The Use of Liquid Biopsy in the Molecular Analysis of Plasma Compared to the Tumour Tissue from a Patient with Brain Metastasis: A Case Report.

Different cancers have multiple genetic mutations, which vary depending on the affected tumour tissue. Small biopsies may not always represent all the genetic landscape of the tumour. To improve the chances of identifying mutations at different disease stages (early, during the disease course, and refractory stage), liquid biopsies offer an advantage to traditional tissue biopsy. In addition, it is possible to detect mutations related to metastatic events depending on the cancer types analysed as will be discussed in this case report, which describes a patient with brain metastasis and lung cancer that harboured K-RAS mutations both in the brain tumour and in the ctDNA present in the bloodstream.

Solitary fibrous tumour of the oral cavity: An update.

BACKGROUND: Solitary fibrous tumour is an unusual neoplasm of the oral cavity that is sometimes not clinically distinguishable from other lesions. The purpose of the present study was to review the clinical, microscopic and molecular aspects of malignant and benign solitary fibrous tumour of the oral cavity currently available in literature. METHODS: For our review, an electronic search was performed using PubMed, Scopus, Ovid/MedLine, Web of science and ProQuest Dissertations and Theses Global database. RESULTS: A total of 74 publications reporting 150 cases were included. Oral solitary fibrous tumours are most frequently described as submucosal, well-circumscribed, asymptomatic nodule, more prevalent in females in their fourth to fifth decades of life. Buccal mucosa is the most commonly affected site by the benign tumour variant, whereas the tongue is the most common location affected by the malignant form of the neoplasm. Most of the lesions were treated by conservative surgery. One recurrent malignant tumour and one metastasis are reported. CONCLUSION: Asymptomatic normal-coloured submucosal nodules located in the buccal mucosa and tongue in adult patients are suggestive of oral solitary fibrous tumour, but only a careful microscopic examination can differentiate benign from malignant variants and the use of immunohistochemistry (CD34, Bcl-2, CD99 and STAT6), and cytogenetic studies (NAB2-STAT6) contribute significantly to confirm the diagnosis of solitary fibrous tumour in difficult cases.

Intraaxial and Extraaxial Cavernous Malformation with Venous Linkage: Immune Cellular Inflammation Associated with Aggressiveness.

BACKGROUND: Intraorbital and intracerebral cavernous malformation (CM) lesions are considered independent entities. Purely cerebral CMs have variable biology with recent evidence depicting inflammation as an important player and a risk factor for aggressiveness. We describe a case of concomitant left intraaxial and extraaxial CMs, linked by the ipsilateral basal vein, where the extraaxial component has developed an aggressive behavior. CASE DESCRIPTION: A 35-year-old female patient presented with a rapid and progressive exophthalmos and loss of vision on the left eye. Cranial magnetic resonance and angiography examinations demonstrated a left craniofacial CM and large intraorbital component. The lesion was connected through a large basal vein to a cerebral intraventricular CM. Transconjunctival resection showed typical findings of CM. A complete histopathology and immunostaining analysis was performed and revealed a clear acute lymphomononuclear reaction with a predominant immune cellular inflammation. CONCLUSIONS: A case of intraorbital and extracranial cavernomatous mass, connected to a cerebral intraventricular CM through a large basal vein, has presented with an aggressive course. A complete histopathologic and immunohistochemical analysis of the orbital mass has pictured a clear immune-cellular inflammatory reaction adding to the amounting evidence of association between inflammation and site aggressiveness in the setting of CMs.

Oral and maxillofacial metastasis of male breast cancer: Report of a rare case and literature review.

Oral and maxillofacial metastatic tumors are uncommon, with the breast, prostate, lung, and kidney representing the most common primary sites. Less than 1% of all breast cancers occur in male patients, and to date, only 8 cases of metastatic breast adenocarcinoma to the oral and maxillofacial region in a male patient have been reported in the literature. An 88-year-old male with previous history of a successfully treated primary breast adenocarcinoma 12 years earlier was referred for evaluation of an oral swelling lasting 6 months. Intraoral examination revealed a 2-cm reddish, pedunculated nodule with a smooth surface located in the left retromolar region. Imaging revealed maxillary sinus involvement. The patient underwent incisional biopsy, and microscopic evaluation revealed invasive tumor islands compounded by malignant epithelial cells, sometimes exhibiting ductal arrangement, which were positive for the estrogen receptor and gross cystic disease fluid protein 15. The final diagnosis was metastatic breast adenocarcinoma. Breast metastases are exceedingly rare in the oral and maxillofacial region of male patients; however, clinicians should consider breast metastasis when evaluating reddish oral nodules in older patients, including men, especially those with a history of malignancy.