Rare Tumors最新文献

Purpose: Adrenocortical carcinoma (ACC) is a rare and highly aggressive malignant neoplasm, usually diagnosed in advanced stage. Role and efficacy of adjuvant radiotherapy has not been well defined. The objective of this study is to describe the various clinical characteristics and prognostic factors affecting the survival of ACC along with the role radiotherapy on overall survival and relapse free survival.

Methods: A retrospective analysis of 30 patients registered between 2007 and 2019 was carried out. The medical records containing clinical and treatment details were analysed. Data was analysed using SPSS 25.0. Survival curves were computed using Kaplan-Meier method. Univariate and multivariate analyses were performed to analyze the prognostic factors affecting the outcome. A p value of less than 0.05 was considered to be statistically significant.

Results: The median age of patients was 37.5 years (range, 5-72 years). 20 patients were females. Twenty-six patients had advanced stage (III/IV) disease while only four patients presented in early stage. Twenty-six patients underwent total adrenalectomy. Eighty three percent patients received adjuvant radiation therapy. The median follow up was 35.5 months (range, 7 monthss-132months). The estimated three- and 5-years overall survival (OS) was 67.2% and 23.3%, respectively. Capsular invasion and positive margins were the independent prognostic factors influencing both OS and relapse free survival (RFS). Out of 25 patients who received adjuvant radiation, only three patients had local relapse.

Conclusion: ACC is a rare and aggressive neoplasm with majority of patients presenting in advanced stage. Surgical resection with negative margins remains the mainstay of treatment. Capsular invasion and positive margins are independent prognostic factors for survival. Adjuvant radiation reduces the risk of local relapse and is well tolerated. Radiation can be used effectively in adjuvant and palliative settings in ACC.

The incidence of malignant tumors diagnosed during pregnancy is increasing, often ascribed to the recently recognized trend that many women are postponing childbirth. Although early diagnosis is optimal for both mothers and fetuses, the diagnosis of malignant tumors during pregnancy is often delayed until an advanced stage, because generalized symptoms of pregnancy and malignancy may overlap, such as shortness of breath, chest or abdominal discomfort. The study patient was 21 years old, and 31 weeks-pregnant when she was diagnosed with primary tracheal adenoid cystic carcinoma (ACC). The patient initially presented with dyspnea and decreased blood oxygen saturation and underwent a cesarean section on the first night of hospitalization, resulting from fetal distress. This case report intended to investigate potential barriers to the timely diagnosis of tracheal ACC and consider optimal management strategies when it is diagnosed during pregnancy.

Background: This review will outline the evaluation, diagnosis, and management of dermatofibrosarcoma protuberans and emphasizes multidisciplinary role of nurses, plastic surgeons and radiation oncologist in this recurrent metastatic lesion. It pinpoints affected population at risk, clinical features, and reconstruction options. No analytical research has been done in this area.

Material and methods: A scoping review of patients of DFSP who underwent reconstruction after excision of tumors was performed in the Department of Burn and Plastic Surgery, AIIMS Rishikesh. It used a five framework approach. A review of 85 similar cases reported in the literature have been scrutinized in relation to the reconstruction options, sites of the tumor, margins of excision and recurrence.

Results: 85 full length English studies were included out of the 445 cases found in Pubmed and related search engines to reveal various reconstructive options in reconstruction of DFSP defects. Present scoping review identifies free anterolateral thigh flap to be useful in 7 review articles followed by propeller flaps in 3 isolated case reports. 2 cases of free latissimus dorsi flap were used for reconstruction of abdominal defects.

Conclusion: All patients should undergo a strict screening protocol where the health personnel can play a crucial role by educating parents on the follow up and report new lesions as early as possible. All operated tumor patients can be given safety tips and education on care and risks after reconstruction with skin flaps or skin grafting. A multidisciplinary approach between the surgeon, nurse and radiation oncologist is needed for effective management of these lesions.

Langerhans histiocytosis or Langerhans cell histiocytosis (LCH) is a rare benign pathology representing less than 1% of orbital tumors. It can cause either localized or generalized lesions, leading to the destruction of hard and soft tissues. Eosinophilic granuloma is the most benign form and the predominant clinical presentation of LCH. We report a case of eosinophilic granuloma with orbital involvement in an 18-year-old male patient. Orbital radiotherapy was initially planned, but finally it was not performed due to a spontaneous regression of the lesion after the incisional biopsy. The presented case supports an expectant attitude given the possibility of a spontaneous regression after the biopsy, especially in small lesions. However, long-term follow-up is essential given the risk of recurrence.

Metastasis of pleomorphic adenoma (PA) is rare and usually presented as a locoregional recurrence developed many years after excision of the primary tumor although the PA is the most common neoplasm in the parotid gland. We described a case of a 48-year-old male with a parotid tumor with multiple enlarged ipsilateral lymph nodes which suggested a malignancy. The tumors had been neither evaluated nor excised and preoperative evaluation revealed benign PA in both lesions. After the complete surgical excision, the final pathology was notable for benign PA with metastasis to regional lymph nodes. At 1 year follow up he was clinically and radiographically free of disease. This implies that pleomorphic adenoma can occur as initially metastasis to regional lymph node even though benign neoplasm.

Inflammatory myofibroblastic tumor (IMT) is an uncommon chest pathology. Treatment primarily focuses on surgical resection for diagnostic and therapeutic purposes. However, there are instances in which alternative therapies with steroids, chemotherapy, or radiation are necessary. We discuss a case of recurrent IMT for which very low dose radiation proved an effective treatment.

Cortical ependymomas are currently not considered a subgroup of supratentorial ependymomas; however, there is a growing body of literature investigating the natural history of these lesions compared to supratentorial ependymomas. We performed a systematic literature review of cortical ependymomas with a focus on the natural history, clinical characteristics, and clinical outcomes of these lesions as compared to supratentorial ependymomas. Our search revealed 153 unique cases of cortical ependymomas. The mean age on presentation was 21.2 years. Males and females comprised 58.8% (90/153) and 41.2% (63/153) of cases, respectively. The most common presenting symptom was seizure activity occurring in 44.4% of the cohort (68/153). The recently recognized C11orf95-RELA fusion was identified in 13.7% of the cohort (21/153) and 95.5% of cases (21/22) reporting molecular characterization. World Health Organization grades 2 and 3 were reported in 52.3% (79/151) and 47.7% (72/151) of cases, respectively. The frontal lobe was involved in the majority of cases (54.9%, 84/153). Gross total resection was achieved in 80.4% of cases (123/153). Tumor recurrence was identified in 27.7% of cases (39/141). Mean clinical follow-up was 41.3 months. Mean overall survival of patients who expired was 27.4 months whereas mean progression-free survival was 15.0 months. Comparatively, cortical ependymomas with C11orf95-RELA fusions and supratentorial ependymomas with C11orf95 RELA fusions exhibited differing clinical outcomes. Further studies with larger sample sizes are necessary to investigate the significance of RELA fusions on survival in cortical ependymomas and to determine whether cortical ependymomas with C11orf95-RELA fusions should be classified as a distinct entity.

Ewing sarcoma is a primitive neuroectodermal tumor which seldom presents with primary disease in people over age 40 and outside of the appendicular or axial skeleton. We examine a case of primary thoracic Ewing Sarcoma diagnosed initially by CT-guided biopsy in a woman at the age of 74 years. The disease progressed after initial combined modality therapy consisting of neoadjuvant chemotherapy, surgical resection, and adjuvant radiation therapy and two additional courses of multiagent chemotherapy. After relapse of her disease, subsequent second- and third-line systemic agents which included chemotherapy and targeted agents were given with disease stabilization achieved now over 30 months from initial diagnosis. To our knowledge, this is the first report of a primary pulmonary Ewing sarcoma diagnosed in a patient greater than 70 years of age in whom multiple remissions have been achieved with tolerable toxicities.

Background: Schwannomas are mesenchymal tumors arising from neural sheath cells and whose diagnosis is based on immunohistochemistery. The digestive and especially colonic location of this tumor is rare. Commonly described in elderly patient, their malignancy is unusual.

Case report: We report the case of a 23-year-old girl, with learning disability, operated in emergency for acute peritonitis. Peroperatively, we discovered a peritonitis secondary to a bulky perforated cecal tumor. We performed a right colectomy and an ileostomy. The posterior margin of the resection was macroscopically involved. The diagnosis of colonic schwannoma was confirmed with immunopathological examination of the surgical specimen. Surgical exploration 4 months later and morphological investigations during 2 years showed stability of the tumoral residue in the right iliac fossa. However, we noticed, on CT scanning control 2 years postoperatively, the appearance of a mesenteric recurrence. Exploratory laparotomy confirmed the unresectability of this mesenteric mass and showed the presence of multiple parietal nodules whose biopsies revealed their neurofibromatous nature. The 4 year follow-up of the patient didn't reveal any complication rather than need to right nephrostomy due to ureter compression by the primary tumoral residue.

Discussion: Colonic schwannoma is a rare disease, commonly described in uncomplicated stages. The learning disability of our patient had favorized the absence of declared symptoms and promoted the evolution of the cecal swhannoma until its perforation. This complication was not described before. Local recurrence has been also rarely reported in the literature. Association with neurofibroma may be hereditary in a context of neurofibromatosis or sporadic.

Conclusion: Colonic schwannoma may have polymorphic presentation mimicking malignant tumor in such cases. Not treated in time, it can lead to severe complications, such as tumoral perforation. Surgical resection remains the mainstay treatment. The slow evolutionary genius of schwannoma, even when incompletely resected by necessity, confirms its good prognosis.