RESUMO
Amyloidosis is the process of extracellular deposition of protein fibrils and manifests pathologically as a systemic or localized process. Localized amyloidosis of the head and neck is uncommon, and involvement of the sphenoid sinus is exceedingly rare. We describe a case of localized amyloidosis isolated from the sphenoid sinus. A descriptive literature search was conducted to highlight presentation, management, and outcomes related to this pathology. Our patient was a 65-year-old male who presented to our clinic with nasal congestion and an incidental finding of a large expansile mass within the sphenoid sinuses. The mass was seen to displace the pituitary gland, and thus a multidisciplinary care approach ensued. The mass was removed via a transnasal endoscopic approach. Pathology revealed fibrocollagenous tissue with calcifications that were positive on Congo red staining. The patient underwent further workup to rule out systemic involvement, which was unremarkable. Based on the findings of his workup, he was ultimately diagnosed with localized amyloidosis. A comprehensive review of the literature revealed 25 other reported cases of localized amyloidosis within the sinonasal region, with only one other case of isolated sphenoid sinus disease. Common presenting symptoms are nonspecific and may mimic other, more frequently seen regional pathologies, including nasal obstruction, rhinorrhea, and epistaxis. The treatment for localized disease is surgical resection. While localized amyloidosis within the sinonasal region is rare, it is important to recognize, work up, and treat it appropriately. A multidisciplinary team approach is necessary for appropriate diagnosis and management, and these patients should be followed closely after treatment.
RESUMO
Venous aneurysms of the head and neck, and in particular the facial vein, are rare lesions that present as soft, compressible masses. We describe a case of an idiopathic aneurysm of the facial vein. A comprehensive literature review of this entity was conducted to better understand the disease process. A 51-year-old female presented with a one-year history of a prominent but painless right submandibular mass that was more noticeable with maneuvers such as straining. An exam showed a painless, soft, compressible, right level 1b neck mass that enlarged with Valsalva. A computed tomography scan of the neck revealed a 2.7 cm enhancing mass adjacent to the right submandibular gland. Further workup included a direct puncture venography, which demonstrated an unruptured 3 cm venous aneurysm involving the right facial vein. Surgical excision was offered to the patient, which was completed without complications. Histopathology of the mass was consistent with a facial vein aneurysm and confirmed the suspected diagnosis. The patient was seen postoperatively in follow-up and was healing well. While facial vein aneurysms are rare, it is important to recognize, work up, and treat them appropriately. A painless compressible mass that enlarges with Valsalva is suggestive of the diagnosis. Management may vary on a case-by-case basis with surgical resection being the definitive treatment of choice.
RESUMO
Anaplastic thyroid carcinoma (ATC) is a rare type of thyroid neoplasm. However, it is one of the most aggressive forms of malignancy accounting for approximately 50% of mortality associated with all thyroid cancers. Here we report two cases of ATC treated with immune checkpoint inhibitors. Next generation sequencing identified BRAFV600E mutation in one of the patients who also derived benefit from BRAF targeted therapy. We here discuss these cases highlighting the importance of expert pathological review, utilizing molecular testing to identify the underlying genetic targets for personalized therapy, and the potential role of PD-1 inhibitors for the treatment of ATC.
