parakeratosis and acanthosis. There was a dense infiltrate of foam cells in the papillary dermis [a hallmark of VX], which were positive for CD68 and negative for S-100 protein. We present this case to highlight the significance of recognizing VX in extra oral location. An awareness of this entity is crucial to prevent misdiagnosis and halt inappropriate therapeutic intervention

Congenital epulis.

Congenital epulis of the newborn is a very rare and unique tumor first described in 1871 by Neuman. It has a female predilection. It is a tumor with no tendency to recur after excision. The histogenesis of the lesion is unknown, but it is believed to be of mesenchymal origin. We report a 2-day-old female with tumor mass on the anterior mandibular alveolar ridge, which demonstrated immunoreactivity for vimentin, S-100 and neuron-specific enolase; thus, suggesting a similar histogenesis with granular cell tumor.

Intra-oral schwannoma: case report and literature review.

Schwannoma is a relatively uncommon, slow-growing benign tumor that is derived apparently from the Schwann cells. The tongue is the most common site, followed by the palate, floor of mouth, buccal mucosa, lips, and jaws. It can present itself at any age. Usually, this lesion is not taken into account during clinical practice and the differential diagnosis includes numerous benign neoformations based on epithelial and connective tissues. Immunohistochemical features can be useful in determining the neural differentiation. Anti-S100 protein is probably the most used antibody to identify this lesion. The schwannoma is usually a solitary lesion, and can be multiple when associated with neurofibromatosis. In the current study, authors report a case of an intraoral schwannoma situated at the vestibule with 20 years of evolution treated by complete surgical excision. The diagnosis was established based on clinical, histopathological, and immunohistochemical aspects. The patient is under clinical control, with no signs of recurrence even after four years.

Ossifying fibromyxoid tumor of oral cavity

Ossifying fibromyxoid tumor is a rare tumor of mesenchymal origin with varied presentation at different sites including head and neck. Clinically these are slow growing lesions and patients have a variable age at presentation. A 14 years old girl presented with a slowly enlarging gingival swelling, which on radiological examination showed increased rarefaction in the mandible with a provisional diagnosis of an inflammatory lesion. Microscopically, the tumor had spindle to oval shaped cells in a fibromyxoid background with a peripheral shell of lamellar bone. Histological diagnosis of ossifying fibromyxoid tumor was made after immunohistochemical stains for vimentin and S-100 protein. Recurrence, metastasis and histologically increased mitotic count are indicative of atypical or malignant ossifying fibromyxoid tumors

Spindle cell neoplasm of skin: diagnostic dilemma.

Poorly differentiated, spindle cell malignancies, on sun damaged skin frequently pose a diagnostic challenge for pathologists. The vast majority of these neoplasms ultimately are diagnosed as either atypical fibroxanthoma (AFX), spindle cell melanoma (SCM), and very rarely as spindle cell squamous cell carcinoma (SCSCC), leiomyosarcoma or angiosarcoma. Light microscopic clues may suggest one of these neoplasms, but subtle and overlapping characteristics often render precise diagnosis impossible based on morphological features alone. Immunohistochemistry therefore is necessary to firmly and accurately diagnose the majority of spindle cell malignancies on sun damaged skin. Aim of this case report is to highlight the practical approach to such diagnostic dilemmas.

Gastrointestinal stromal tumors: a demographic, morphologic and immunohistochemical study.

BACKGROUND AND AIM: There is limited published information on gastrointestinal stromal tumors (GIST) in the South Asian region. This study was conducted to describe the demographic characteristics, organ distribution and frequency of risk categories in cases of GIST referred to a tertiary hospital. METHODS: Data pertaining to 37 cases of gastrointestinal stromal tumors received at the histopathology section of the Aga Khan University Hospital between December 2004 and July 2005 were analyzed. Immunohistochemical stains including vimentin, CD34, CD117 (c-kit), ASMA, desmin and S-100 were performed. RESULTS: Of 37 tumors, 24 (64.9%) were from males. The mean age of the patients was 50.0 years (95% CI 45.3-54.6). Tumors were categorized as high risk (27 cases; 69.2%), intermediate risk (4 cases; 10.3%) and low risk (3 cases; 7.7%). The most common site of involvement was the stomach (29.7%), followed by small bowel (24.3%), mesentery (10.8%), pancreas (8.1%), rectum (2.7%) and retroperitoneum (2.7%). In 21.6% of cases, the site of origin was not specified. The mean age at diagnosis was 50.9 years (95% CI 45.5 - 56.3) in the high risk and 44.8 years (95% CI 28.6 - 60.9) in the intermediate risk category. CONCLUSIONS: Cases of GIST referred to us were more frequently from men, most commonly from stomach or small bowel, mostly in the high risk category, and presented a decade earlier than in other reported series.

Malignant peripheral nerve sheath tumour: an elusive diagnosis.

Malignant peripheral nerve sheath tumour (MPNST) also termed as spindle cell malignancy of the peripheral nerve Schwann cells or neurogenic sarcoma, represents approximately 10% of all soft tissue sarcomas. This tumour is usually found in the lower extremities and only 10-12% of all lesions occur in the head and neck region, which makes it a rare entity. The diagnosis of MPNST has been described as one of the most difficult and elusive diagnosis in the soft tissue diseases because of its non-specific presentation both clinically and histopathologically. This was overcome by the use of immunohistochemistry. A case of MPNST of the left maxillary antrum in a 45 -year -old male patient is reported.

A Case of Benign Schwannoma in the Ascending Colon / 대한소화기학회지

Schwannomas are rare tumors derived from the cells of Schwann which form the neural sheath. Some patients with gastrointestinal schwannoma have been previously reported in the literature. However, schwannomas of the colon are extremely rare. We herein describe a case of schwannoma of the colon. A 49-year-old woman was admitted with complaint of abdominal pain and investigations revealed the presence of a 4 cm sized mass in the ascending colon. Following right hemicolectomy, histopathology and immunohistochemistry confirmed the colonic lesion to be a benign schwannoma. There was no evidence of specific complication or recurrence until now.

Malignant peripheral nerve sheath tumor of breast in patient without Von Recklinghausen's neurofibromatosis: a case report.

Malignant peripheral nerve sheath tumor (MPNST) of the breast without Von Recklinghausen's neurofibromatosis (VRN) is extremely rare. The authors report a 19 year-old woman who presented with a 12 month history of a painless mass of the left breast. Tissue biopsy was performed. The histologic diagnosis was made with immunohistochemical study in which the tumor showed positivity of vimentin, S-100 protein, neuron-specific protein(NSE), neurofilament protein(NF) and glial fibrillary acidic protein(GFAP). The patient was referred for radiation therapy after simple mastectomy.

Time-dependent expression of astroglial S100beta following diffuse brain injury in rats / 法医学杂志

OBJECTIVE@#To investigate the dynamics of the induction of S100beta in different parts of rat brain following the diffuse brain injury.@*METHODS@#Immunohistochemistry and auto-image analysis were to determine the expression of astroglial S100beta after diffuse brain injury in rats. Forty rats were distributed into groups according to injury time of 30min, and2,4,12,24h, and 3,6 d after diffuse brain injury, and normal rats as control.@*RESULTS@#The number of S100beta positive cells in the four areas increased significantly followed by a decrease, and then a further increase. The expression of S100beta could be detected increasing in 2h, and increased significantly in 4h, and it reached apex 12h after DBI, and decreased gradually to the level less than normal 3d, and returned to normal 7d following injury. In the postmortem injury groups, there were no significant changes in anti-S100beta immunoreactivities in four areas of brain compared to the control group.@*CONCLUSION@#The present study showed the time-dependent expression of S100beta is obvious following diffuse brain injury, and suggested S100beta be suitable as a marker for brain injury age determination.

Rapid Prenatal Diagnosis of Trisomy 21 by Real-time Quantitative Polymerase Chain Reaction with Amplification of Small Tandem Repeats and S100B in Chromosome 21

Trisomy 21 (Down syndrome) is the most common congenital anomaly, and it occurs in one out of 700-1000 births. Current techniques such as amniocentesis and chorionic villi sampling (CVS) require lengthy laboratory culture procedures and high costs. This study was undertaken to establish a rapid prenatal diagnosis of trisomy 21 using real-time quantitative polymerase chain reaction (PCR) of fetal DNA from amniotic fluid. Real-time quantitative PCR was performed with DNA templates obtained from 14 normal blood samples, 10 normal amniotic fluid samples, 14 Down syndrome blood samples, and 7 Down syndrome amniotic fluid samples. Primers for D21S167 and S100B of chromosome 21 were used. Primers that direct the amplification of the 165-bp fragment of the insulin-like growth factor (IGF) -1 gene on chromosome 12 using a PCR primer were included to generate an internal standard for quantitation. The relative levels of D21S167 and S100B were 2.6 and 2.4 times higher in the blood of Down syndrome patients than those in the control group. The differences between these two groups were statistically significant (p-values were 0.0012 and 0.0016, respectively). The relative levels of D21S167 and S100B were 2.1 and 2.7 times higher in the amniotic fluid of Down syndrome fetuses than those in the control group. The difference between these two groups was statistically significant (p-values were 0.0379 and 0.0379, respectively). Prenatal diagnosis of trisomy 21 by real-time quantitative PCR using STR (small tandem repeats) amplification of D21S167 and S100B is a useful, accurate and rapid diagnostic method. Furthermore, it may also be useful for prenatal diagnosis with fetal DNA from maternal blood, and for preimplantation genetic diagnosis and prenatal counseling.

Malignant peripheral nerve sheath tumor of the maxilla.

The term malignant peripheral nerve sheath tumor (MPNST) refers to most spindle cell sarcomas arising from nerve or neurofibroma or showing nerve sheath differentiation and has been recently adopted by WHO. Malignant tumors of the peripheral nerve sheath are most commonly seen in association with the neurofibroma or at the site of irradiation and may also occur de novo. Its diagnosis has been called "one of the most difficult and elusive diagnosis in soft tissues diseases". We present a rare case of MPNST in a 12-year-old girl, who presented with a swelling of left cheek region of 2 months duration. Intraorally, the swelling extended buccally and palatally from premolar to tuberosity region. Swelling was fixed and firm to hard in consistency. A clinical diagnosis of odontogenic sarcoma was made. It was surgically excised and the histological features were suggestive of malignant peripheral nerve sheath tumor of the maxilla.

Rectal schwannoma.

Solitary schwannomas constitute only 2%-6% of stromal tumors of the gastrointestinal tract; the stomach is the preferred site of involvement. We report a 35-year-old woman who presented with difficulty in defecation. A mass on the posterior wall of the rectum was excised. Histologically, the lesion was a schwannoma, with S-100 proteins positivity and glial fibrillary acidic protein immunoreactivity. The patient is asymptomatic two years later.