Rare Tumors最新文献

Mucoepidermoid carcinoma (MEC) is a common malignancy arising in the parotid gland. The diagnosis of MEC is typically based on its morphological features alone, characteristically containing mucocytes, intermediate cells and epidermoid cells. However, when cystic degeneration is diffuse, it is challenging to distinguish MEC from other benign cystic tumors. This is a case report of a 58-year-old Caucasian man who presented with a parotid mass. H&E sections of the mass reveal multiloculated cysts lined by bland-looking epithelium with only rare papillary architectures. The papillary proliferation contains mucocytes, and epidermoid cells highlighted by the p63 immunohistochemistry study. The diagnosis was confirmed by FISH result of positive MAML2 (11q21) rearrangement. Patient underwent parotidectomy and is disease-free 6 months post-surgery. MEC with cystic degeneration is a common diagnostic pitfall which can mimic many benign lesions in the salivary gland. We present a rare case with MEC with extensive cystic change, its molecular and pathologic findings and review the diagnostic features of MEC, its benign mimickers and useful tools for distinguishing these entities.

The existence of both neuroendocrine and non-neuroendocrine histology in variable proportion in a lesion has been described by the World Health Organisation (WHO) as mixed neuroendocrine and non-neuroendocrine neoplasm (MiNEN). The pathogenesis of this tumour remains controversial but molecular studies point towards a common monoclonal origin. Tumours are classified as functioning and nonfunctioning based on substances secreted. The nonfunctioning tumours may be discovered due to its local effect. Presented is a 66-year-old male with an intra-abdominal mass, underwent laparotomy and excision biopsy with transient right lower limb lymphoedema. Histology confirmed retroperitoneal MiNEN with no evidence of tumour recurrence 12 months following surgery. MiNENs should be considered as a differential diagnosis in patients with intra-abdominal mass. Surgical resection is recommended as this may offer the best treatment option.

Low-grade fibromyxoid sarcoma (LGFMS) is a rare, low-grade malignant soft tissue tumor that is often mistaken for benign or more rarely malignant tumor types. Commonly, this tumor affects young adults and typically arises in the deep proximal extremities or trunk with frequent recurrences and can metastasize to the lungs many years late. Visceral LGFMS is extremely rare. Only a few cases of primary LGFMS of the lung have been reported. Here, we present the clinical, gross, microscopic, and immunohistochemical characteristics of Evans tumor occurring in the lung with a review of the literature and discuss the differential diagnosis in this exceptional localization.

Dermatofibrosarcoma protuberans (DFSP) is an infrequent cutaneous tumour that may involve subcutaneous fat and in some cases fascia, muscles and bone. The infrequent occurrence lessens its clinical awareness in addition to its clinical semblance to many common cutaneous lesions. It is characterized by proclivity for local recurrence. We evaluated the clinical presentation and treatment outcomes of six consecutive cases of DFSP with histologic diagnosis in the University of Calabar Teaching Hospital, Calabar seen between January 2013 and December 2022. This was compared with total cutaneous malignances in the same period. The six consecutive patients comprised of two males and four females (M = F: 1:2) whose ages ranged from 21 to 57 years (mean of 36.5 years) and accounted for 7% of cutaneous malignancies. The site distribution was trunk (back) involved in 3 (50%) of the patients, limbs 3 (50%); upper 1 (17%) and lower limb 2 (33%). Clinical presentation was in the form of firm cutaneous mass with some ulcerated lesions that bled and some fungated. 50 percent of the patients presented with recurrent lesions and in all there was no regional lymphadenopathy or evidence of metastasis. There was a patient with Neurofibromatosis- 1 who had a huge fungated limb lesion offered amputation, four had wide local excision and one incision biopsy. Follow up was poor and the period ranged from 2 to 14 months (mean 7 months). Dermatofibrosarcoma protuberans is an uncommon tumour with clinical semblance to other cutaneous lesions. Early presentation, preoperative histologic diagnosis will enhance the goal of ensuring adequate excision. Adjuvant therapy with Imatinib with or without adjuvant radiotherapy are recommended in the treatment plan in view of the frequency of late presentation with advanced recurrent lesions and poor follow up.

Pleomorphic myxoid liposarcoma (PML) is a newly recognized entity with aggressive clinical behavior and a tendency to recur. It has histological features of both myxoid and pleomorphic liposarcoma and lacks the molecular and structural chromosomal abnormalities associated with myxoid and pleomorphic liposarcoma. The data about their response to chemotherapy is quite sparse. We report a case of incidentally detected pleomorphic myxoid liposarcoma of the mediastinum in a 32-year-old gentleman. After resection and adjuvant chemotherapy with doxorubicin and ifosfamide, there was no evidence of residual disease at the end of treatment. During a routine follow-up 5 months later, he was found to have a recurrence of the disease with histological confirmation. He received a trabectedin given its activity in myxoid liposarcoma. However, he had toxicities and progression leading to its discontinuation. Subsequently, eribulin was started as the next line of therapy. After 4 cycles of chemotherapy, response assessment was suggestive of partial response, which is still maintained after 7 cycles of eribulin. This is the first report of this entity responding to a newer chemotherapy regimen.

Introduction: Thyroid cancer is the most common endocrine tumor in humans. Follicular adenoma/carcinoma is the second most common subtype. Multiple histological patterns have been identified. Follicular adenoma with bizarre nuclei is one of the patterns associated with p53 mutation and has an unclear clinical prognosis.

Case report: A 74-year-old female presented with incidental findings of elevated TSH levels and normal thyroid markers. Ultrasound was performed and revealed multiple bilateral thyroid nodules measuring up to 1.9 cm. Fine needle aspiration was performed, and cytology showed one Bethesda category 5 nodule. Total thyroidectomy with neck dissection was performed, and the pathology showed follicular adenoma with bizarre nuclei. Based on the results of immunohistochemistry, the neoplastic cells exhibited staining for wild-type p53 and low levels of the proliferation index Ki-67.

Conclusions: We report a rare case of thyroid follicular adenoma with bizarre nuclei. In contrast to previous reports of this tumor, our patient showed a p53 wild-type pattern using immunohistochemistry. More studies are needed to better understand the etiology and clinical prognosis of this tumor.

Multiple myeloma is the second most common plasma cell malignancy, characterized by uncontrolled proliferation of plasma cells within the bone marrow. ELREXFIO™ (elranatamab-bcmm) is a recently FDA-approved drug for relapsed and refractory multiple myeloma. The progression of multiple myeloma involves interactions with various bone marrow cell types, and targeting this microenvironment has shown promising results in inhibiting its growth and osteolysis. ELREXFIO, a bispecific antibody targeting CD3 and BCMA, activates cytotoxic T-lymphocyte responses against BCMA-expressing myeloma cells. Clinical trials, such as MagnetisMM-3, demonstrated significant response rates and long-term tolerability. Its approval offers hope to multiple myeloma patients, especially those with relapsed or refractory cases, as innovative therapies like ELREXFIO continue to improve outcomes in this challenging malignancy.