TCR-γ expression in primary cutaneous T-cell lymphomas.

Primary cutaneous γδ T-cell lymphomas (PCGD-TCLs) are considered a subgroup of aggressive cytotoxic T-cell lymphomas (CTCLs). We have taken advantage of a new, commercially available antibody that recognizes the T-cell receptor-γ (TCR-γ) subunit of the TCR in paraffin-embedded tissue. We have analyzed a series of 146 primary cutaneous T-cell lymphomas received for consultation or a second opinion in the CNIO Pathology Department. Cases were classified according to the World Health Organization 2008 classification as mycosis fungoides (MF; n=96), PCGD-TCLs (n=5), pagetoid reticulosis (n=6), CD30(+) primary cutaneous anaplastic large cell lymphomas (n=5), primary cutaneous CD8 aggressive epidermotropic CTCLs (n=3), primary cutaneous CTCL, not otherwise specified (n=4), and extranodal nasal-type NK/T-cell lymphomas primarily affecting the skin or subcutaneous tissue (n=11). Sixteen cases of the newly named lymphomatoid papulosis type D (LyP-D; n=16) were also included. In those cases positive for TCR-γ, a further panel of 13 antibodies was used for analysis, including TIA-1, granzyme B, and perforin. Clinical and follow-up data were recorded in all cases. Twelve cases (8.2%) were positive for TCR-γ, including 5 PCGD-TCLs, 2 MFs, and 5 LyP-Ds. All 5 PCGD-TCL patients and 1 MF patient died of the disease, whereas the other MF patient and all those with LyP-D were alive. All cases expressed cytotoxic markers, were frequently CD3(+)/CD8(+), and tended to lose CD5 and CD7 expressions. Eight of 12 and 5 of 11 cases were CD30(+) and CD56(+), respectively. Interestingly, 5/12 TCR-γ-positive cases also expressed TCR-BF1. All cases analyzed were negative for Epstein-Barr virus-encoded RNA. In conclusion, TCR-γ expression seems to be rare and is confined to cytotoxic primary cutaneous TCLs. Nevertheless, its expression is not exclusive to PCGD-TCLs, as TCR-γ protein can be found in other CTCLs. Moreover, its expression does not seem to be associated with bad prognosis by itself, as it can be found in cases with good and bad outcomes.

[Rabdomiosarcoma primario de corazón como causa de síncope recurrente en el adulto]. / Recurrent sycope secundary to primary cardiac rhabdomyosarcoma.

Primary or secondary neoplasms can affect the heart. Secondary are more common. However, primary neoplasms are relevant because is a group with diverse genesis, behavior, treatment and clinical manifestations. We present a case of a 45 year-old woman, with recurrent syncope started 1 year before her first consult. She had palpitations and chest pain. Echocardiography identified a left atrium mass of 2.1x1.8 cm. Endomyocardial biopsy document a primary rhabdomyosarcoma of the heart. The patient dies after a overall-survival of 22 months. This case presented had a good study of its symptoms with an accurate diagnosis and early treatment, which provided prolonged survival of this rare and aggressive neoplasm.

Rabdomiosarcoma primario de corazón como causa de síncope recurrente en el adulto / Recurrent sycope secundary to primary cardiac rhabdomyosarcoma

El corazón puede ser afectado por neoplasias primarias o secundarias. Estas últimas son más frecuentes. Sin embargo, las neoplasias primarias adquieren particular importancia ya que constituyen un grupo de diverso origen y comportamiento, que se traduce en un tratamiento y manifestaciones clínicas diferentes. Se presenta el caso de una mujer de 45 años, quien consultó por síncopes a repetición de un año de evolución, acompañados de palpitaciones y dolor torácico. El ecocardiograma identificó masa de 2.1 cm por 1.8 cm en aurícula izquierda. La biopsia endomiocárdica demostró un rabdomiosarcoma primario de corazón. La paciente muere luego de documentarse una sobrevida de 22 meses. En este caso se observó una sobrevida prolongada, gracias al adecuado estudio de sus síntomas, diagnóstico y tratamiento precoz.

Primary or secondary neoplasms can affect the heart. Secondary are more common. However, primary neoplasms are relevant because is a group with diverse genesis, behavior, treatment and clinical manifestations. We present a case of a 45 year-old woman, with recurrent syncope started 1 year before her first consult. She had palpitations and chest pain. Echocardiography identifed a left atrium mass of 2.1 x 1.8 cm. Endomyocardial biopsy document a primary rhabdomyosarcoma of the heart. The patient dies after a overall-survival of 22 months. This case presented had a good study of its symptoms with an accurate diagnosis and early treatment, which provided prolonged survival of this rare and aggressive neoplasm.

Intrathyroidal parathyroid carcinoma in a pediatric patient.

Parathyroid carcinoma is unusual and its intrathyroidal variant is extremely rare. Therefore, few cases have been reported to describe a case of parathyroid carcinoma located inside the thyroid gland. The case corresponds to a 14-year-old girl who came to the office with a severe osteoarticular disease, depression, calcemia of 14.3 mg/dl and parathyroid hormone of 2,792 pg/ml. Right neck exploration was conducted and a parathyroid carcinoma was found located intrathyroidally. A right thyroid lobectomy was performed. A 20-month follow-up period revealed no recurrence of clinical or biochemical signs. In patients with severe hypercalcemia and significant elevation of parathyroid hormone, the diagnosis of parathyroid carcinoma has to be considered. It is worth highlighting the early age of presentation in this case. Treatment has allowed the effective control of the disease and its recommended long-term follow-up.

Tumor maligno de la vaina del nervio periférico del mediastino en un paciente con neurofibromatosis tipo 1 / Mediastinal malignant peripheral nerve sheath tumor in a neurofibromatosis type 1 patient

El tumor maligno de la vaina del nervio periférico (TMVNP), es una neoplasia maligna originada en las células de Schwan de la vaina de revestimiento del nervio periférico. Describir el caso de un hombre con neurofibromatosis tipo 1 (NF1), quién presentó un TMVNP de bajo grado, y realizar una discusión sobre esta enfermedad. Hombre de 28 años, con antecedente de NF1 diagnosticada a los 15 años de edad, con dolor pleurítico izquierdo, disnea y pérdida de peso de 10 meses de evolución. Al examen de tórax, se observó marcada hipercifosis dorsal con disminución del murmullo pulmonar. La radiografía de tórax y tomografía axial computarizada (TAC), evidenciaron gran masa radioopaca bien delimitada en mediastino posterior. Por lo anterior, se realizo biopsia por punción con aguja gruesa guiada por TAC, en la cual se identificó una neoplasia maligna mesenquimal. Se decidió realizar resección del tumor a través de toracotomía posterolateral, en la que se obtuvo gran masa de 8x9x9 cm, de superficie externa irregular, pardo-violácea y consistencia firme. El estudio histopatologico e inmunofenotípico concluyo el diagnóstico de TMVNP en mediastino posterior Grado 1. Posterior a la cirugía, el paciente se encuentra asintomático. Se presentó un caso de TMVNP originado en un paciente con NF1, presentación que generalmente cursa con peor pronóstico, además se realizo una breve revisión de los aspectos más relevantes de esta enfermedad, algunos de los cuales han tenido un avance vertiginoso en años recientes.

The malignant peripheral nerve sheath tumor (MPNST) is a malignant neoplasm originated in the Schwan cells of the periferic nerves sheath. We describe a case of a man with Neurofibroatosis Type 1 (NF1), who developed a low grade MPNST, and subsequent to a discussion of this disease. 28-year-old Man with pleuritic pain in the left hemithorax, dyspnea and weight loss, with a previous diagnosis of NF1, from the age of 15 and a family history of NF1. At chest examination the patient had an intense thoracic kyphosis, with a decline in the ventilation of the inferior two thirds of the left hemithorax, where a dull sound to percusión was also found. The chest X rays showed a large radiopaque and well delimited mass in the posterior mediastinum, that pushed the cardiovascular structures to the anterior region, which was also documented by chest computed tomography (CT). In view of the above, a puncture biopsy was performed with thick needle guided by CT, from where a malignant mesenhymal neoplasm was identified. It was decided to perform the resection of the tumor of the left posterior mediastinum, by left posterior lateral thoracotomy, in which a large mass of 8x9x9 cm was obtanied, with irregular external surface, brown-violet, and firm. The histopathological and inmunophenotypic study concluded the diagnosis of MPNST in the posterior mediastinum grade 1. Following surgery the patient was asymptomatic. We present a case of MPNST which originated in a patient with NF1, who would usually have a worse prognosis. A brief review of the more relevant aspects of this disease was also reported, some of which have shown important progress in recent years.

[Primary malignant solitary fibrous tumor/hemangiopericytoma of the parotid gland]. / Tumor fibroso solitario maligno primario/hemangiopericitoma de la glándula parótida

Solitary fibrous tumor (SFT) was first described in the pleura by Lietaud in 1767; later in 1870, Wagner described the localized nature of this type of tumor and Klemperer and Rabin classified pleural tumors into two types: diffuse mesotheliomas and localized mesotheliomas. Recent years have seen the redefinition of this neoplasm, due to better technology; it is now proven that this neoplasm may have multiple different extrapleural origins including the head and neck regions. This diversity of locations is related to the particular mesenchymal histogenesis of SFT which allows its development from very unusual sites such as the salivary glands (SGs). In this particular site, this neoplasm is very infrequent and most of reported cases refer to benign disease, with just one case informed so far of primary malignant SFT.

Primary yolk sac tumor of the urachus.

INTRODUCTION: Neoplasms originating from the urachus are rare. The most common urachal malignancy is adenocarcinoma, whereas extragonadal germ cell tumors, primarily of the urachus, are an extremely rare finding. OBJECTIVE: To describe a primary yolk sac tumor (YST) of the urachus in an adult. CASE REPORT: A 44-year-old woman presented with 6 months of pelvic pain associated with a sensation of progressive mass growth. At the time of tumor resection, the tumor was found to be attached by a pedicle to the dome of the bladder, with no injury to the adjacent organs. Pathological study showed a neoplasm with epithelioid cells, pseudocysts, a myxomatous background, and Schiller-Duval body formations. Immunohistochemistry stains showed positivity to AE1/AE3, α-1-fetoprotein, and α-1-antitrypsin and negativity to other markers. CONCLUSION: An unusual case of a YST in the urachus is presented. This is the first reported adult case based on the authors' bibliographic search.

Early age renal synovial sarcoma.

OBJECTIVE: We report a primary renal Synovial Sarcoma (SS) case and analyze its features. METHOD: A 15 year old male presented with left abdominal mass and weight loss. CT scan images showed a 13 cm mass located in the lower pole of the left kidney. Renal biopsy recognized an undifferentiated neoplasm, the immunohistochemistry suggesting the probability of neuroectodermic primitive tumor versus SS. Chemotherapy and radical nephrectomy were carried out. Pathological study showed a big multilobulated necrotic tumor 22 x 13 x 12.5 cm. Histopathological study demonstrated a neoplasm composed by immature cells. Currently, patient has survived 1,8 years. A structured bibliographical search was performed in the Medline, Imbiomed and Scielo databases. RESULTS: The final immunohistochemistry studies gave the diagnosis of poorly differentiated renal SS small cell variety. CONCLUSION: The renal SS is extremely infrequent, with less than 40 cases reported, of which this case reports the earlier age. These tumors, when located in the kidney, represent a great diagnostic challenge that requires adequate clinical, radiological, surgical, and pathological correlation for appropriate diagnosis and treatment.

Testis T-cell lymphoma. Presentation of 2 cases and review.

OBJECTIVE: To present two clinical cases of testicular T cell lymphomas and perform a review of this condition. METHODS/RESULTS: Case 1. Forty-two year old male presenting with painful mass in the right testicle which appeared 2 months earlier. Testicular ultrasound showed diffuse increase in size of the testicle, with alteration in its echogenicity. The patient underwent orchidectomy, and based on histopathological and immunohistochemical tests, a peripheral nonspecific T cell lymphoma was diagnosed. Case 2. Forty-four year old male who presents with a 3 month history of left testicular enlargement without pain associated with reddish-brown macular lesions in the thigh and back and subsequent involvement of the right side of the scrotum. The ultrasonography showed testicles with increased size, with echogenicity altered diffusely. Left orchidectomy was performed and sent for histopathological and Immunophenotypic study which revealed a non-Hodgkin peripheral T cell lymphoma. CONCLUSION: T cell lymphomas involve the testis infrequently, which deserve special attention because of the poor prognosis and the need to make an appropriate diagnosis which could lead to a better therapeutic strategy.

Condroblastoma pélvico / Pelvic Chondroblastoma

Este artículo describe el caso de una mujer de 24 años de edad con un condroblastoma de localización pélvica, con una masa a la altura de la cresta iliaca derecha, de seis meses de evolución y crecimiento progresivo. Los rayos X mostraron una lesión osteolítica con densidad heterogénea y extensión hacia los tejidos blandos; el estudio histopatológico evidenció un condroblastoma. Los condroblastomas son tumores óseos benignos productores de cartílago que aparecen en las epífisis de los huesos largos de personas jóvenes. Alrededor del 75% de estos tumores afectan los huesos largos, principalmente el fémur, la tibia y el húmero; excepcionalmente se localizan en los huesos planos craneofaciales y en los huesos pélvicos. Los condroblastomas tienen características radiológicas e histopatológicas distintivas, y pese a su comportamiento biológico benigno, pueden causar una alta morbilidad para los pacientes, debido a su localización y a su tratamiento exclusivamente quirúrgico.

This article describes the case of a 24-year old woman with a pelvic chondroblastoma localized at the top of the right iliac crest, with six months of evolution and progressive growth. X-rays revealed an osteolytic lesion with heterogeneous density, extending toward soft tissue; the hisopathologic study provided evidence of chondroblastoma. Chondroblastomas are benign bone tumors producers of cartilage which appears in the long bone epiphysis of young people. Nearly 75% of such tumors affect the long bones, principally the femur, the tibia, and the humerus; exceptions include those in the flat craniofacial bones and the pelvis bones. Chondroblastomas have distinct radiological and histopathologic characteristics, and despite their benign biological behavior, can cause elevated morbidity among patients due to their localization and being treated exclusively with surgery.

[Primary prostatic tuberculosis. Case report and bibliographic review]. / Tuberculosis prostática primaria. Presentación de un caso y revisión de la literatura.

OBJECTIVE: Primary prostatic tuberculosis is a very rare form of presentation of the tuberculous infection, which is generally caused by the M. tuberculosis, and which has shown an increase in incidence and prevalence, due to an increase of immunocompromised patients and the pandemic of the Syndrome of Acquired Immune Deficiency (AIDS).We describe a case of primary prostatic tuberculosis attended at the Hospital Universitario de Santander, Colombia, and to perform a discussion about this topic. METHODS/RESULTS: 65 year old man who consulted with symptoms of frequency, dysuria and hesitancy, and 10 Kg weight loss in the last 6 months, without pulmonary symptoms and negative ELISA test for HIV. On physical examination there was evidenceof the presence of a high volume, irregular and hard prostatic gland. That is why a prostatic Doppler ecography was performed showing a prostatic volume of 39 cm3, without sign of malignity. Biopsy of the prostatic gland showed multiple granulomas and the ZN staining was positive for mycobacteria. With these findings the diagnosis of primary prostatic tuberculosis was established, and treatment was carried out and now the patient is asymptomatic with no evidence of active tuberculosis. CONCLUSIONS: Primary prostatic tuberculosis without history or evidence of commitment of the immune system is a very rare condition, nevertheless, it is particularly important to know it due to the progressive increase of its presentation and the possibility of a curative treatment to affected patients.

Sarcoma sinovial digital / Digital Synovial Sarcoma

El sarcoma sinovial es una entidad bien definida clínica y morfológicamente y, a pesar de su nombre, es muy raro en las cavidades articulares. Este sarcoma afecta zonas sin relación aparente con las estructuras sinoviales y representa entre el 5% y el 10% de todos los sarcomas de los tejidos blandos. Se encuentra con mayor frecuencia en las extremidades, especialmente en las inferiores, donde tiende a localizarse en la vecindad de las grandes articulaciones; se han informado muy pocos casos de sarcomas sinoviales en las manos o los pies, con una evolución clínica favorable. Así mismo, es más frecuente de 15 a 40 años de edad (con una edad media de 34 años). Este artículo presenta el caso de una mujer adulta a quien se le realizó el diagnóstico histopatológico e inmunohistoquímico de un sarcoma sinovial en el quinto dedo de la mano derecha.

Synovial sarcoma is a clinically and morphologically well defined entity which, in spite of its name, is rare in joint cavities. This sarcoma affects zones without any apparent relation to synovial structures and represents from 5% to 10% of all sarcomas in soft tissues. It is most frequently found in the extremities, especially the lower ones, where it tends to be located in the vicinity of the major articulations; there are very few favorable reports on the clinical evolution of synovial sarcomas in the hands or feet. It is most frequent between the ages of 15 to 40 (median age, 34). This article presents the case of an adult woman who underwent histopathologic and immunohistochemical diagnosis of a synovial sarcoma on the little finger of her right hand.

[Evaluation of endoscopic visualisation for identifying premalignant gastric lesions in a Columbian population using histopathology as a reference]. / Evaluación de la visualización por endoscopia en la identificación de lesiones gástricas premalignas en una población colombiana con prueba de referencia histopatológica.

AIM: To evaluate the performance of endoscopic visualization in the identification of premalignant gastric lesions, with histopathological examination of biopsy samples as a reference test, in Bucaramanga, Colombia. LOCATION: League for the Fight Against Cancer, Bucaramanga, Colombia. DESIGN: Diagnostic technology evaluation with cross-sectional sampling. MEASUREMENTS: We calculate the sensitivity, specificity, positive predictive value, negative predictive value, likelihood ratio (+), likelihood ratio (-), kappa index and the prevalence rate kappa. RESULTS: A total of 155 patients were studied, with a mean age of 45.43 (14.15) years and an approximate male:female ratio of 2:1. The endoscopic visualization had a sensitivity of 87.84%, a specificity of 55.56%, a positive predictive value of 64.36%, a negative predictive value of 83.33%, a likelihood ratio+of 1.98, a likelihood ratio-de 0.22 and a kappa index of 0.4272, in the identification of preneoplastic lesions of the stomach in a population with a disease prevalence of 47.74%. CONCLUSIONS: The endoscopic visualization of the gastrointestinal mucosa, allows a moderate and fast identification of early preneoplastic lesions, providing an opportunity of its early histopathological diagnosis.

[Evaluation of fine needle aspiration cytology in the diagnosis of cancer of the parotid gland]. / Evaluación de la citología por punción-aspiración con aguja fina en el diagnóstico de cáncer de la glándula parótida.

BACKGROUND: Fine needle aspiration (FNA) is commonly used in the study of neoplastic lesions of the parotid gland, however controversy exists regarding its diagnostic accuracy. OBJECTIVE: To evaluate the performance of FNA biopsy as compared to open surgical biopsy in the diagnosis of carcinoma of the parotid gland. MATERIAL AND METHOD: Forty-six patients with parotid masses from 7 health centres in Bucaramanga, Colombia were identified and included in the study. All patients underwent FNA and open surgical biopsy, with the latter considered the diagnostic gold standard. The FNA and final surgical histopathology were interpreted as either positive or negative for malignancy by pathologists blinded to the FNA outcome. Only standard histological stains were used. The data were compared in a contingency table and analyzed statistically to determine the accuracy of FNA to predict the surgical pathology according to standard measures. RESULTS: The mean age of patients was 52 +/- 16 years old and 59 % were female. Using FNA, 18 % of the initial diagnoses were found to be erroneous at final pathology. FNA had a sensitivity of 0.54, a specificity of 0.90, a PPV of 0.70, an NPV of 0.83, an LR+ of 5.92, an LR of 0.5, and kappa of 0.48 in the identification of parotid gland carcinoma from referral population with a disease prevalence of 28.3 %. CONCLUSIONS: In line with other previous studies, FNA biopsy alone was unreliable to diagnose parotid gland carcinoma. Its low sensitivity and LR indicates its limitations as a screening test; in addition its low kappa shows a modest correlation to the eventual diagnosis. Therefore, further critical examination of techniques and interpretation of parotid FNA are recommended. The development of new methods allowing a valid and precise diagnosis of this pathology and that, like the FNA, have low cost and ease of application is recommended.

[Congenital anomalies of thymic origin in the neck]. / Anomalías congénitas de origen tímico en el cuello.

RATIONALE: A symptomatic mass in the thymus is due to anomalies in the development of the pharyngeal pouches and is also an unusual cause of consultation. These anomalies may be found anywhere along the natural path of the embryonic thymus, from the angle of the jaw to the upper mediastinum. AIM: To review the epidemiology, pathogenesis, diagnosis, and management of congenital anomalies of thymic origin in the neck. MATERIAL AND METHOD: A MEDLINE search was carried out, using the Cochrane methodology, for articles published from January 1980 to January 2007 using the terms "thymus gland," "cervical mass." Following this bibliographical search, the texts considered most relevant by the authors were selected. CONCLUSIONS: While this anomaly is relatively common, its level of presentation is very low and it should always be considered in the differential diagnosis of congenital masses in the neck. New diagnostic imaging techniques provide an early and more accurate diagnosis, thus allowing a better outcome in these patients.

[Bellini collecting duct renal carcinoma: case report]. / Carcinoma renal de los túbulos colectores de Belunin: presentación de caso clínico patológico.

OBJECTIVE: The collecting duct carcinoma (Bellini's carcinoma) is an unfrequent lesion; its macro and microscopic characteristics can help diagnosis. 65-year-old Colombian woman presenting left-flank and hypochondrio stub-type episodic pain associated with hematuria, nausea and weight loss. RESULTS: The diagnosis was of collecting duct carcinoma. CONCLUSIONS: The clinical characteristics, macrocospic features, histology and immunohistochemistry are analyzed; we also perform a bibliography review.

Cáncer de colon y recto: [revisión] / Cancer of colon and recto: [review]

Justificación: el cáncer de colon y recto es la tercera neoplasia más frecuente en el mundo, en la cual se han presentado notables avances en el tamizaje, diagnóstico y tratamiento. Objetivo: realizar una revisión de los avances en la epidemiología, diagnóstico y terapéutica del cáncer de colon y recto. Metodología de búsqueda: se realizó una búsqueda en Medline, según la metodología Cochrane, de artículos publicados desde enero de 1980 a enero de 2006 usando los términos colorectal carcinoma; de esta búsqueda se seleccionaron los manuscritos considerados relevantes por parte de los autores. Conclusiones: se han producido notables avances en el diagnóstico precoz, y tratamiento del cáncer de colon y recto lo cual se traduce en un mejor pronóstico para los pacientes afectados por esta patología...

Justification: colorectal cancer is the third most frequent neoplasm in the World, which have had notable advances in screening, diagnosis and treatment. Objective: a revision of epidemiology, diagnosis and therapeutic advances of colorectal cancer was made. Materials and Methods: following Cochrane´s methodology, a Medline research of articles published between January of 1980 and January of 2006 was made, using the words colorectal carcinoma; the articles considered relevants by the autors were selected of this research. Conclusions: notable advances have been developed in early diagnosis and treatment of colorectal cancer, which traduces in a better prognosis for the patients afected by this disease...

Sepsis by Chromobacterium violaceum: first case report from Colombia

Chromobacterium violaceum is found in tropical and subtropical regions; it is the only Chromobacterium species pathogenic for humans. Due to its rare presentation, physicians often ignore the importance of this pathogen. We report a fulminant fatal case of bacteremia in a 38-year-old Colombian man. The clinical manifestations were fever, thoracic pain, respiratory failure and death. His condition, from the beginning of clinical diagnosis, went into continuous deterioration, till his death, within a few days after the symptoms began. Two hemocultures isolated C. violaceum. We conclude that doctors should consider this differential diagnosis in patients with systemic inflammatory response syndrome, with continuous deterioration.