Proximal-type epithelioid sarcoma in pubic region expressing L-type amino acid transporter 1: A case report

Proximal-type epithelioid sarcoma is an aggressive malignant soft-tissue neoplasm, a “proximal” variant of epithelioid sarcoma, resistant to multimodal therapy and involved in early tumor-related death. Pertinent treatments are, therefore, continually being explored. A 24-year-old woman with nonmetastatic proximal-type epithelioid sarcoma, originating subcutaneously on the right side of the vulva, underwent surgical resection; the lesion recurred, however, leading to death 3 months after the second surgery. Here described is a case of proximal-type epithelioid sarcoma expressing L-type amino acid transporter 1 (LAT1) that transports essential amino acids and p-borono-L-phenylalanine (BPA)—the chemical compound used in boron neutron capture therapy (BNCT)—and is highly expressed in many malignant tumors. Recently, LAT1 has drawn attention, and relevant treatments have been studied—LAT1 inhibitor and BNCT. LAT1 expression in proximal-type epithelioid sarcoma may lead to cogent treatments for the disease.

Malignant ossifying fibromyxoid tumor of the brain treated with post-operative fractionated stereotactic radiation therapy: A case report and literature review

Background: Ossifying fibromyxoid tumor (OFMT) is a rare musculoskeletal soft-tissue neoplasm of uncertain histogenesis most frequently occurring in the lower extremities. Conventionally, considered benign, these tumors are often managed by surgical resection followed by surveillance. However, malignant OFMTs with an increased propensity for local recurrence and distant metastasis have been recently identified, and the role of adjuvant therapy in these more aggressive cases is unclear. Case Description: We present, to the best of our knowledge, the first reported case of a primary, malignant, and intracranial OFMT. A 29-year-old female presented with recurrent headaches secondary to a large mass in her right frontal lobe. She underwent gross total resection of the brain mass with final pathology consistent with malignant OFMT demonstrating high-risk features including increased cellularity, grade, and mitotic activity. Due to these high-risk features, she received postoperative fractionated stereotactic radiation therapy (FSRT) to the resection cavity, and to the best of our knowledge, she represents the only known patient with OFMT to be treated with adjuvant FSRT. She tolerated the adjuvant treatment well with no acute or late toxicities and remains disease-free over 5 ½ years after resection. Conclusion: Adjuvant FSRT appears to be a safe and efficacious approach for managing this rare intracranial disease presentation. We review this patient’s clinical course in the context of the literature to demonstrate the difficulties associated with accurate diagnosis of this rare tumor and the controversial role of adjuvant therapy in preventing disease recurrence in this patient population.

Spectrum of soft tissue lesions in upper and lower extremities on fine needle aspiration cytology: A three years’ experience from Western Indian population

Soft tissue lesions have a wide spectrum which includes non- neoplastic, benign & malignant lesions. FNAC act as preliminary diagnostic tool providing a predictive diagnosis of a benign or malignant soft tissue neoplasm and thus helps for further intervention. This study discusses the spectrum of FNAC of soft tissue lesions in upper and lower limbs.All cytology smears of soft tissue lesions from both upper and lower limbs were included over a period of three years at tertiary care hospital. The most common age group was 31 to 40 years with male to female ratio being 1.3:1. The spectrum included broadly neoplastic (65.7%) & non-neoplastic (34.3%) cases. The neoplasms were further divided as benign (42.8 %), malignant (18.6%) and suspicious for neoplasm (4.3%) whereas (34.3 %) were non-neoplastic lesions. The most common lesion was giant cell tumor (GCT) of tendon sheath. The most common site was hand (24%) followed by feet (22.5%). FNAC of soft tissue lesions is useful for differentiating various lesions and neoplasms in extremities so as to help patients in further management.

Intra-Abdominal Desmoplastic Small Round Cell Tumor: Current Treatment Options and Perspectives

Intra-abdominal desmoplastic small round cell tumor (IDSRCT) is a rare and highly malignant soft tissue neoplasm, which is characterized by rapid progression and poor prognosis. The mechanism underlying the development of this neoplasm remains elusive, but all cases are characterized by the chromosomal translocation t (11;22) (p13; q12), which results in a formation of EWSR1-WT1 gene fusion. The diagnosis of IDSRCT is often made with core-needle tissue biopsy specimens or laparoscopy or laparotomy. Immunohistochemical analyses have shown the co-expression of epithelial, neuronal, myogenic, and mesenchymal differentiation markers. FISH or reverse transcription polymerase chain reaction detecting EWS-WT1 fusion can be performed to assist in molecular confirmation. There is no standard of care for patients with IDSRCT currently, and majority of newly diagnosed patients received the aggressive therapy, which includes >90% resection of surgical debulking, high-dose alkylator-based chemotherapy, and radiotherapy. More recently, targeted therapy has been increasingly administered to recurrent IDSRCT patients and has been associated with improved survival in clinical conditions. Immunotherapy as a possible therapeutic strategy is being explored in patients with IDSRCT. In this review, we summarize currently available knowledge regarding the epidemiology, potential mechanisms, clinical manifestations, diagnosis, treatment, and prognosis of IDSRCT to assist oncologists in comprehensively recognizing and accurately treating this malignancy.

Granular Cell Tumor in Auditory Meatus: A Case Report

Granular cell tumor (GCT) is a rare benign soft tissue neoplasm that develops primarily in the skin and subcutaneous tissue of the head and neck, frequently in the tongue, but has not been observed in the auditory meatus. These tumors generally present as slow-growing nodules with few unique clinical or radiological features, and so must be confirmed by pathological examination. Here, we present the case of a 62-year-old female with right hearing loss and benign GCT in the right auditory meatus initially misdiagnosed as cholesteatoma.

Ultrasound-Guided Moving Shot Radiofrequency Ablation of Benign Soft Tissue Neoplasm

Background and Objective: To evaluate the effectiveness of radiofrequency ablation (RFA) using the moving-shot technique for benign soft tissue neoplasm. Materials and Methods: This retrospective study reviewed eight patients with benign soft tissue neoplasm presenting with cosmetic concerns and/or symptomatic issues who refused surgery. Six patients had vascular malformation, including four with venous malformation and two with congenital hemangioma. The other two patients had neurofibroma. All patients underwent RFA using the moving-shot technique. Imaging and clinical follow-up were performed in all patients. Follow-up image modalities included ultrasound (US), computed tomography (CT), and magnetic resonance (MR) imaging. The volume reduction ratio (VRR), cosmetic scale (CS), and complications were evaluated. Results: Among the seven patients having received single-stage RFA, there were significant volume reductions between baseline (33.3 ± 21.2 cm3), midterm follow-up (5.1 ± 3.8 cm3, p = 0.020), and final follow-up (3.6 ± 1.4 cm3, p = 0.022) volumes. The VRR was 84.5 ± 9.2% at final follow-up. There were also significant improvements in the CS (from 3.71 to 1.57, p = 0.017). The remaining patient, in the process of a scheduled two-stage RFA, had a 33.8% VRR after the first RFA. The overall VRR among the eight patients was 77.5%. No complications or re-growth of the targeted lesions were noted during the follow-up period. Of the eight patients, two received RFA under local anesthesia, while the other six patients were under general anesthesia. Conclusions: RFA using the moving-shot technique is an effective, safe, and minimally invasive treatment for benign soft tissue neoplasms, achieving mass volume reduction within 6 months and significant esthetic improvement, either with local anesthesia or with general anesthesia under certain conditions.

Granular cell tumour of cecum mimicking a neuroendocrine tumor

Granular cell tumor (GCT) is a benign soft tissue neoplasm generally believed to be of nerve sheath origin. It is most frequently seen in skin, subcutaneous tissue and oral cavity. GCTs are uncommon in gastrointestinal tract (GIT), in which the majority are located in the esophagus. In this article, we report a case of GCT involving cecum in a 22 years lady. She had a sessile polyp in the cecum which was thought to be NET. Typical histomorphology and expression of S-100 on immunohistochemistry confirmed the diagnosis.We have reviewed, the GCTs of cecum reported previously with emphasis on the differential diagnosis. To best of our knowledge, this is only the 3 case of GCT of cecum reported in the Indian literature. Colonic GCTs are extremely uncommon. This is just the third case of GCT of colon in Indian literature. GCTs pose a diagnostic challenge due to lack of symptoms or nonspecific symptoms. Awareness of this entity helps in preventing misdiagnosis as happened in this case and avoiding further unnecessary treatment.

Dermoscopy of Dermatofibrosarcoma Protuberans

ermatofibrosarcoma protuberans (DFSP), also known as dermatofibrosarcoma of Darier and Ferrand, is a soft-tissue neoplasm of intermediate to low-grade malignancy, which accounts for 0.1–1% of all cutaneous malignant tumours [1]. The diagnosis of this entity is based on physical examination and a confirmative biopsy sample [2-5]. However, the lack of reliable clinical criteria suggestive of DFSP results in delayed diagnosis and poorer patient outcome.