Introduction: Meningiomas comprises of a wide variety of histological entities with heterogeneous biological behaviour and prognosis. The plethora of genetic data are yet to produce relevant biomarkers for routine use. In contrast, epigenetic alterations are less elucidated. Material and methods: The expression of the key molecules involved in the two principal epigenetic systems, i.e. DNA methylation (DNA methyltransferases [DNMT-1,-3A and-3B]) and histone modification (Enhancer of Zeste homolog-2 [EZH2] and trimethyl histone-3 [H3K27me3]) were assessed in 149 cases of meningiomas (grade I-102, grade II-47) by immunohistochemistry. Results: Immunopositivity for EZH2 (38.3% vs. 6.0%) and negativity for H3K27me3 (10.6% vs. 1.0%) were significantly more common in grade II tumours. Both were associated with significantly higher proliferative activity. The majority of the cases of both grades showed expression of all three DNMTs. However, high expression of DNMT-1 was significantly more common in grade II tumours (87.8% vs. 66.2%). Expression of EZH2 and loss of H3K27me3 were associated with significantly shorter progression-free survival (hazard ratio [HR] = 4.07 and 0.24, respectively). Conclusions: The key epigenetic regulators play important roles in the pathobiology of meningiomas. EZH2 positivity and H3K27me3 negativity are associated with aggressive tumour-biology and poor prognosis. Both these markers can easily be assessed by immunohistochemistry and can be incorporated in routine practice.
Pleomorphic hyalinizing angiectatic tumor (PHAT) is a rare tumor of uncertain tissue origin. Although it has been classified as a benign tumor under the WHO classification, it is locally aggressive, and multiple recurrences have been reported. PHAT commonly involves the lower extremities; however, various unusual sites of origin have been reported.
We present the case of a 30-year-old female with dysmenorrhea, who presented a presacral mass on imaging. The core biopsy confirmed the diagnosis of PHAT. She underwent laparotomy and excision. Histopathology confirmed the presence of a tumor comprised of aggregates of ectatic vessels with perivascular hyalinization. An immunohistochemical study showed diffuse CD34 positivity, but S100, MDM2, and smooth muscle actin negativity. After surgical procedures, the patient is disease free as at the 12-month follow-up.
Only 120 cases have been published in the English literature to date. Our study is only the third case of PHAT arising from the pelvis to be reported. Though considered to be a rare condition, the diagnosis of PHAT should always be considered in the differential diagnosis of well-defined hypervascular soft tissue mass in the pelvis. The typical histopathological findings along with immunohistochemistry should clinch the diagnosis.
Head and neck paraganglioma is a rare disease to encounter in clinical practice and involvement of the base of the tongue in the oropharynx is yet to be described in the current literature. Although various surgical approaches have been described in the literature, transcervical mandibular swing is an effective technique for adequate exposure and complete excision of the oropharyngeal paraganglioma with adequate control on bleeding especially when it is assisted by coblation.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.