ABSTRACT
INTRODUCTION AND IMPORTANCE: Hibernomas are benign soft tissue tumors containing prominent brown adipocytes that resemble normal brown fat, they occur in a wide age range (from 2 to 75 years) and make up for about 1 % of all adipocytic tumors <2 % of benign fatty neoplasms. They have traditionally been regarded as benign tumors with no potential for malignancy; due to their similarity in clinical and radiographical presentation, they are often misdiagnosed as malignant tumors like liposarcomas. While these tumors are generally considered non-malignant, their distinctive characteristics and uncommon occurrence make them an intriguing subject for medical study. CASE PRESENTATION: This article describes the clinical, radiographic, and histologic features of a young patient with a thigh hibernoma compressing the obturator nerve. CLINICAL DISCUSSION: Hibernomas are more likely to develop in brown fat-enriched areas in newborns, such as the neck, scapular area, armpit, chest, and retroperitoneum. Increased awareness among clinicians and pathologists, coupled with advances in imaging and immunohistochemistry, has enhanced our ability to accurately identify and treat these intriguing tumors. CONCLUSION: The rarity of hibernomas together with the close resemblance of their radiological features to those of malignant tumors like liposarcomas or atypical lipomatous tumors, make these lesions extremely difficult to identify and often misdiagnosed. Continued research is essential to further our understanding this neoplasm and refine diagnostic and therapeutic approaches.
ABSTRACT
Malignant mesothelioma (MM) is a rare aggressive neoplasm arising from mesothelial lining of body cavities, most commonly pleura and peritoneum. It is characterised by a poor prognosis and limited treatment options. A universally recognised risk factor for the development of MM is exposure to asbestos. However, evidence supporting a genetic susceptibility to the development of MM has been accumulating during the last decades. Intensive research for the identification of MM susceptibility genes has led to the discovery of BAP1 and to the definition of the so-called "BAP1-related tumour predisposition syndrome". Patients carrying germline BAP1 mutations have an increased risk for the early development of tumours, including MMs, uveal melanomas, cutaneous melanocytic lesions, clear cell renal cell carcinomas and basal cell carcinomas. Furthermore, pathogenic variants in tumour suppressor genes with a role in DNA repair have been recently described in families with clustered MM cases. These genetic alterations seem to confer exaggerate sensitivity to asbestos carcinogenic effect and, arguably, increased response to specific chemotherapeutic strategies. While the translational significance of BAP1 alterations is explored in the research field, the identification of families carrying germline BAP1 mutations is mandatory to start appropriate surveillance programs and guarantee the best clinical management to these patients.
Subject(s)
Genetic Predisposition to Disease , Mesothelioma, Malignant/genetics , Tumor Suppressor Proteins/genetics , Ubiquitin Thiolesterase/genetics , Aged , Female , Germ-Line Mutation , Humans , Male , Mesothelioma, Malignant/epidemiology , Mesothelioma, Malignant/pathology , Middle AgedABSTRACT
The pathologist is often called to define the origin of tumors through the help of ancillary studies, mainly immunohistochemical stainings. In this setting, the differential diagnosis between intestinal adenocarcinomas, other tumors with intestinal-type morphology, and adenocarcinomas metastatic to the bowel can be particularly difficult. In such cases, an accurate assessment of the disease is required to address the patients to the optimal treatment. Immunohistochemistry offers the use of multiple antibodies: the integrated evaluation of specific stainings can lead to a correct diagnosis. Particularly, the use of cytokeratins, mucins, and ß-catenin could be of great help in most cases. In addition, recently, novel specific markers such as SATB2 and AMACR have been introduced, improving the utility of immunohistochemistry in the differential diagnosis of intestinal-type and intestinal adenocarcinomas.
Subject(s)
Adenocarcinoma/diagnosis , Biomarkers, Tumor/analysis , Immunohistochemistry , Intestinal Neoplasms/diagnosis , HumansABSTRACT
BACKGROUND: Mycosis fungoides (MF) is the major subtype of cutaneous T-cell lymphomas (CTCL). It usually has a prolonged indolent clinical course with a minority of cases acquiring a more aggressive biological profile and resistance to conventional therapies, partially attributed to the persistent activation of nuclear factor-kappa B (NF-κB) pathway. In the last decade, several papers suggested an important role for the FK506-binding protein 51 (FKBP51), an immunophilin initially cloned in lymphocytes, in the control of NF-κB pathway in different types of human malignancies. OBJECTIVES: We aimed to investigate the possible value of FKBP51 expression as a new reliable marker of outcome in patients with MF. METHODS: We assessed by immunohistochemistry (IHC) FKBP51 expression in 44 patients with MF, representative of different stages of the disease. Immunohistochemical results were subsequently confirmed at mRNA level with quantitative PCR (qPCR) in a subset of enrolled patients. In addition, IHC and qPCR served to study the expression of some NF-κB-target genes, including the tumour necrosis factor receptor-associated factor 2 (TRAF2). RESULTS: Our results show that FKBP51 was expressed in all evaluated cases, with the highest level of expression characterizing MFs with the worst prognosis. Moreover, a significant correlation subsisted between FKBP51 and TRAF2 IHC expression scores. CONCLUSIONS: We hypothesize a role for FKBP51 as a prognostic marker for MF and suggest an involvement of this immunophilin in deregulated NF-κB pathway of this CTCL.
Subject(s)
Mycosis Fungoides/metabolism , RNA, Messenger/metabolism , TNF Receptor-Associated Factor 2/metabolism , Tacrolimus Binding Proteins/metabolism , Adult , Aged , Aged, 80 and over , Biomarkers/metabolism , Dermatitis/metabolism , Female , Humans , Immunohistochemistry , Male , Middle Aged , Mycosis Fungoides/genetics , Prognosis , Skin/metabolism , TNF Receptor-Associated Factor 2/genetics , Tacrolimus Binding Proteins/genetics , Thymus Gland/metabolismABSTRACT
The modifications of the stoichiometry, morphology and surface structure of cerium oxide ultrathin films induced by thermal treatments under vacuum and oxygen partial pressure were studied using in situ X-ray photoemission spectroscopy, scanning tunnelling microscopy and low energy electron diffraction. The effect of the film nominal thickness, heating temperature and heating time on the degree of reduction of the film was investigated. The reduction is more relevant on the film surface, where different ordered surface structures were observed at different degrees of reduction for very thin films. The obtained results are discussed taking into account the dimensionality of the oxide and the effects of the proximity of the Pt substrate. After reduction it was always possible to re-oxidize the films back to their original oxidation state by thermal treatment under oxygen-rich conditions.