Advanced-stage mycosis fungoides: role of the signal transducer and activator of transcription 3, nuclear factor-κB and nuclear factor of activated T cells pathways.

BACKGROUND: The malignant mechanisms that control the development of cutaneous T-cell lymphoma (CTCL) are beginning to be identified. Recent evidence suggests that disturbances in specific intracellular signalling pathways, such as RAS-mitogen-activated protein kinase, T-cell receptor (TCR)-phospholipase C gamma 1 (PLCG1)-nuclear factor of activated T cells (NFAT) and Janus kinase (JAK)-signal transducer and activator of transcription (STAT), may play an essential role in the pathogenesis of CTCL. OBJECTIVES: To investigate the mechanisms controlling disease development and progression in mycosis fungoides (MF), the most common form of CTCL. METHODS: We collected 100 samples that were submitted for diagnosis of, or a second opinion regarding, MF between 2001 and 2018, 80% of which were in the early clinical stages of the disease. Formalin-fixed paraffin-embedded tissues were used for histological review and to measure the expression by immunohistochemistry of surrogate markers of activation of the TCR-PLCG1-NFAT, JAK-STAT and NF-κB pathways. Folliculotropism and large-cell transformation were also examined. RESULTS: NFAT and nuclear factor kappa B (NF-κB) markers showed a comparable activation status in early and advanced stages, while STAT3 activation was more frequent in advanced stages and was associated with large-cell transformation. Consistently with this observation, STAT3 activation occurred in parallel with MF progression in two initially MF-negative cases. A significant association of NFAT with NF-κB markers was also found, reflecting a common mechanism of activation in the two pathways. Genomic studies identified nine mutations in seven genes known to play a potential role in tumorigenesis in T-cell leukaemia/lymphoma, including PLCG1, JAK3 and STAT3, which underlies the activation of these key cell-survival pathways. A higher mutational allele frequency was detected in advanced stages. CONCLUSIONS: Our results show that STAT3 is activated in advanced cases and is associated with large-cell transformation, while the activation of NFAT and NF-κB is maintained throughout the disease. These findings could have important diagnostic and therapeutic implications. What's already known about this topic? Mycosis fungoides is characterized by a clonal expansion of T cells in the skin. The mechanisms controlling disease development and progression are not fully understood. What does this study add? An association of the nuclear factor of activated T cells and nuclear factor kappa B pathways was found, which could reflect a common mechanism of activation. These pathways were activated in early and advanced stages at the same level. Signal transducer and activator of transcription 3 activation was associated with large-cell transformation and was more frequent in advanced stages. A genomic analysis of cutaneous T-cell lymphoma-associated genes was performed. Nine mutations were detected. What is the translational message? These results could have important implications for the treatment of MF in the near future.

Placa facial y nódulos en cuero cabelludo / A Facial Plaque and Nodules on the Scalp

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Efficacy of IgE-targeted vs empiric six-food elimination diets for adult eosinophilic oesophagitis.

BACKGROUND: Skin testing-guided elimination diet has proved unsuccessful for adult eosinophilic oesophagitis (EoE), whereas empiric six-food elimination diet (SFED) achieves an efficacy of 70%. OBJECTIVE: To compare the efficacy of food-specific serum IgE-targeted elimination diet (sIgE-ED) and SFED. METHODS: Prospective study in adult patients with EoE. Food-specific serum IgE, skin prick test (SPT) and atopy patch test (APT) to foods included in SFED were performed. Those with ≥1 positive IgE test, defined by ≥0.1 kU/l, followed a 6-week sIgE-ED, whereas non-IgE-sensitized patients underwent a 6-week SFED. Responders to diet (<15 eos/HPF) underwent individual reintroduction of foods followed by histological assessment. RESULTS: Forty-three EoE patients were included (26 sIgE-ED and 17 SFED). Regarding sIgE-ED, the mean number of eliminated foods per patient was significantly lower than in SFED (3.81 vs 6; P < 0.001), being wheat (85%), nuts (73%) and cow's milk (61%) the most commonly foods withdrawn. No difference in histological response was observed between sIgE-ED and SFED (73% vs 53%, P = 0.17). Causative foods identified by food challenge were cow's milk (64%), wheat (28%), egg (21%) and legumes (7%), with a single food trigger in 71% of patients. sIgE exhibited the higher accuracy to predict offending foods in IgE-sensitized patients (sensitivity 87.5%, specificity 68% (κ = 0.43)), with k values of 1 for cow's milk. APT results were all negative. CONCLUSIONS: Histological remission was accomplished in 73% of patients undergoing sIgE-ED, which was nonsignificantly superior to SFED. sIgE effectively identified cow's milk as a food trigger in IgE-sensitized patients.

[Predictive factors of eosinophilic esophagitis in esophageal food bolus impaction]. / Factores predictores de esofagitis eosinofílica en impactación esofágica por bolo alimenticio.

BACKGROUND: Food bolus esophageal impaction is often the first symptom in patients diagnosed with eosinophilic esophagitis, representing a change in the epidemiology and management of this urgency. AIM: To detect eosinophilic esophagitis predictive factors in patients with esophageal impaction due to food bolus. METHODS: Patients seen for foreign body impaction were retrospectively analyzed. Epidemiologic characteristics, endoscopic findings, and impaction history were studied. The statistical analysis was carried out using the Student's t test and the chi square test and a logistic regression model. RESULTS: Of the 131 patients, 65% were men and the mean age was 56 years. The endoscopic suspicion of eosinophilic esophagitis was the most frequent finding in patients with food bolus impaction (n=89); those patients that did not have histologic confirmation were excluded (n=7). The remaining patients (n=82) were divided into two groups: confirmed eosinophilic esophagitis (Group A) (n=18) and other endoscopic findings (Group B) (n=64). Group A presented with a lower mean age (36.47 vs. 64.45, P=.001) and a more frequent past history of impaction (38% vs. 6%, OR=15.70, 95% CI (3.60-62.50), P=.001) than Group B. Age and impaction history acted as predictors for eosinophilic esophagitis with 82% sensitivity, 80% specificity, and 84% diagnostic accuracy (P<.001). CONCLUSIONS: Age and a history of impaction predict the presence of eosinophilic esophagitis in patients with food bolus impaction.

Múltiples pápulas vulvares / Multiple vulvar papules

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Algunas observaciones sobre eltrabajo "oncocitoma renal:una forma infrecuente de presentación" / Some comments regarding the paper "Renal oncocytoma: an infrequent presentation"

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Schwannoma vulvar / Vulvar Schewannoma

El Schwannoma es la mayoría de las veces, un tumor benigno procedente de la vaina de un nervio. Raramente afecta los genitales externos femeninos. Describimos un caso de Schwannoma vulvar presentado como un quiste de la glándula de Bartholin y revisamos la literatura (AU)

[Malignant Leydig cell tumor. Report of a case and review of the literature]. / Tumor maligno de células de Leydig. Presentación de un caso y revisión de la literatura.

OBJECTIVE: To report an additional case of malignant Leydig cell tumor of the testis. The clinical, hormonal and histological criteria for malignancy are analyzed and the different therapeutic options are discussed. METHODS/RESULTS: A 75-year-old male presented with a painful testicular tumor, dyspnea and generalized syndrome. The chest film showed multiple bilateral metastatic pulmonary lesions. Pathological analysis disclosed malignant Leydig cell tumor. The patient died one month after orchidectomy due to the neoplasm. CONCLUSIONS: Metastatic Leydig cell tumor is uncommon. To date, no available treatment can significantly alter the course of the disease.

[Primary carcinoma of the male urethra. Report of a case and review of the literature]. / Carcinoma primario de uretra masculina. Aportación de un caso y revisión de la literatura.

Contribution of one case of epidermoid carcinoma of the urethra in a 47-year old male with a several years old urethral stenosis. The significance of urethroscopy and the obtention of biopsies for diagnosis is emphasised. Also a review is made of the existing literature on the different therapeutical alternatives.

[New contributions to the study of chromophobe-cell renal carcinoma]. / Nuevas aportaciones en el estudio del carcinoma renal de células cromófobas.

OBJECTIVE: The present study describes a case of the recently discovered chromophobe cell carcinoma of the kidney. Additional findings that have not been previously reported are presented and the importance of the clinical and anatomopathological diagnosis of this tumor type is underscored. METHODS: The tumor presented in a 72-year-old female with symptoms and signs that were not distinct from those of other more common renal tumors. She underwent a right radical nephrectomy. Histopathological, immunohistochemical and ultrastructural studies were performed and the findings were compared with those reported in the literature. RESULTS: The foregoing studies disclosed a chromophobe cell renal carcinoma, with some findings-chiefly ultrastructural-that have not been previously described. CONCLUSION: Chromophobe cell renal carcinoma, a tumor type that has recently been identified, is the subject of several studies that have been conducted to permit its clinical and anatomopathological characterization. The present study describes some observations which, to our knowledge, have not been previously described elsewhere.

[Tumors originating in the muscularis mucosae of the recto-sigma]. / Tumores originados en la muscularis mucosae del recto-sigma.

Tumours arising from the muscular layer of the bowel are uncommon and extremely rare when localized in colon and rectum. Most of them arise from the external muscular layer or muscularis propria. Tumours originating in muscularis mucosae or in the vascular system are uncommon. Two hundred rectal leiomyomas and leiomyosarcomas have been described. Tumours originated in the muscularis mucosae are polypoid, pedunculated, benign and most of them will be treated by a polypectomy without recurrence. However leiomyomas arising from the muscularis propia have a 60% of recurrence after local treatment and in some cases the recurrence will be a metastatic leiomyosarcoma. Three tumours arising from muscularis mucosae of the rectum and sigma are presented. All three were diagnosed and removed by colonoscopy. Two were diagnosed as leiomyomas. The third was a low grade leiomyosarcoma and an anterior resection was performed as definitive treatment.

[Primary choriocarcinoma of the bladder. A case report with immunohistochemical and ultrastructural study]. / Coriocarcinoma primario de vejiga urinaria. Aportación de un caso con estudio inmunohistoquímico y ultraestructural.

Some tumors frequently encountered in other organs and usually with a high grade of malignancy and a poor prognosis have been recently described in the urinary bladder, very often in close relationship with a pre-existing transitional cell carcinoma. Of these, primary choriocarcinoma of the urinary bladder is one of the most uncommon and its histogenesis much discussed. It is important to identify this tumor type, since a change in the oncologic treatment may be warranted. We report an additional case of this rare bladder tumor with clinicopathologic study and discuss the histogenetic and therapeutic aspects.

[Report of a new case of small cell carcinoma of the oat-cell type in the bladder and review of the literature]. / Aportación de un nuevo caso de carcinoma de células pequeñas tipo "oat cell" de localización vesical y revisión de la literatura.

We report an additional case of small cell carcinoma of the bladder with oat cell features in a 67-year-old male patient. This tumor, recently described at this site, has clinico-pathological features that make it distinct from other bladder tumors. Histologically, it closely resembles its pulmonary counterpart with positive results for epithelial markers and neuroendocrine differentiation. The latter has been confirmed by the observation of the typical neurosecretory granules at ultrastructural level. It generally presents in the elderly male patients. It is extremely aggressive and responds poorly to the commonly used treatment. The histogenesis of this rare tumor of the bladder has, as yet, not been elucidated. The different hypotheses that have been put forward are discussed.