Rare Tumors最新文献

Background: Ewing's sarcoma is a rare malignant entity. Extraosseous Ewing's sarcoma (EES) of the head and neck region is a rare occurrence, and Ewing's sarcoma of the parotid gland is even rarer. To the best of our knowledge, we reported the first case of extraskeletal ES originating from the parotid gland in the Tunisian literature.

Case report: We report a rare case of EES of the parotid gland in a 35-year-old female. She presented with left parotid tumefaction. Physical examination revealed solid and fixed mass associated with facial paralysis. Magnetic resonance imaging illustrated a left intra-parotid process occupying the entire gland measuring 42 mm infiltrating the masseter and pterygoid muscles. The patient had a total left parotidectomy with ipsilateral triangular lymph node dissection. The definitive pathological examination and the immunohistochemical staining confirmed a primary peripheral neuroectodermal tumor or PNET with the presence of a specific EWING/PNET-type translocation in 60% of the tumor cells. She had an adjuvant chemotherapy (four cycles of vincristine, doxorubicin, cyclophosphamide alternating with ifosfamide and etoposide) followed by external radiotherapy.

Conclusion: A clinical and radiological follow-up by cervical MRI was done every 3 months and The 10-month follow-up showed no locoregional and distant recurrence.

Introduction: Spindle cell carcinoma (SCC), also called sarcomatoid carcinoma or carcinosarcoma, represents a rare variant of squamous cell carcinoma that may involve multiple organs, including the larynx. It is a mixed tumor, composed of both malignant epithelial and mesenchymal elements. As the larynx appears to be an unusual site, we report a case of treated SCC laryngeal as well as a literature review of such tumor.

Observation: A 72-year-old male, with 2 months' history of a progressive worsening dysphonia, was examined. The patient examination showed no cervical adenopathy, while direct laryngoscopy detected a voluminous budding formation of the anterior commissure. A biopsy was performed, in which an undifferentiated carcinoma was identified. The computed tomography (CT) confirmed the existence of a glottic tumor, which completely obstructs the lumen of the larynx. No metastasis were noticed elsewhere on the PET-CT. The tumor was then classified as T3 N0 M0. The patient underwent a total laryngectomy, thyroidectomy and neck dissection. The definitive histopathological analysis confirmed the diagnosis of SCC of the larynx with negative surgical margins. Afterward, the patient underwent adjuvant radiotherapy (RT) on the tumor bed.

Conclusion: Primary laryngeal SCC is a very rare malignancy with a tendency to occur with controlateral lymph node metastasis at an early stage of the disease. Combining surgery and postoperative RT is recommended due to its aggressive profile.

Extra gastrointestinal stromal tumour(EGIST) is rare and is regarded as gastrointestinal stromal tumour(GIST) that originates outside of the gastrointestinal tract. They originate from other intraabdominal tissues such as the omentum, mesentery and peritoneum. The cell of origin is the interstitial cell of Cajal(ICC), a pacemaker cell that controls gastrointestinal peristalsis and the tumor is characterized by the expression of KIT(CD117) a transmembrane tyrosine kinase receptor. Here, a 49-year-old female who presented with a 6 month history of abdominal pain, progressive abdominal swelling and the presence of an upper abdominal mass. She had surgical resection and adjuvant imatinib for the intraabdominal mass diagnosed on histology and immunohistochemistry as EGIST of the lesser omentum. Serial CT 14 months after surgery revealed no evidence of recurrence or metastasis. Clinicians should consider EGIST in the differential diagnosis of abdominal masses.

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.