Rare Tumors最新文献

Background: Rhabdomyosarcomas are the most common soft tissue sarcoma in children, and pediatric alveolar rhabdomyosarcoma (ARMS) prognosis has improved based on cooperative studies. However, in adults, ARMS is significantly rarer, has poorer outcomes, and currently lacks optimal treatment strategies. Objective: This study aimed to evaluate the clinical outcome of an adult ARMS population with different front-line systemic chemotherapies and determine if any chemotherapy regimen is associated with improved survival. Materials and methods: This is a retrospective study of histologically confirmed fusion-positive ARMS patients over 18 years of age, who were treated at MD Anderson Cancer Center (MDACC) from 2004 to 2021 and received systemic chemotherapy. Descriptive clinical statistics were performed, including staging, front-line chemotherapy, multimodal therapy usage, response rates, and survival analyses. Results: 49 ARMS patients who received upfront chemotherapy were identified. Locoregional treatments included radiotherapy (RT) alone (29%, n = 14), surgery alone (10%, n = 5), or both (45%, n = 22). Median overall survival (OS) for the entire cohort was 3.6 years, and the overall response rate to systemic therapy was 89%. No chemotherapy regimen showed OS benefit, specifically analyzing the pediatric-based vincristine, actinomycin-D, cyclophosphamide (VAC) or adult-based vincristine, doxorubicin, ifosfamide (VDI) regimens, even when controlled for other clinical risk factors. Conclusion: In this single-center contemporary series, adult ARMS patient outcomes remain poor. There was no statistically significant OS difference in patients who did or did not receive adult or pediatric based ARMS regimens, although a high overall response rate to chemotherapy was seen across the entire cohort. Based on these observations, further randomized prospective studies are necessary to delineate which frontline chemotherapy regimen is most beneficial in this rare adult cancer.

Intraventricular schwannomas are extremely rare, typically benign tumors originating from Schwann cells, which are not normally found within the ventricular system. Their presence challenges conventional understanding of tumor origins and complicates diagnosis and management. We report the case of a 19-year-old female presenting with a drop attack and headache, with no significant medical history. MRI revealed a heterogeneously enhancing lesion in the right lateral ventricle. Differential diagnoses included malignant tumors; however, histopathological examination post-surgical resection confirmed an intraventricular schwannoma. Postoperative outcomes were favorable, with successful CSF diversion via a right occipital ventriculoperitoneal shunt for isolated right temporal hydrocephalus. This case is notable for its atypical presentation in a young patient, challenging the conventional understanding that intraventricular schwannomas primarily affect older individuals. In addition, the correct diagnosis and successful management of a rare intraventricular schwannoma underscores the importance of considering this rare diagnosis in patients with nonspecific neurological symptoms and intraventricular lesions. This case, alongside the literature review, enriches the body of evidence on intraventricular schwannomas, highlighting the critical role of surgical intervention and the need for a comprehensive diagnostic approach.

Tumors originating from soft tissues are uncommon, among these tumors, liposarcomas are the most frequent. These tumors remain asymptomatic for a long time, and only revealing themselves when they reach an important size. In such cases, treatment is difficult, requiring extensive surgery procedures that can excise several adjacent structures, potentially completed by adjuvant radiotherapy. Despite successful treatment, the recurrence rate remains very high. We report the case of a giant liposarcoma requiring a monobloc extensive resection involving the removal of the tumor, left kidney, left adrenal gland, and a portion of the posterior abdominal wall.

Myxoid/round cell liposarcomas (MRCLPS) are a rare soft tissue sarcoma. We report the largest sarcoma in our institutional history. We discuss the patient's surgical management and treatment of the tumor and challenges given its dimensions. Several complications arose following primary resection that were managed by a multidisciplinary team. Although MRCLPS can vary in size, large MRCLPS must be treated cautiously given the potential for complications. Additionally, multidisciplinary treatment of MRCLPS is essential in diagnosing and treating these complex cases.

Laryngeal schwannoma is a rare benign nerve sheath tumor that is slow growing. The diagnosis is made from a combination of clinical, radiological, and histopathological findings, and the main method of treatment is resection. We report a case of a 69-year-old presenting with a neck mass causing stridor, dysphagia, and orthopnea. CT of the neck showed an enhancing mass measuring 6.3 cm and extending superior to the larynx. Emergent tracheostomy and mass resection were performed, and histopathology and immunohistochemical findings were obtained from the specimen supporting schwannoma. In conclusion, while rare, schwannoma should always be considered as a differential diagnosis for a laryngeal mass. More studies are needed to assess the size and prognosis of the tumor.

Sino-nasal respiratory epithelial adenomatoid hamartomas (REAHs) are rare entity. They are benign tumors with excellent results after complete excision. We report a case of a 57-year-old male with a history of endoscopic surgery for right nasal polyps 20 years ago. The patient presented nasal obstruction that persisted for 10 years without anosmia nor epistaxis. Nasal endoscopy found a tissular mass filling the right nasal cavity extending to the nasopharynx. CT scan and MRI demonstrated soft tissue opacification of the right maxillary sinus and the homolateral anterior ethmoid cells with extension to the nasal cavity. The suspected diagnosis on imaging was an Inverted papilloma with a wide implantation base on the posterior part of the nasal septum. No endocranial or orbital extension was noted. The patient underwent endoscopic sinus surgery with complete extirpation of the tumor and a right ethmoidectomy. Histopathological assessment showed features consistent with REAH. No recurrence was noted at 1 year follow-up.

The purpose of this study was to analyze the outcomes of extracranial GCT in children in a developing country and to assess prognostic factors. The data on 141 children (<18 years old) with extracranial GCT, confirmed histopathologically, collected over the past 9 years (from February 2013 to June 2022) were retrospectively studied. The patients underwent the same therapy with platinum-containing chemotherapy regimens. In the malignant GCT group, OS and EFS were 81.0 ± 4% and 73 ± 5%, respectively. OS and EFS in the teratoma group were 90 ± 5% and 85 ± 6%. In univariate analysis, parameters like stage of disease, tumor localization, AFP level ≥10,000 ng/mL, serum AFP kinetics and resection status were found to be statistically significant prognostic factors. In the multivariate analysis, the significant adverse factors were the resection status, initial AFP level ≥10,000 ng/mL and serum AFP kinetics slow down (p = .000). Good survival rates can be achieved in developing countries with adequate compliance with treatment protocols. The analysis demonstrates high efficacy of platinum-containing chemotherapy regimens. In our opinion, the protocol used in high-income countries can be implemented in low-income countries with the financial support from the government. The qualification of specialists is also important.

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.