Melanotic Xp11 translocation renal cancer: report of a case with a unique intratumoral sarcoid-like reaction.

BACKGROUND: Melanotic Xp11 translocation renal cancer is a rare tumor belonging to the family of microphthalmia-associated transcription factor (MiTF)/transcription factor E (TFE) neoplasms. This tumor family also includes alveolar soft part sarcoma, perivascular epithelioid cell neoplasms, Xp11 translocation renal cell carcinoma, and melanoma. To date, six confirmed melanotic Xp11 translocation cancers (five renal, one ovarian) have been reported in the literature. CASE REPORT: Here, we report the clinical, histologic, immunohistochemical, and molecular features of a unique melanotic Xp11 translocation renal cancer arising in a 34-year-old African-American female. Histologically, the tumor was composed of epithelioid tumor cells arranged in a nested pattern. The cells had clear to eosinophilic granular cytoplasm, vesicular nuclear chromatin, and prominent nucleoli. Multifocal intracytoplasmic deposits of granular brown melanin pigment were identified and confirmed by Fontana-Masson stain. An unusual histologic feature, not previously reported in melanotic Xp11 translocation renal cancer, was a sarcoid-like granulomatous reaction consisting of tight epithelioid granulomas with lymphocytic cuffing, numerous giant cells, and calcifications. Nuclear transcription factor E3 expression was identified by immunohistochemistry and TFE3 rearrangement was confirmed by fluorescence in situ hybridization. Additional immunohistochemical findings included immunoreactivity for HMB45, cathepsin K, and progesterone receptor; negative staining was seen with actin, desmin, cytokeratins, epithelial membrane antigen, CD10, vimentin, and PAX-8. The patient is currently free of disease, two years following initial clinicoradiologic presentation and twenty-two months following partial nephrectomy without additional therapy. CONCLUSION: This report further expands the spectrum of morphologic and clinical findings previously described in melanotic Xp11 translocation renal cancer, a distinctive tumor showing overlapping features between Xp11 translocation renal cell carcinoma, melanoma, and perivascular epithelioid cell neoplasms. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/7225796341180634.

Cytogenetic and comparative genomic hybridization studies of an esophageal giant fibrovascular polyp: a case report.

Esophageal giant fibrovascular polyps are rare and are thought to represent redundant tumorlike or hamartomatous esophageal folds. Although most patients present with slowly evolving dysphagia, a minority present with acute respiratory distress or even death caused by asphyxia. We present the pathologic and cytogenetic findings of an 18-cm esophageal giant fibrovascular polyp in a 49-year-old woman who presented with odynophagia and dysphagia. The histologic findings are that of classic esophageal giant fibrovascular polyp as previously described in the literature. Cytogenetic study revealed an abnormal karyotype, and comparative genomic hybridization analysis showed regional amplifications of chromosomes 3 and 12 and a possible loss of 22q13.3-qter. The significance of these cytogenetic findings is unclear but may suggest a neoplastic process in the pathogenesis of esophageal giant fibrovascular polyps.

Clarithromycin in adult-onset still's disease: a potentially useful therapeutic.

Adult-onset Still's disease (AOSD), an autoinflammatory syndrome of unknown etiology, typically manifests with spiking fevers, polyarthritis, and characteristic evanescent rash. We describe a young woman with AOSD complicated by calf fasciitis that serendipitously responded to clarithromycin administered for another indication. Remarkable improvement followed rechallenges with clarithromycin for subsequent AOSD flares. In addition to their antibacterial actions, macrolides demonstrate immunomodulatory effects, including suppression of proinflammatory cytokine production and neutrophil action. Previous clinical trials provide promising preliminary evidence of a therapeutic effect of macrolides in chronic inflammatory diseases. Although AOSD pathogenesis remains unclear, a role for dysregulation of innate immunity is supported by recent literature. Based on this possible innate immune mechanism, we suspect that macrolides may have induced a therapeutic response in this patient with AOSD. A clinical trial is warranted to establish or refute their therapeutic efficacy.

Abnormal expression of differentiation related proteins and proteoglycan core proteins in the urothelium of patients with interstitial cystitis.

PURPOSE: Expression of the proteoglycan core proteins biglycan, decorin, perlecan and syndecan-1, and differentiation related markers of keratins 18 and 20 were examined to determine the origins of the loss of the glycosaminoglycan layer and investigate more fully the altered differentiation of the urothelium in interstitial cystitis. MATERIALS AND METHODS: Formalin fixed biopsies from 27 patients with interstitial cystitis and 5 controls were immunohistochemically labeled for the described proteins and scored using a modification of previous scoring for other markers. Inflammation was scored from hematoxylin and eosin stained slides. By combining previous with new data, cluster analysis showed the relationships among the markers and samples. RESULTS: Interstitial cystitis specimens clustered into 4 groups, ranging from most biomarkers abnormal to most biomarkers normal, but all clustered separately from normal controls. One group of interstitial cystitis specimens mainly showed aberrant expression of E-cadherin, which might represent an early abnormality. The biomarkers fell into 2 major groupings. One group consisted of chondroitin sulfate, perlecan, biglycan, decorin and the tight junction protein ZO-1. A second cluster consisted of uroplakin, the epithelial marker keratin 18 and 20, and the morphology of the layer. E-cadherin and syndecan-1 showed little relation to the other 2 clusters or to each other. Inflammation correlated moderately with syndecan-1 but to no other marker. CONCLUSIONS: Findings strongly suggest abnormal differentiation in the interstitial cystitis urothelium with a loss of barrier function markers and altered differentiation markers being independent and occurring independently of inflammation. Loss of the glycosaminoglycan layer was associated with a loss of biglycan and perlecan on the luminal layer.