A Predictable Approach of a Rare and Frequently Misdiagnosed Entity: Laryngeal Nerve Schwannoma

(1) Background: Schwannoma, a mesenchymal neoplasm derived from Schwann cells that line peripheral nerve sheaths, has a challenging diagnosis, due to the non-specific medical history and clinical examination. Nowadays, virtual reality (VR) is increasingly more used for enhancing diagnosis and for preoperative planning of surgical procedures. With VR, the surgeon can interact, before any surgery, with a virtual environment that is completely generated by a computer, offering them a real experience inside a virtual 3D model. (2) Methods and Results: The aim of the present paper was to present a case of surgically removal of a schwannoma, which originated from the fibers of the superior laryngeal nerve, in a predictable and minimally invasive fashion, upon using VR for diagnosis and surgical procedure planning. (3) Conclusions: The current clinical report attracted the attention of including schwannoma in the possible differential diagnosis of a swelling in the anterior cervical region, mainly when a nonspecific radiological appearance is noticed, even with the use of multiple imaging modalities. Virtual reality can increase the predictability and success rate of the surgical procedure, being in the meantime a good tool for communication with the patient.

Solitary Fibrous Tumors Arising from Bilateral Ovaries: A Case Report and Review of the literature

Background: A solitary fibrous tumor (SFT) is a distinct mesenchymal neoplasm. It was originally described as a tumor localized to the pleura but was later reported in several other anatomic sites and exhibited a wide spectrum of histological features. Owing to its rarity, the diagnosis of extrapleural SFT is challenging and requires an integrated approach comprising specific clinical, imaging, histological, and immunohistochemical findings. Case presentation: Herein, we report the imaging findings of a rare case of SFT arising from bilateral ovaries confirmed by surgical excision and histological examination. No adjuvant radiotherapy or chemotherapy was given to the patient, and she was disease-free with no evidence of recurrence or metastasis at the 96-month postoperative follow-up. Although it mostly follows a favorable course, SFT is notoriously difficult for prognostication because of its propensity for late relapse or even metastases in 10–39% of cases. Conclusion: Close follow-up is recommended because of the limited information on its long-term behavior.

SOLITARY FIBROUS TUMOR OF PROSTATE – A CASE REPORT

Solitary Fibrous Tumor (SFT) of prostate is an unusual mesenchymal neoplasm. We report SFT in a 62 year-old man which was clinically misdiagnosed as benign prostatic hyperplasia (BPH). The specimen of surgically resected two prostate mass, we received were solid grey-white nodular on cut surface. Based on histopathological ndings and IHC assessment, a diagnosis of SFT was made. In addition, we review the literature and discuss the challenging issues of misdiagnosis. The case is presented in view of its rarity.

Case report: A EWSR1-CREM-Rearranged Gastric Mesenchymal Tumor Accompanied by Gastritis Cystica Profunda and with Probable Benign Behavior

Background:Genomic rearrangements involving EWSR1 and the CREB family of transcription factors are increasingly detected in an array of mesenchymal neoplasms, including clear cell sarcoma-like tumors of the gastrointestinal tract (CCSLGT), a gastrointestinal malignancy. Gastritis cystica profunda (GCP) is a rare disease characterized by cystic dilatation of gastric glands into the submucosa and generally regarded as a precursor to tumor.Case presentation:Herein, we report a peculiar case in which a EWSR1-CREM-rearranged gastric mesenchymal tumor was admixed with GCP in a gastric fundic mass in a 64-year-old woman. Histologically, the mass showed readily distinguishable epithelial and mesenchymal components. All layers of the gastric wall were invaded, although no lymph node or neural invasion, or tumoral vascular emboli was noted. The epithelial component consisted of foveolar-type glands interspersed with pyloric-type ones, with glands showing metaplastic growth. Most glands were elongated with irregular contour, with some forming cystic structures containing eosinophilic secretory material. The epithelial cells showed focally atypical hyperchromatic nuclei, inconspicuous nucleoli, slightly eosinophilic cytoplasm, and infrequent mitosis. The mesenchymal component consisted of monomorphic, ovoid-shaped cells often arranged in sheets surrounding the glands. These cells displayed scanty cytoplasm, regular nuclei, and rare mitotic figures. Immunohistochemically, the epithelial cells were uniformly positive for cytokeratins and negative for markers of neuroendocrine differentiation, and the mesenchymal neoplasm showed focal positivity for CD10, CD117 and CD56 as well as negativity for cytokeratin, neuroendocrine markers, DOG-1, CD34, SMA, desmin, HMB-45, Melan A, and S-100. An EWSR1-CREM fusion was identified with genomic profiling and confirmed with fluorescence in situ hybridization in the tumor. Given the low mitotic activity, absence of nodal or distant spread and vascular or neural invasion, and the disease-free status at 28-month follow-up, both lesions were likely benign. Conclusions:To our knowledge, this is the first to report a EWSR1-CREM fusion in a gastric mesenchymal tumor with accompanying GCP. Whether this case suggests a novel entity or falls into one of proposed classes awaits report of more similar cases and insights into the relationship between GCP pathogenesis and oncogenesis.

Characterization of A Rare Case of Vulvar Epithelioid Sarcoma with local recurrence and metastases

Introduction/Objective Epithelioid sarcoma (ES) is a rare, malignant mesenchymal neoplasm that has a known tendency for local recurrence, regional lymph node involvement, and distant metastases. Two histologic variants have been recognized: classic ES also known as the distal type, and proximal-type ES (PES). The classic ES is common in young adults. It occurs more frequently in the distal upper extremities followed by the distal lower limbs and has a male prevalence of 2:1. Conversely, PES commonly involves deep tissues in the pelvic region, including the genital area. It tends to occur in older patients and follows a more aggressive clinical course. In the female genital tract, PES occurs most frequently in the vulva. The incidence of primary sarcoma of the vulva accounts for 1.5-5% of all malignant tumors, making PES a very rare incidence. Methods/Case Report Here we report a 60-year-old female diagnosed with vulvar epithelioid sarcoma treated with a right radical vulvectomy and bilateral inguinal lymph node dissection in 2008. In 2017, further surgery and adjuvant radiation were given for local recurrence. In 2020, the patient developed left hip pain and was found to have an expansile lytic lesion in the left proximal femur. Extensive resection was performed. Grossly the vulvar lesion was nodular with diffuse hemorrhage, degeneration, and necrosis. Microscopically, the tumor cells had large vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. Histologically, the morphology of the tumor cells are similar for the primary vulvar specimen and the bone metastases. Immunohistochemically, the tumor cells are positive for vimentin, GATA, FLI-1, SMA, SMHC, partially positive for CAM5.2, AE1/AE3, CD31, and CD163. Immunohistochemistry was negative for CDX2, CD56, S-100, TTF-1, CK5/6, CK20, P40, mammoglobin, MOC31, ER, CK7, CK903, HMB45, PAX8. A Ki-67 proliferative index was around 30-40%. NGS molecular testing detected a SMARCB1 mutation with loss of exons 1-3 and exons 7-9 supporting the diagnosis of epithelioid sarcoma. Results (if a Case Study enter NA) NA Conclusion In summary, we report a case of PES of the vulva in a 60 year old female. Grossly, the lesion was nodular with histology showing large vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It showed loss of INI1/SMARCB1 nuclear expression. The patient is receiving further adjuvant treatment and shows no new metastases.

Sporadic Uterine Cervical Angiomyolipoma with Concurrent Endometrial Adenocarcinoma

Introduction/Objective Angiomyolipoma is a benign mesenchymal neoplasm composed of variable admixture of thick dysmorphic blood vessels, smooth muscle cells, and fat cells that commonly arises in the kidney. It is strongly associated with tuberous sclerosis but it can also occur as sporadic. Extra renal angiomyolipomas have been reported with the liver being the most common location. Few cases of angiomyolipoma in the female genital have been reported where the uterus being the most common site. Uterine cervical angiomyolipoma has rarely been reported. Methods/Case Report We reported a case of 64-year-old white female with postmenopausal bleeding. Endometrial biopsy revealed endometrioid type endometrial adenocarcinoma. MRI showed endometrium was thickened, and the cervix was enlarged with disruption of the cervical fibrous stroma on the anterior surface concerning for cervical stromal invasion. Grossly, besides the polypoid mass that involved the endometrial cavity, there was a firm nodule with whorled cut surface noted on the anterior surface of the cervix. Microscopic examination of the cervical nodule revealed a classic variant of angiomyolipoma with mature adipocytes, spindle shaped smooth myocytes and anomalous thick-walled blood vessels with hyalinization. The spindle cells were positive for smooth muscle actin and caldesmon. CD34 highlighted the thick walled blood vessels. The stain for HMB- 45 was negative in contrast to renal counterpart. These findings are consistent with cervical angiomyolipoma. In addition, there was endometrioid endometrial adenocarcinoma, FIGO grade 1, with microsatellite stable phenotype, with only superficial invasion of myometrium, without involvement of cervical stroma. Results (if a Case Study enter NA) NA Conclusion This is a rare and probably the only presentation of cervical angiomyolipoma concurrently occurring with endometrial adenocarcinoma. It is uncertain if these two disease entities have genetic or pathogenesis association. The imaging studies were very concerning for cervical stromal invasion or questionable cervical cancer with local invasion. Cervical angiomyolipomas, though, extremely rare, may also be included in dysfunctional uterine bleeding differential diagnosis.

Synchronous Malignant Gastrointestinal Neuroectodermal Tumor and SMARCA4-Deficient Undifferentiated Carcinoma With Independent Origins in the Small Intestine: A Case Report

BackgroundMalignant gastrointestinal neuroectodermal tumor (GNET) is a rare malignant mesenchymal neoplasm that commonly arises in the small bowel, stomach or colon. Meanwhile, SMARCA4-deficient undifferentiated carcinoma is a rarely reported entity with highly aggressive behavior that may involve the ovary, lung, gastrointestinal (GI) tract, endometrium and other organs. To our knowledge, we describe for the first time, an extremely rare case of synchronous GNET and SMARCA4-deficient undifferentiated carcinoma with independent origins in the small intestine.Case PresentationA 46-year-old woman presented with multiple small intestine masses and underwent surgical resection. Two distinct entities, GNET and SMARCA4-deficient undifferentiated carcinoma, were identified. GNET was composed of epithelioid and spindle cells with clear or eosinophilic cytoplasm arranged in sheets, nest, papillary, fascicular, palisade, rosette like or pseudoalveolar pattern. The neoplastic cells were positive for S-100 and SOX-10. Ewing sarcoma breakpoint region 1 gene (EWSR1) rearrangement was confirmed by fluorescence in situ hybridization (FISH), and EWSR1-CREB1 fusion was revealed by next-generation sequencing (NGS). SMARCA4-deficient undifferentiated carcinoma was composed mainly of poorly adhesive rhabdoid cells with eosinophilic cytoplasm arranged in a diffuse pattern. Multifocal necrosis, brisk mitotic figures as well as multinucleated tumor cells were observed. The neoplastic cells diffusely expressed pancytokeratin and vimentin, and was negative for SMARCA4(BRG1). Frame shift mutation of SMARCA4 was detected by NGS.ConclusionsThis is the first report that GNET and SMARCA4-deficient undifferentiated carcinoma occurred simultaneously in the small intestine, with the latter showing multiple involvement of the jejunum and ileum. The potential mechanism underlying co-existence of these two rare malignancies is unknown and need further investigations and concern.

Gastric glomus tumor: a case report and review of the literature

Introduction Gastric glomus tumor is a rare mesenchymal neoplasm. There are only a few cases of the tumor showing malignancy, and there are no specific guidelines for the management of this entity. Case presentation We present the case of a 53-year-old Caucasian male who was hospitalized for anemia. Computerized tomography of the abdomen depicted a mass between the pylorus of the stomach and the first part of the duodenum. Preoperative diagnosis was achieved with pathology examination of the biopsies taken via endoscopic ultrasound and upper gastrointestinal endoscopy. An antrectomy with Roux-en-Y anastomosis and appendicectomy, due to suspicion of appendiceal mucocele, were performed. The patient had an uneventful postoperative recovery and was discharged 5 days later. Discussion Preoperative diagnosis of a gastric glomus tumor is difficult owing to the location of the tumor and the lack of specific clinical and endoscopic characteristics. Furthermore, it is exceptional to establish diagnosis with biopsies taken through endoscopic ultrasound or upper gastrointestinal endoscopy, prior to surgical resection. Although most glomus tumors are benign and are not known to metastasize, there are rare examples of glomus tumors exhibiting malignancy. Treatment of choice is considered wide local excision with negative margins. However, long-term follow-up is required as there is the possibility of malignancy. Conclusion The aim of this report is to enlighten doctors about this uncommon pathologic entity. Surgical resection is considered the golden standard therapy to establish a diagnosis and evaluate the malignant potential.