Rare Tumor Research Articles

Comparison of clinical characteristics and prognostic factors in two site-specific categories of ampullary cancer

BACKGROUND Ampullary cancer is a relatively rare malignant tumor in the digestive system. Its incidence has increased in recent years. As for now, its biological characteristics have not been fully clarified. Recent studies have primarily focused on the histological classification and genetic changes, but there are fewer investigations into the differences among site-specific subgroups. The clinicopathological characteristics of ampullary cancer occurring in different positions have not been elucidated. Furthermore, the role of adjuvant therapy in the treatment of patients with ampullary cancer remains controversial. AIM To study the clinicopathological features of the two site-specific subgroups of ampullary cancer and explore the factors affecting prognosis. METHODS A total of 356 patients who met the inclusion and exclusion criteria were enrolled. Patients were divided into ampulla of Vater cancer (AVC) and duodenal papilla cancer (DPC) based on the gross and microscopic findings. Baseline data, admission examination results, and perioperative outcomes were collected and analyzed. The Kaplan-Meier curve was used for survival analysis. Univariate and multivariate analysis was performed to explore the independent risk factors affecting the overall survival (OS) of both groups. RESULTS The preoperative total bilirubin level in patients with AVC was significantly higher than those with DPC (P = 0.04). The OS for patients with DPC was 58.90 ± 38.74 months, significantly longer than 44.31 ± 35.90 months for patients with AVC (P < 0.01). The independent risk factors affecting the OS of AVC included: Preoperative albumin level (P = 0.009), total bilirubin level (P = 0.017), and number of positive lymph nodes (P = 0.005). For DPC, risk factors included: Age (P = 0.004), tumor size (P = 0.023), number of positive lymph nodes (P = 0.010) and adjuvant treatment (P = 0.020). Adjuvant therapy significantly improved the OS rate of patients with DPC, but not for those with AVC. CONCLUSION Patients with AVC had a shorter OS compared to those with DPC. The prognosis factors and the role of adjuvant therapy of two groups were different.

ANGIOGENIC FACTORS AS PREDICTORS OF SURVIVAL IN PATIENTS WITH BONE SARCOMAS

Introduction. Primary bone sarcomas are relatively rare neoplasms. They occur predominantly in adolescents and young adults, are characterized by an aggressive clinical course and a high metastatic potential, have a poor prognosis. In this regard, the problem of stratifying the risk of metastasis and death in order to select the optimal treatment tactics always remains relevant. The study of such markers as endostatin, vascular endothelial growth factor (VEGF), insulin-like growth factors IGF-1, IGF-2 as potentially informative predictors of survival in patients with bone sarcomas is pathogenetically determined by their involvement in the processes of tumor growth and metastasis. Aim – to analyze the relationship between pre-treatment serum levels of endostatin, VEGF, IGF-1 and IGF-2 with overall survival rates in patients with bone sarcomas. Material and methods. An analysis of overall survival rates was carried out in 134 patients with malignant bone tumors aged from 1 to 73 years (Me=27.0 years; Q1–Q3: 18.0 – 43.0 years), among them 87 men (64.9%) and 47 women (35.1%). All patients comprised 4 groups: osteosarcoma (n=58), undifferentiated pleomorphic sarcoma (n=5), Ewing sarcoma (n=29), chondrosarcoma (n=42). In all of them, before the start of specific antitumor treatment, the levels of endostatin, VEGF, IGF-1, and IGF-2 in the blood serum were determined using enzyme immunoassay. The follow-up period ranged from 1 to 229 months (Me=23.0 months; Q1–Q3: 10.0–121.0 months). To analyze overall survival, life tables and Kaplan–Meier curves were constructed. The effect of the studied serum markers on survival rates was assessed using the logrank test and Cox proportional hazards regression model. Results. During observation, death occurred in 51 patients (38.1%). In the group of deceased patients, serum levels of endostatin and IGF-2 were statistically significantly increased compared to the group of surviving patients (p 0.001 and p=0.011, respectively). Kaplan-Meier survival analysis using the logrank test revealed statistically significant differences in overall survival between the four groups of patients with different serum levels of endostatin, IGF-1 and IGF-2. The Cox regression method established the prognostic significance of endostatin as a predictor of overall survival (HR=1.012; p=0.013). Conclusion. Endostatin, IGF-1, IGF-2 can serve as predictors of overall survival of patients with bone sarcomas.

Assessing sarcoma cell cytoskeleton remodeling in response to varying collagen concentration

Sarcomas, rare malignant tumors of mesenchymal origin, are often underdiagnosed and have face diagnostic ambiguities and limited treatment options. The main objective of this study was to define the nanomechanical and biophysical properties of sarcoma cells, particularly examining how the cytoskeleton's remodeling and related cellular processes such as cell migration and invasion in response to environmental stimuli due to collagen content. Utilizing one murine fibrosarcoma and one osteosarcoma cell line we employed atomic force microscopy, immunostaining, advanced image processing, in vitro cellular assays, and molecular techniques to investigate cells' cytoskeleton remodeling in response to varying collagen concentration. Our study focused on how alterations in collagen content affects the cytoskeletal dynamics and correlate with changes in gene expression profiles relevant to metastasis and an aggressive cancer phenotypes. Our findings indicate that despite their shared classification, fibrosarcoma and osteosarcoma cells display distinct biophysical properties and respond differently to mechanical forces. Notably, this difference in cellular behavior renders mechanical properties a potent novel biomarkers. Furthermore, the metastasis-related identified genes related to metastatic capability, could be potential therapeutic targets. This study highlights the significance of understanding the unique traits of sarcoma cells to improve diagnostic precision and expand therapeutic strategies, for this rare type of cancer.

Metastatic tumours to the parotid: A 20-year single institutional experience with an emphasis on 14 unusual presentations

The parotid gland is a rare site for distant metastasis. We aim to provide an overview of metastatic tumours to the parotid over the past 20 years, focusing on clinicopathological analysis of 14 rare diagnoses. To the best of our knowledge, we are the first group to present the most up-to-date and largest case series on unusual metastases to the parotid. A total of 93 metastatic cases were identified from 2004 to 2023, on the pathology information system at North West London Pathology, with squamous cell carcinoma (n = 45, 48.4 %) as the most common primary, followed by malignant melanoma (n = 29, 31.2 %) and Merkel cell carcinoma (n = 4, 4.3 %). We came across 14 rare tumours that had metastasised to the parotid, including metastatic adenocarcinoma from kidney (n = 3, 3.2 %), lung (n = 3, 3.2 %) and breast (n = 1, 1.1 %), olfactory neuroblastoma (n = 3, 3.2 %), soft tissue sarcoma (n = 2, 2.2 %), small cell carcinoma (n = 1, 1,1 %) and hidradenocarcinoma (n = 1, 1.1 %). Half of all secondary neoplastic lesions (50.5 %) were found in intra-parotid nodes, while the other half (49.5 %) were found in parotid parenchyma. Our study offers valuable insights into the various tumour types that can metastasise to the parotid across a wide age range. It underscores the necessity of maintaining a broad differential diagnosis. Keeping an open mind regarding the potential primary sources of the tumour is imperative for accurate diagnosis and effective treatment planning.

Cervical angiofibroma of soft tissue: A rare case report with literature review.

Angiofibroma of soft tissue (AFST) is a rare benign fibrous tumor recently included in the 2020 WHO classification of soft tissue and bone tumors. Currently, there are limited reports on AFST, and pathologists lack sufficient understanding of its clinical and pathological characteristics. There is scarce literature available on AFST in the cervical region. We presented a case of a 49-year-old woman who was admitted to our hospital for emergency treatment due to vaginal bleeding and fatigue. Ultrasound revealed a 63 × 27 mm hypoechoic mass extending from the cervical opening to the external opening, with a hemoglobin level of 58.0 g/L on blood routine. The tissue exhibited a pale-yellow mucinous appearance with distinct tissue boundaries and a fibrous capsule under a microscope. HE staining revealed spindle-shaped fibroblast-like cells with a consistent morphology, thin-walled branching small blood vessels, and dilated blood vessels. Regions with abundant cells and areas with sparse cells were alternately distributed and migrated gradually. Immunohistochemical analysis indicated positive expression of P53, desmin, progesterone receptor, estrogen receptor, epithelial membrane antigen, vimentin, CD68, CD163 in the tumor, but negative expression of P16, S-100, smooth muscle actin, CD117, CD10, STAT-6. CD34 was negative in the tumor cells but positive in the vascular endothelium. The Ki-67 index value was 5%. Pathological examination confirmed a soft tissue angiofibroma of the cervix. Emergency hysteroscopic surgery was performed following infusion of 3 units of packed red blood cells. A local excision of the cervical mass was performed. A 1-month follow-up ultrasound showed no abnormal mass in the cervical canal, and there have been no signs of recurrence to date. Cervical angiofibroma of soft tissue is a rare tumor with a benign clinical manifestation, minimal local recurrence, and no significant metastatic potential. Treatment primarily involves local resection with a focus on achieving negative surgical margins. By presenting this case, we aim to enhance the diagnostic and differential diagnostic capabilities of pathologists in identifying uterine tumors and preventing misdiagnosis.

No communication between the bile duct and intraductal papillary neoplasm of the bile duct on imaging.

As a rare biliary tract tumor, intraductal papillary neoplasm of the bile duct (IPNB) is most common in elderly men and can progress to cholangiocarcinoma- (CCa) if left untreated. It is reported that IPNB usually communicates with the bile duct. As a result, the downstream bile ducts are imaged asymmetrically dilated. However, a case of IPNB that we report here is different. Enhanced MRI revealed a lack of connectivity with the bile duct in this case. Based on this, the purpose of this case study is to suggest that the majority of imaging doctors should widely understand the various imaging manifestations of the disease to avoid misdiagnosis. In addition, although this feature was not indicated by ultrasound in this case, given previous studies and considering the convenience and non-ionizing radiation damage of CEUS, we recommend its use as a screening method for IPNB to improve diagnostic accuracy.

A case of cervical leiomyomatosis diagnosis in a patient with endometrioid carcinoma of the uterine corpus

Leiomyomatosis is a rare tumor of smooth muscle cells with uncertain malignant potential. The available literature describes mainly cases of leiomyomatosis of the uterine body, lungs, vessels, and peritoneum. There are data on isolated cases of cervical leiomyomatosis. Most often, leiomyomatosis is asymptomatic, however, there are localizations with the development of such clinical manifestations as infertility or respiratory failure. A clinical observation of a 61-year-old patient who was diagnosed with endometrioid carcinoma, for which videoendoscopic extirpation of the uterus with appendages was performed, is presented. During the examination of the surgical material, cervical leiomyomatosis was diagnosed in the cervix. This case is of interest due to the rarity of this pathology and the complexity of its diagnosis.

Pheochromocytoma-Paraganglioma Syndrome: A Multiform Disease with Different Genotype and Phenotype Features.

Pheochromocytoma and paraganglioma (PPGL) are rare tumors derived from the adrenal medulla and extra-adrenal chromaffin cells. Diagnosis is often challenging due to the great variability in clinical presentation; the complexity of management due to the dangerous effects of catecholamine excess and the potentially malignant behavior require in-depth knowledge of the pathology and multidisciplinary management. Nowadays, diagnostic ability has certainly improved and guidelines and consensus documents for treatment and follow-up are available. A major impulse to the development of this knowledge has come from the new findings on the genetic and molecular characteristics of PPGLs. Germline mutation in susceptibility genes is detected in 40% of subjects, with a mutation frequency of 10-12% also in patients with sporadic presentation and genetic testing should be incorporated within clinical care. PPGL susceptibility genes include "old genes" associated with Neurofibromatosis type 1 (NF1 gene), Von Hippel Lindau syndrome (VHL gene) and Multiple Endocrine Neoplasia type 2 syndrome (RET gene), the family of SDHx genes (SDHA, SDHB, SDHC, SDHD, SDHAF2), and genes less frequently involved such as TMEM, MAX, and FH. Each gene has a different risk of relapse, malignancy, and other organ involvement; for mutation carriers, affected or asymptomatic, it is possible to define a tailored long-life surveillance program according to the gene involved. In addition, molecular characterization of the tumor has allowed the identification of somatic mutations in other driver genes, bringing to 70% the PPGLs for which we know the mechanisms of tumorigenesis. This has expanded the catalog of tumor driver genes, which are identifiable in up to 70% of patients Integrated genomic and transcriptomic data over the last 10 years have revealed three distinct major molecular signatures, triggered by pathogenic variants in susceptibility genes and characterized by the activation of a specific oncogenic signaling: the pseudo hypoxic, the kinase, and the Wnt signaling pathways. These molecular clusters show a different biochemical phenotype and clinical behavior; they may also represent the prerequisite for implementing customized therapy and follow-up.

A case report of late detection of primary mediastinum herm cell tumor

Germ cell tumors are rare malignant neoplasms. Extragondal localization accounts for about 10% of all germ cell tumors, with up to 3% being mediastinal. The low incidence, along with a nonspecific clinical presentation, complicates initial diagnosis and leads to delays in diagnosis and the initiation of specific treatment. Primary care plays a crucial role in detecting such tumors and in patient routing. At the outpatient stage, the patient should be examined and referred to a specialized facility for specific treatment as quickly as possible. For differential diagnosis at the initial stages between mediastinal germ cell tumors and lymphoproliferative diseases, mediastinal sarcomas, thymomas, and others, monitoring tumor markers is necessary: alpha-fetoprotein (AFP), beta-human chorionic gonadotropin (beta-HCG), and lactate dehydrogenase (LDH). When these markers are elevated and time is critical, it is permissible to start specialized antitumor treatment without histological confirmation.Currently, it is also important to consider the role of the new coronavirus infection, which complicates differential diagnosis at the initial stages. This article presents a clinical case of late detection of a germ cell tumor and attempts to conduct systemic therapy in the context of the disease’s complicated progression.

Difficulties in the diagnosis and treatment of germ cell tumors based on a clinical case

Germ cell tumors (GCT) are a group of rare malignant neoplasms. At the same time, the group of patients with this pathology is mainly young people aged 25–35 years. Taking into account the rarity of the disease and the young age of patients, there may often be difficulties in diagnostics and treatment of this malignant tumor. On the example of the described clinical case of a patient with seminomatous GCT the most frequent problems that specialists may encounter in the treatment of this pathology are presented.

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

Introduction and Importance: Gastric glomus tumors (GGT) are rare soft tissue tumors of the gastrointestinal tracts (GIT). It is somewhat challenging to establish the diagnosis of GGT and differentiate it from the more common submucosal neoplasms. Case Presentation: A 34-year-old female patient presented with upper gastrointestinal bleeding. Extensive workup including endoscopic ultrasonography (EUS) revealed a well-circumscribed isoechoic mass arising from the muscularis propria. Based on fine needle biopsy (FNB) findings, with H&E stains performed only initially, the mass was considered a neuroendocrine tumor (NET). Antrectomy with Billroth II anastomosis was performed. A microscopic and immunohistochemical studies of the resected specimen showed the cells to be positive for smooth muscle actin (SMA) making GGT the final diagnosis. Clinical Discussion: Of the 116 patients included in our analysis, 56.9% (n=66) were females and age group was between 41-64 years old in 63.8% (n=74) of the patients. About 55 cases (47.4%) had abdominal or epigastric pain or discomfort, which was the most frequent clinical symptom. In immunohistochemistry, SMA staining is present in 68.1% of the cases, underscoring its diagnostic significance. Laparotomy with wedge or partial gastrectomy was employed in 46.1% of the recorded cases. Due to malignant potential, long-term follow-up and monitoring are usually recommended. Conclusion: Despite the rarity of GGT, they should be included in the differential diagnosis of gastric submucosal tumors, with immunohistochemistry studies playing a major role in the diagnosis. Furthermore, a comprehensive evaluation of the literature in the past eight years was presented in a table.

A Rare Case of Cutaneuos Angioleiomyoma: A Case Report

Cutaneous Angioleiomyoma is a very rare benign tumour of which incidence is unknown. We report a case of a 42-year-old male patient who presented with a symptomless solitary nodule over the left nostril for one and a half years duration. Complete surgical excision of the tumour was done and the sample was sent for histopathological examination. Diagnosis of this tumour was done on the evidence of histopathological examination with haematoxylin and eosin mounts. Sometimes achieving the best aesthetically accepted results may be challenging due to the site of involvement.

Low-grade Papillary Nasopharyngeal Adenocarcinoma: A Clinicopathologic Series of 35 Cases.

Low-grade nasopharyngeal papillary adenocarcinoma (LGNPPA) is a rare neoplasm originating from the surface mucosal epithelium in the nasopharynx. To clarify its clinicopathologic, immunohistochemical, and molecular features, we retrospectively enrolled 35 patients diagnosed with LGNPPA between May 2016 and March 2024. Our cohort consisted of 14 male and 21 female patients aged 11 to 71 years (median: 37y). The most common symptoms were rhinorrhea and nasal obstruction. Most tumors originated from the roof of the nasopharynx and were clinically staged as T1N0M0. None of the patients had a history of thyroid tumors. Microscopically, most of the LGNPPA were composed of irregular papillary structures covered with single-layer columnar or cuboidal epithelium. Eighteen cases (18/35, 51.4%) showed squamous epithelium coverage, and 9 cases (9/35, 25.7%) showed the characteristic transformation of squamous epithelium into neoplasm. Squamous differentiation and a significant spindle cell component were noted in 9 cases (9/35, 25.7%) and 26 cases (26/35, 74.3%), respectively. All cases were positive for thyroid transcription factor-1 protein, CK7, EMA, and Galectin-3 but negative for thyroglobulin, PAX8, and Napsin A. Ki-67 labeling was low and ranged from 2% to 5%. The Epstein-Barr virus or human papilloma virus infection and BRAF V600E mutation were not detected in any of the cases. All patients underwent endoscopic surgical resection, and 4 patients received radiotherapy followed by endoscopic surgery. Complete follow-up data were available for 33 patients. All patients had no recurrent or metastatic disease in the last follow-up (3 to 88mo). A definitive diagnosis depends on histopathology and immunohistochemistry studies. The optimal treatment for patients with LGNPPA is total excision. Given the extremely indolent biological behavior of LGNPPA, it may be more appropriate to classify it as a primary papillary epithelial tumor rather than an adenocarcinoma of the nasopharynx.

Malignant melanotic nerve sheath tumor

Malignant melanotic nerve sheath tumor, previously known as melanotic schwannoma, is a rare variant of peripheral nerve sheath tumor composed of melanin-producing Schwann cells and clinically misdiagnosed as melanoma. Malignant melanotic nerve sheath tumor is a rare tumor with uncertain biological behavior and variable treatment recommendations. Despite the histological features that seem benign, with a low proliferation index, the clinical course of this tumor often becomes malignant, with a high frequency of local relapses and the presence of tumor metastasis signs. Distinctive features of malignant melanotic tumor of the nerve sheath are a relatively young age of patients, the presence of the Carney complex signs and psammomatous bodies in the tumor. The article presents a case of malignant melanotic tumor of the nerve sheath localized in the neck with a recurrent course. In the described clinical observation, the patient underwent surgical treatment twice. Microscopic and immunohistochemical analysis of postoperative materials gave a positive result for melanoma markers and showed the absence of psammoma bodies and low mitotic activity. The clinical course of the disease was malignant, with the appearance of a relapse in the postoperative scar. Diagnosis of malignant melanotic tumor of the nerve sheath is a complex task, both from the radiological and pathological points of view. Communication between the surgeon, radiologist and pathologist, understanding the anatomical relationships of the lesion and careful attention to the histological findings are critical to making the correct diagnosis.

Unprecedented presentation of pelvic synovial sarcoma: A compelling case report

Synovial sarcoma (SS) is a rare tumor that typically arises in various body regions, with its manifestation in the abdominal-pelvic area being exceptionally uncommon. However, despite its rarity in this location, it often metastasizes to the thorax. Despite its slow growth, it can be misdiagnosed as benign in less than 10% of cases. Diagnosis necessitates identification of the SYT-SSX fusion transcript, alongside immunohistochemical and cytogenetic assessments. Treatment involves surgical resection followed by radiotherapy for localized tumors, while chemotherapy is necessary for metastatic cases. Despite treatment, synovial sarcomas have a high recurrence rate, with about half recurring within two years. We report the case of a 73-year-old patient from sub-Saharan Africa who presented to the emergency room with obstructive symptoms, revealing a mass near the anus compressing the rectum upon imaging, causing an obstructive syndrome. Despite initial tumor resection, histological analysis identified a neurofibromatous origin. Twenty months later, recurrence prompted a hospital visit, revealing thoracic metastases necessitating surgery and chemotherapy. Subsequent analysis confirmed perianal synovial sarcoma. This case underscores the rarity of pelvic-anal synovial sarcoma and emphasizes the importance of early detection and proper management. Synovial sarcoma should figure prominently on the list of differential diagnoses of high-grade pelvic masses due to the importance of adjuvant chemotherapy.

Solid pancreatic masses: What’s hidden beneath? Insights into rare pancreatic lesions

The diagnostic approach to solid pancreatic masses has significantly evolved from the era when a focal pancreatic mass was almost synonymous to pancreatic ductal adenocarcinoma, to a wide spectrum of pancreatic lesions, some of which have good prognosis. With the advent of advanced diagnostic tools, particularly refined imaging and tissue acquisition techniques, a broader spectrum of differential diagnoses has been recognized, encompassing conditions ranging from neuroendocrine tumors or inflammatory masses, to rare entities like metastatic clear cell sarcoma or solitary fibrous tumors. We herein discuss case reports of some rare pancreatic lesions, which were diagnosed by combining clinical and imaging features and endoscopic ultrasound-guided tissue sampling and confirmed on surgical specimens. Further reports on these rare pancreatic tumors will contribute to a better understanding of their pathogenesis and effective management.

Pancreatic insulinomas: Our 15-year surgical experience.

Insulinomas are rare endocrine tumors of the pancreas. The majority are benign, sporadic, and solitary. Surgery is the only curative treatment. In this study, we present our experiences with the perioperative management of sporadic and benign pancreatic insulinomas. Patients who underwent surgery for pancreatic insulinoma in our clinic between 2008 and 2023 were retrospectively reviewed. Demographic data, preferred radiological methods, surgical procedures, and morbidity and mortality data were evaluated. Patients with malignant, invasive, or familial multiple endocrine neoplasia mutations were excluded from the study. Nineteen patients underwent surgery, with a median age of 49 years (range: 33-85). Symptoms related to hypoglycemia were the most commonly observed. The tumor location was identified preoperatively in 74% of cases using computed tomography. Palpation and intraoperative ultrasound identified the tumor location in 88% of patients. Enucleation (53%) were the most common surgical procedures. Pancreatic fistula occurred in three patients (17%). While serious morbidity was lower in patients who underwent enucleation, the rate of fistula formation was higher. The accurate localization of insulinomas plays a crucial role in determining the appropriate surgical procedure. With high success rates and lower morbidity, enucleation is the recommended procedure for suitable patients.

Primordial Odontogenic Tumor: A Decade Post-Description Systematic Review.

Primordial odontogenic tumor (POT) is a rare benign tumor arising from odontogenic epithelium and ectomesenchyme. It typically presents in children and young adults. POT is often found in the posterior mandible and frequently presents as asymptomatic swelling. A systematic review of the literature was conducted to comprehensively analyze the clinicopathologic features of this rare entity over the past ten years. A systematic review of POT case series and case reports following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement guidelines was performed. Data on demographics and clinical characteristics, including age, sex, clinical presentation, duration of the lesion, location, and radiographic and histological features, were extracted. A quantitative description of immunohistochemical studies reported in the literature was also performed. Treatment, a follow-up period, and recurrence were collected for analysis. This review included 26 studies involving 36 POT cases. Patients often presented with asymptomatic swelling at a median age of 12 years, with a male-to-female ratio of 1.18:1. The posterior mandible was the most commonly affected site, while three cases were noted in the anterior region exclusively in the maxilla. Most lesions appeared as unilocular radiolucencies with well-defined borders; however, five cases exhibited fine trabeculation or radiopacities. The primary histological features observed in POT included ectomesenchymal stroma lined by columnar cells with nuclear reverse polarity. Most cases were treated through enucleation and curettage (50.0%), followed by tumor excision (36.1%). Only one case demonstrated recurrence among the 29 cases with known follow-up information. This study offers comprehensive and current descriptive data on POT, enhancing the ability of clinicians and pathologists to accurately identify these rare lesions and thereby avoid misdiagnosis and inappropriate management.

Hybrid surgical approach for a large schwannoma from the cervical esophagus to the upper thoracic esophagus: a case report

BackgroundEsophageal schwannoma is an extremely rare esophageal submucosal tumor. We report a case of a hybrid surgery for a large esophageal schwannoma that had extended from the cervical to the upper thoracic esophagus by using thoracoscopic and cervical approaches.Case presentationA 58-year-old male was referred to our hospital for further examination and treatment of dysphagia and weight loss over the past 6 months. Upper gastrointestinal endoscopy revealed a 5.7-cm submucosal tumor from the cervical esophagus to the upper thoracic esophagus. The submucosal tumor was diagnosed as esophageal schwannoma by endoscopic ultrasound-guided fine-needle aspiration biopsy (EUS-FNA). Contrast-enhanced CT showed that the tumor had not invaded surrounding organs. Since the tumor extended from the cervical esophagus to the upper thoracic esophagus, we decided that it should be resected by not only the cervical but also the thoracoscopic approach. In operation, the patient was first placed in the prone position, and a thoracoscopic dissection of the upper thoracic esophagus containing the tumor was performed from the surrounding area. After changing the patient’s position from prone to supine, a cervical skin incision was performed, and we underwent the tumor enucleation. After enucleation, the esophageal wall was thinned, so the right sternocleidomastoid muscle was used to reinforce the esophageal wall. The tumor size of the specimen was 60 × 52 × 42 mm. The postoperative course was uneventful, and the patient was discharged on the 22nd day after surgery.ConclusionsEnucleation of a large esophageal schwannoma from the cervical to the upper thoracic esophagus could be safely performed using both thoracoscopic and cervical approaches. The sternocleidomastoid muscle flap is useful in the occasion considering stenosis by muscular layer suture.

Lipoleiomyoma of the uterus in a woman of reproductive age (clinical case)

Uterine lipoleiomyoma is one of the variants of uterine leiomyoma, which is histologically represented by the presence of mature fat and smooth muscle cells. The relevance of the coverage of this clinical case is determined by the extreme rarity of the development of uterine lipoleiomyoma in women of reproductive age. The purpose of this work was to record this clinical case in the world statistics of lipoleiomyoma, to evaluate methods of diagnosis and differential diagnosis, to determine the role of early diagnosis of uterine lipoleioma in the subsequent tactics and scope of surgical treatment. Data from the medical records of a 41-year-old inpatient were analyzed. In addition to the generally accepted clinical and biochemical methods of blood and urine examination, electrocardiogram, ultrasound examination of the pelvic organs, the level of ovarian tumor markers in the blood (CA 125, HE4 and the ROMA index) was determined. The diagnosis of the disease was based on the data of pathohistological and immunohistochemical studies. Based on the results of a review of the medical literature, analysis of articles obtained as a result of a search of PubMed, SCOPUS, Web of Science, MedScape databases, the current state of the problem is highlighted, literary data related to the incidence, features of the clinical course, diagnosis and treatment of uterine lipoleiomyoma are summarized. The clinical case presented in the article demonstrates an incidental finding of a uterine lipoleiomyoma in a woman of reproductive age, measuring 30x25x20 cm, originated subserously from the body and cervix of the uterus, in the area of its isthmus. Under this condition, it occupied the entire Douglas space, the area of the sacro-uterine ligaments and the parietal peritoneum, intimately adjacent to the sigmoid and rectum, to the ureters and iliac vessels. The peculiarity of this clinical case is that sonographically uterine lipoleiomyoma was hidden under the "mask" of a dermoid cyst of the right ovary. Macroscopically, it differed from a typical lipoleiomyoma by the purple-bluish color of its outer surface and soot-colored, fine-lobed spongy structure on the section. The diagnosis of uterine lipoleiomyoma was verified only on the basis of pathohistological and immuno­histochemical research. Microscopically, the lipoleiomyoma had a mesenchymal structure with a pronounced vascular component and consisted of mitotically inactive bundles of smooth muscle cells and mature adipocytes. Im­munohistochemically, a positive reaction for caldesmon, desmin, smooth muscle actin alpha of tumor cells and for S.100 (DAKO, polyclonal) fatty cells was detected, which confirmed the hypothesis of direct transformation of smooth muscle cells existing in the leiomyoma of the uterus into fatty cells. This clinical case should complement the global statistical indicators of diagnosis of uterine lipoleiomyoma in women of reproductive age. Lipoleiomyoma should be considered as the primary diagnosis in case of detection of a large uterine tumor in women with excess body weight and be removed immediately after diagnosis, otherwise it is impossible to exclude its malignancy. For the planned diagnosis of neoplasms of the female genital organs, preference should be given to non-invasive research methods: magnetic resonance or computer tomography with contrast enhancement. The problem of these tumors lies in their unpredictable histogenesis, the unexpected presence of fat in the microscopic structure, and in the visual similarity to sarcomas. Verification of the diagnosis is carried out on the basis of pathohistological and immunohistochemical studies of the tumor preparation. Uterine lipoleioma can have a purplie-bluish color and develop by a broad base from the body and cervix of the uterus, as a result of "lipomatous" metaplasia of the uterine leiomyoma existing in a woman. Regular preventive examinations of women of all ages are crucial for timely detection of this rare neoplasm.