Nonepithelial Tumors Research Articles

Rare Head and Neck Cancers and Pathological Diagnosis Challenges: A Comprehensive Literature Review

Head and neck cancers (HNCs) arise from anatomically adjacent sites and subsites, with varying etiological factors, diagnostic strategies, prognoses, and treatment approaches. While conventional squamous cell carcinoma (SCC) is the most common histology in the head and neck district, HNCs encompass a variety of rare histopathological entities, categorized into epithelial tumors such as salivary gland cancers, sinonasal tumors, neuroendocrine tumors, malignant odontogenic tumors, and SCC variants versus non-epithelial tumors including soft tissue sarcomas, mucosal melanomas, and hematological malignancies. Rare HNCs (R-HNCs) represent a diagnostic and clinical challenge, requiring histopathological expertise, the availability of peculiar molecular analysis, and the personalization of local and systemic treatments, all guided by a multidisciplinary tumor board. Here, we provide a comprehensive literature review on R-HNCs, emphasizing key histopathological and molecular characteristics that are crucial for guiding treatment decisions. An insight about the latest developments in systemic treatments is also reported.

Nationwide questionnaire survey on pediatric pancreatic tumors in Japan.

Pediatric pancreatic tumors are rare and account for < 0.1% of all childhood cancers. The primary treatment for pancreatic tumors is surgical resection. However, because of the lack of knowledge regarding pediatric pancreatic tumors, no comprehensive treatment plans for pediatric pancreatic tumors have been developed. To compared the clinical features, treatment methods, and prognosis of pediatric pancreatic tumors in Japan with those in other countries. Questionnaires were sent to 213 pediatric surgical units in Japan. Pancreatic tumors that were not surgically treated were excluded from the survey. The primary survey investigated the number of patients aged 0-18 years who underwent pancreatic tumor surgery and the type of tumors managed during the 22-year study period (from January 1, 2000 to December 31, 2021) by post card. The secondary survey assessed the clinical images, treatment methods, and tumor outcomes via email. The primary survey enrolled 228 patients. In the secondary survey, 213 patients were eventually enrolled. The most common type of pancreatic tumor was solid pseudopapillary neoplasm (SPN) [n = 164 (77.0%)], followed by pancreatoblastoma [n = 16 (7.5%)], pancreatic endocrine tumor [n = 14 (6.6%)], non-epithelial tumor [n = 9 (4.2%)], pancreatic tumor [n = 7 (3.3%)], and metastatic pancreatic tumor [n = 3 (1.4%)]. Overall, 123 (57.7%) patients underwent distal pancreatectomy, of whom 49 underwent laparoscopic surgery. Forty-four (20.7%) patients underwent enucleation, of whom eight underwent laparoscopic surgery. Thirty-two (15.0%) patients underwent pancreaticoduodenectomy, of whom one underwent laparoscopic surgery. All patients with SPN, including those with distant metastases and recurrent disease, survived. SPN was more common in Japan than in other countries. Regardless of the histological type, resection is the most effective treatment for pediatric pancreatic tumors.

Molecular Markers in the World Health Organization Classification of Head and Neck Tumors, Fifth Edition.

The past decade has seen exponential advancements in molecular markers and the genetics of tumors, recognizing the limitations of conventional histopathology for grading, classification, and prognostication. Such advances have resulted in changes to classification systems, for example, with the incorporation of objective molecular and genetic information into the 2021 World Health Organization (WHO) classification of central nervous system tumors. The fifth edition of the WHO classification of head and neck tumors (HN5) (beta online version, 2022) also introduced major changes based on molecular markers, including additions, deletions, and reclassifications of entities, with the idea of being more objective and standardized. These changes are highly relevant to therapy decisions, prognosis, and clinical research and for patients with resistant diseases to explore options in clinical trials. The HN5, for the first time, included a radiologist as a member of the writing team to incorporate pertinent imaging findings into the classification. It is important for the radiologist, as an integral part of the multidisciplinary team, to be up to date about these changes for a better understanding of tumor biology, to integrate this into their clinical practice, and to provide more value in their interpretations. The authors provide a basic understanding of pathology and genetics for the radiologist, highlighting the molecular changes in epithelial (including squamous cell) and nonepithelial tumors of the head and neck. The authors also highlight newly recognized and reclassified tumor entities and provide a brief discussion on the genetic tumor syndromes. ©RSNA, 2024 Supplemental material is available for this article. See the invited commentary by Junn and Baugnon in this issue.

Extensive resection of a giant sinus osteoma in a 73-year-old patient with exophthalmos

&lt;b&gt;Introduction:&lt;/b&gt; Osteomas are among the most common non-epithelial benign tumours of the facial skeleton, most often of the paranasal sinuses. They are usually asymptomatic and detected accidentally during head imaging tests. Sometimes, however, they cause severe conditions such as headaches, vision deficiencies, or facial deformation.&lt;b&gt;Case report:&lt;/b&gt; This study presents the case of a 73-year-old patient who consulted a doctor due to increasing exophthalmos of the right eye, nasal congestion, and recurrent headaches. A computed tomography (CT) scan of the paranasal sinuses revealed an extensive, calcified, irregularly shaped pathological mass filling these structures. The lesion was completely excised using an external approach. Histopathological examination confirmed the clinical diagnosis of osteoma.&lt;b&gt;Discussion:&lt;/b&gt; The case report reviews the literature, describes the most common locations of osteomas in the paranasal sinuses, includes possible etiopathogenesis, and compares surgical methods.&lt;b&gt;Conclusions:&lt;/b&gt; Symptoms associated with osteomas in the craniofacial region depend on their size and location. The method of choice in symptomatic cases is surgical removal. Medical imaging can help decide on the surgical procedure. Endoscopic excision is less traumatic for patients and facilitates tissue healing. Due to the large extent of the tumour, its specific location, and the patient’s health condition, an external surgical approach may be necessary.

A Rare Cause of Macroscopic Hematuria: Ureteral Fibroepithelial Polyp: A Case Report

Fibroepithelial polyps are rare, benign, non-epithelial tumors of the urinary system. They can occur throughout the entire urinary system, including the renal pelvis, ureter, bladder, and urethra, which are lined with urothelium. These polyps originate from the stromal structure, formed by the combination of mesodermal and urothelial cells. The most common clinical complaint of patients with fibroepithelial polyps is unilateral flank pain. In some cases, this pain may be accompanied by hematuria, dysuria, and pollakiuria, which are irritative lower urinary tract symptoms. In this case report, a case of a giant ureteral fibroepithelial polyp in a patient who was admitted to our clinic with macroscopic hematuria and left flank pain was presented. Following the diagnosis of a giant polyp in the left ureter, we treated the patient with endoscopic ablation using a Holmium-YAG laser device under ureteroscopy guidance.

A case of gallbladder hemangioma detected in a patient with jaundice and suspected Klatskin tumor: case report and review of the literature

Background and objectiveThe diagnosis and treatment of benign tumors of the gallbladder and bile ducts are difficult due to their anatomical relationships with neighboring vital organs. Hemangiomas are non-epithelial benign tumors of the gallbladder. The gallbladder is an extremely rare localization for cavernous hemangiomas. To date, 7 cases of cavernous gallbladder hemangioma have been reported in the literature. Although it is seen very rarely, the main problem is that it mimics malignant lesions. Pre-operative diagnosis of gallbladder hemangiomas is difficult. Ultrasound (US), computed tomography (CT) magnetic resonance imaging(MRI), endoscopic ultrasound (EUS), and angiography are helpful in differential diagnosis.Here, we aimed to present our case, which is the first case of cavernous gallbladder hemangioma and obstructive jaundice in the literature.Case presentationA 49-year-old female patient was admitted with the complaint of pain in the right upper quadrant of her abdomen. Bilirubin levels were high due to obstructive jaundice. Abdominal CT and MRI showed an appearance in favor of hemangioma in the gallbladder. There was an increase in bile duct wall thickness on MRCP, and it was evaluated as suspicious for malignant neoplasia. The patient was operated on, and extrahepatic bile duct resection + Roux-en-Y hepaticojejunostomy procedure was performed. As a result of histopathology, hemangioma was detected in the gallbladder. There was no malignancy in the bile ducts.ConclusionIt should be kept in mind that the mass detected in the gallbladder in a patient with jaundice who is suspected of having a bile duct tumor may also be a hemangioma.

Application of a hybrid approach to the removal of large esophageal schwannoma

Introduction. Esophageal schwannoma is a rare spindle cell tumor derived from Schwann cells. To date, only 17 cases of esophageal schwannoma have been reported, with most of them occurring in women over the age of 50 years. Surgical interventions using open (cervical approach, extirpation of the esophagus with simultaneous plasty of the gastric tube) and thoracoscopic approaches have long been considered standard methods of treating patients with nonepithelial tumors of the esophagus, but currently minimally invasive endoscopic interventions are widely used. Clinical case. The patient, 64 years old, was treated at the Vishnevsky National Research Medical Center for Surgery for a large schwannoma of the esophagus. Results. This article presents a rare clinical observation - removal of a large schwannoma of the esophagus using a hybrid approach. During a control endoscopic examination 4 months after surgery, no signs of residual tumor fragments, narrowing or pathological changes in the mucosa were found in the area of the previously performed dissection. Conclusion. The use of a hybrid approach for removing a large non-epithelial tumor of the esophagus using endoscopic dissection in the submucosal layer and subsequent extraction through the cervical approach made it possible to perform organ-saving surgery, minimize the risks of possible intraoperative and postoperative complications, thereby leading to a good clinical and functional result.

Impact of demographic and clinical-pathomorphological factors on the number of removed lymph nodes in complicated colon cancer

Aim: analysis of the influence of demographic and clinicopathologic factors on the lymph nodes yield in complicated colon cancer. Materials and methods: The cohort retrospective study included data on 227 patients with complicated colon cancer, including: group 1 — n = 76 cancer of the right colon cohort; group 2 — n = 151 cancer of the left colon cohort. Inclusion criteria: patients aged 18 years and older with colon adenocarcinoma of varying degrees of differentiation complicated by obstructive obstruction or perforation. These patients underwent operations within 24 hours from the moment of admission for the period: September 2016 to December 2022 in the hospitals of the Smolensk. Not included in the study: patients with emergency interventions for obstructive obstruction and perforation complicating the course of rectal cancer, non-epithelial malignant tumors, colon carcinoid, appendix adenocarcinoma; patients with stage IV disease. Results: The median age at the time of complication was 72 years for right colon cancer and 74 for left colon cancer. Most patients had local tumor status pT3, pT4a and pN+(1b–2b) status in regional lymph nodes. The average tumor size in complicated cancer of the right colon cohort was 55.4 ± 23.5 mm, the left colon cohort — 49.3 ± 18.0 mm. The median number of lymph nodes examined was 11 (5–15) for right colon cancer and 7 (3–15) for left colon cancer. Statistically significant factors that had a substantial impact on the number of removed lymph nodes were: age at the time of diagnosis — up to 70 years, local tumor status pT3 and pT4a, tumor localization in the right half of the colon, the presence of metastases in regional lymph nodes, low differentiation of adenocarcinoma. Conclusion: The results obtained confirm that the lymph nodes yield is affected by demographic factors (age) and clinical and pathomorphological factors, such as tumor localization, local status and size of the tumor, and the degree of differentiation of adenocarcinoma.

Abstract 3419: Demographic, health history, and lifestyle factors in association with biomarkers of colorectal cancer prognosis: A pilot study

Abstract Background/Objectives: Multiple demographic, health history, and lifestyle factors have been associated with prognosis of colorectal cancer (CRC), but the mechanisms underlying these associations remain poorly understood. Knowledge of these mechanisms could reveal new strategies to improve outcomes among CRC patients. The primary objective of this project was to explore the association of these factors, which were assessed pre-diagnostically, with expression of two biomarkers in CRC tumors, SPARC and PD-L1, for which lower and higher levels of expression, respectively, have been previously associated with poorer CRC prognosis. Methods: Participants were drawn from the British Columbia Generations Project (BCGP). At the time of recruitment, they completed a detailed questionnaire that ascertained demographic factors (e.g., biological sex and household income), health history (e.g., personal history of CRC screening), and lifestyle factors (daily fruit and vegetable consumption and alcohol consumption). Formalin-fixed paraffin-embedded blocks (FFPE) with adequate volumes of tumor were obtained for 49 incident CRC cases diagnosed within the BCGP. Cores were extracted from the blocks to create tumor tissue microarrays (TMAs). Slides created from thin sections of the TMAs were stained with SPARC and PD-L1 antibodies and then imaged and analyzed to calculate H-scores as measures of expression in both epithelial and non-epithelial tissues. Linear regression analyses were conducted to evaluate associations between the various factors and ln-transformed H-scores. Results: Compared to non-smokers, smokers, on average, had 47% lower SPARC H-scores (p=0.05) in the epithelial tissues of their CRC tumors. Individuals with incomes higher than $74,999/year had 33% higher SPARC H-scores (p=0.04) in their CRC tumor non-epithelial tissues than those who earned less than $74 999/year. Females had 2.8-fold greater PD-L1 H-scores (p=0.005) in their CRC tumor epithelial tissues than males. Compared to those without a history of CRC screening, those with a history of CRC screening had 2.2 and 2.0-fold greater PD-L1 H-scores in their epithelial and non-epithelial CRC tumor tissues, respectively. Conclusion: Larger-scale studies with prognostic data are needed to confirm our findings, but our results suggest that differences in the expression of SPARC and PDL-1 may contribute to the previously observed impacts of some demographic, healthy history, and lifestyle factors on CRC prognosis. Citation Format: Umaimah Zanif, Isabella Tai, Stephen Yip, Sindy Babinszky, Katy Milne, Peter Watson, Rachel Murphy, Parveen Bhatti. Demographic, health history, and lifestyle factors in association with biomarkers of colorectal cancer prognosis: A pilot study [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 3419.

A rare case of recurrent anemia with giant lipoma of jejunum: A case report

Lipoma of the gastrointestinal tract is a rare, benign, usually single, slow growing, non-epithelial neoplasms derived from mature adipocytes.3 The colon is the commonest site of the digestive tract with an incidence rate ~4.4%. Most of the lipomas are asymptomatic and incidentally detected.3 Lipoma should be differentiated from true neoplasia, because in most of the cases they do not need any intervention unless they cause a symptom or are large in size.3 Endoscopic resection is preferred for lipomas &lt; 2cm and surgery for lipomas &gt; 2cm to avoid complication such as bleeding and perforation. We report a case of a 40-year-old male, who was found to have 15cm jejunal lipoma by imaging and confirmed by histopathology.

Cytodiagnosis of pleural effusions according to the International System for Reporting Serous Fluid Cytopathology: retrospective analysis of oncological dispensary experience

BACKGROUND: The International Serous Fluid Cytopathology Reporting System (TIS RSFC) was proposed in 2020 to standardize cytological reports and include information on perceived risk of malignancy in reports. It is necessary to analyze the use of TIS RSFC to determine the principles of rational practical implementation and possible improvement of this classification.&#x0D; AIM: To assess the possibility and results of the application of TIS RSFC (2020) in the cytodiagnosis of pleural effusions using the organizational technologies and resources of a regional oncological dispensary.&#x0D; METHODS: This observational, retrospective, crossover study carried out a comparative analysis of reports following cytological examination of pleural effusion with clinical and anamnestic information, histological, immunohistochemical results of 1507 patients of the Altai Regional Oncological Dispensary (Barnaul) from 2019 to 2021. The microscope slides were prepared by the traditional smear method, as well as by liquid cytology methods. Papanicolaou and Pappenheim staining methods were used. In certain cases, immunocytochemical tests were performed additionally.&#x0D; RESULTS: The following numbers of cytological reports corresponding to the TIS RSFC categories were formulated: non-diagnostic material, C I — 11 (0.7%); absence of malignant tumor cells, C II — 946 (62.8%); atypia of unknown significance, C III — 61 (4.0%); suspicion of a malignant process, C IV — 13 (0.9%); malignant process, C V — 476 (31.6%). Within category C V there were 37 (7.8%) cases of the primary tumor — mesothelioma; 398 (83.6%) cases of metastatic tumors, including 41 (8.6%) cases of non-epithelial tumors. Immunocytochemical tests of pleural fluid were performed in 273 (18.1%) cases. Risk of malignancy was 9.1% (1/11) for C I; 1.2% (11/946) — for C II; 59.0% (36/61) — for C III; 84.6% (11/13) — for C IV, and 100% — (476/476) for C V. Cytodiagnosis with immunocytochemistry in unclear cases was characterized by a sensitivity of 92.5%, a specificity of 100%, a positive predictive value of 100%, a negative predictive value of 88.5%, and an accuracy of 96.6%.&#x0D; CONCLUSIONS: The application of TIS RSFC (2020) in cytological tests of pleural fluid does not cause difficulties for specialists in cytological laboratory. If the required diagnostic accuracy of cytological tests is available, this system makes it possible to characterize the risk of malignancy and thus guide the oncologist in the case management. The liquid-based cytology and the addition of traditional cytological techniques with immunocytochemical tests increase the cytodiagnostic sensitivity.

The Relationship between Trop-2, Chemotherapeutic Drugs, and Chemoresistance.

Trop-2 is a highly conserved one-pass transmembrane mammalian glycoprotein that is normally expressed in tissues such as the lung, intestines, and kidney during embryonic development. It is overexpressed in many epithelial cancers but is absent in non-epithelial tumors. Trop-2 is an intracellular calcium signal transducer that participates in the promotion of cell proliferation, migration, invasion, metastasis, and probably stemness. It also has some tumor suppressor effects. The pro-tumoral actions have been thoroughly investigated and reported. However, Trop-2's activity in chemoresistance is less well known. We review a possible relationship between Trop-2, chemotherapy, and chemoresistance. We conclude that there is a clear role for Trop-2 in some specific chemoresistance events. On the other hand, there is no clear evidence for its participation in multidrug resistance through direct drug transport. The development of antibody conjugate drugs (ACD) centered on anti-Trop-2 monoclonal antibodies opened the gates for the treatment of some tumors resistant to classic chemotherapies. Advanced urothelial tumors and breast cancer were among the first malignancies for which these ACDs have been employed. However, there is a wide group of other tumors that may benefit from anti-Trop-2 therapy as soon as clinical trials are completed.

One High Efficient Detection Panel of Multiparamer Flow Cytometry for Non-Hematopoietic Tumors

Background: In the past half century, flow cytometry has been successfully applied to detection of hematopoietic tumors. In fact, the incidence rate of non-hematopoietic tumors is higher than hematologic malignancies. However, the application of flow cytometry has been limited for a long time due to samples, lack of specific markers and other reasons. With the development of immunological technique, the detection of solid tumors by flow cytometry has attracted renewed attention. We designed a highly sensitive and specific assay panel for multiparameter flow cytometry(MFC) screening, diagnosis and follow-up of non-hematopoietic tumors. Aims:find a highly efficient panel of MFC for screening, diagnosis and follow-up of non-hematopoietic tumors. methods: From Aug. 1st, 2008 to Mar. 31st, 2022, 858 samples from patients with non-hematopoietic tumor were detected in the flow cytometry lab of Hebei Yanda Lu Daopei Hospital, of which 617 samples were BM, 3 PB, 196 cerebrospinal fluid(CSF), 9 Pleural effusion or ascites, 3 lymph node, and 30 fine needle aspiration(FNA) from various tissue. In these 850 person, 476 were males, 374 females, the median age was 4 years old (0-80 years), and the median percentage of tumor cells in the sample was 0.16% (0.01%-96.23%).After rounds of optimization, CD9 FITC/GD2 PE/CD3 percp/CD4 pecy7/CD56 APC/CD36 Apccy7/CD81 BV421/CD45 V500, cytokeratin(CK) or CD326 FITC/HLA-ABC PE/CD38 percp/CD19 pecy7/CD56 APC/CD36 Apccy7/CD7 BV421/CD45V500 were selected as the final detection panel. The analysis was performed using 3 laser 8-10 color canto flow cytometers, and diva/flowjo software. The results were compared with pathological and clinical diagnosis to evaluate the sensitivity and specificity. Results: Firstly, Sensitivity and specificity analysis. Of 858 samples, 567 were positive, of which 442 were BM, 2 PB, 84 CSF, 9 fluid, 2 lymph nodes, and 28 FNA. The coincidence rate was more than 90% with pathology, other laboratory examinations and clinical diagnosis. It covers most of tumors nominated by WHO diagnostic criteria. The coverage and specificity were more than 99%, and the sensitivity was 0.01%. Both false positive rate and false negative rate were less than 1%. Secondly, the selection and verification of immunological markers. The positive rate and specificity of each immunological markers were analyzed in 567 positive samples, as shown in Figure 1. The specificity of CK combined with GD2 in the diagnosis of non-hematopoietic tumors was almost 100%, and the positive rate of CD56 was significantly different between epithelial and non-epithelial tumors. CD3/CD19/CD4/CD38/HLA-ABC/CD36/CD7 is almost not expressed in non-hematopoietic tumors but expressed at least one by almost all hematopoietic cells, which can exclude hematological malignancies. CD9/CD81, as a sensitive but non-specific marker, can assist in judgment, and combined with CD45-/CD36-, exclude non-specific staining to prevent missed diagnosis. Thirdly, tumor sources can be roughly distinguished. PCA (Principal component analysis) can accurately classify epithelial and non-epithelial tumors by analyzing 38 cases of neuroblastoma and 5 cases of epithelial-derived tumors. Flowsom cluster analysis of some common solid tumors in children showed that the expression intensity of different tumor markers was different. As shown in Figure 2. Conclusion: Although the high heterogeneity of non-hematopoietic tumors and the lack of specific immune markers, we found one high sensitive and specific MFC panel for detection of solid tumors after rounds of trials. The panel includes some non-lineage specific markers but commonly expressed in hematologic neoplasms and rarely in non-hematopoietic tumors. Different from the precise classification of euroflow protocol, our panel focuses on the identification of tumor cells, and exclusion of hematological malignancies and non-specific staining. It is an important detection and analysis panel with high coverage, strong practicability, high sensitivity and specificity, which may reduce the rate of missed diagnosis.

Primary Leiomyosarcoma of Breast: A case report from Nepal

Leiomyosarcoma is an uncommon form of breast cancer, accounting for 5-10% of all breast sarcomas with only 704 instances recorded to date. Waterwarth described the first instance of primary leiomyosarcoma breast (PLB) in 1968. This is the first case of PLB documented in Nepal, that we’re aware of. Leiomyosarcoma is a malignant non-epithelial smooth muscle tumor that can occur anywhere in the body. We discuss the case of a 41-year-old female who presented with a breast lump that was subsequently confirmed as Primary leiomyosarcoma and was treated with wide local excision with margins. We've been watching her progress for a year.

A case of extranodal NK/T-cell lymphoma, nasal type, diagnosed by scraping cytology of the maxillary gingiva.

Extranodal NK/T-cell lymphoma (ENKTL), nasal type, is often seen in the head and neck region, but there have been rare instances of this disease with initial presentation as a lesion in the oral mucosa. The patient, a woman in her seventh decade of life, presented with an ulcer in the maxillary gingiva, and scraping cytology and biopsy were performed. Cytological specimens showed solitary or small aggregating cells with marked atypia in a necrotic background. Tumor cells were detected that had various nuclear shapes and azure granules in the cytoplasm. Biopsy showed that the tumor cells had diffusely infiltrated or interdigitated into the subepithelium. Immunohistochemistry revealed that the tumor cells had T- and NK cell phenotypes and were Epstein-Barr virus-encoded small RNA (EBER) positive, leading to a diagnosis of ENKTL. Thus, when nonepithelial tumor cells in a necrotic background and prominent atypia are found, as in this case, it is important to carefully observe for azurophil granules in the cytoplasm for differential diagnosis considerations.

Clinical Observation of Acute Intestinal Obstruction Caused by Giant Granulosa Cell Tumour of the Ovary

Ovarian granulosa cell tumours (OGCT) are non-epithelial neoplasms of the ovaries and belong to the group of granulosa-stromal tumours. The most likely source of these tumours’ development is granulosis of the primordial follicles of the ovary as a result of hormonal imbalance.&#x0D; The aim of the study is to represent a clinical observation of acute intestinal obstruction caused by a giant ovarian granulosa cell macrofollicular tumour.&#x0D; A woman, aged 52 years, medical history № 2579, was admitted to the surgical department of Communal Non-Profit Enterprise (CNPE) City Clinical Hospital (CCH) № 1 in Ivano-Frankivsk as an urgent patient with complaints of nausea, vomiting, delayed passage of flatus and defecation, general malaise, abdominal distention. During the laboratory and instrumental examination, a giant tumour of the abdominal cavity was revealed; it has led to the compression of internal organs and the development of small- and large-intestinal obstruction. The operation was performed: middle-median laparoscopy, removal of a giant cyst of the right ovary. Complete hysterectomy with appendages, drainage of the abdominal cavity were also performed.&#x0D; During the operation, a giant tumour with dimensions of 65x70x50 cm, of dense but elastic consistency, pale-pink in color, with multiple chambers of different diameters filled with cloudy, yellow liquid was revealed. The removed uterus with appendages and a large omentum were also given for pathological examination. Pathohistological examination results included: 15824-8- granulosa-cell ovarian tumour; 15815-7- uterus - plethora; 15818-20-ovary - white bodies, fallopian tube - chronic salpingitis; 15812-4- omentum - focal hemorrhages. The postoperative period was uneventful, the patient was referred to a gynecologist-oncologist for consultation and treatment.

Clinical characteristics, radiologic features, and histopathology of biopsied lacrimal gland tumors

Herein, we described the clinicopathologic and radiologic features of biopsied lacrimal gland tumors. A retrospective case series of 79 patients treated between 2004 and 2021 was reviewed. The median age was 48.9 years (range 18.3–88.3 years), with 51.9% females. The histopathologic diagnoses were as follows: immunoglobulin G4-related disease (IgG4-RD) = 23, reactive lymphoid hyperplasia = 14, lymphoma = 14, nonspecific inflammation = 10, adenoid cystic carcinoma (ACC) = 9, and pleomorphic adenoma = 9. The proportion of histopathologic diagnoses did not differ significantly over the range of symptom durations (≤ 1 month, > 1–3 months, > 3 months). Patients with ACC had significantly shorter symptom duration and more frequent proptosis than those with pleomorphic adenoma (p = 0.040 and p = 0.009, respectively). Patients with IgG4-RD were older (median 54.3 years) than those with nonspecific inflammation (36.2 years; p = 0.046). Patients with ACC were more likely to present with diplopia than those with lymphoma (p < 0.001). The superior wedge sign increased the likelihood of ACC compared with that of non-epithelial non-malignant lacrimal gland tumors (relative risk ratio = 13.44, p = 0.002). The overall survival of patients with ACC and lymphoma did not differ significantly. Although these patients present with a short symptom duration, urgent orbital imaging, tissue biopsy, and prompt treatment should be performed in patients with lacrimal gland tumors.

Preferentially Expressed Antigen in Melanoma Is a Multifaceted Cancer Testis Antigen with Diverse Roles as a Biomarker and Therapeutic Target

Preferentially expressed antigen in melanoma (PRAME) is a cancer testis antigen (CTA) that is selectively expressed in certain somatic tissues, predominantly in the testis, and is overexpressed in various cancers. PRAME family proteins are leucine-rich repeat proteins that are localized in the nucleus and cytoplasm, with multifaceted roles in immunity, during gametogenesis and in the overall reproduction process. It is a widely studied CTA and has been associated with the prognosis and therapeutic outcomes in patients with epithelial and non-epithelial tumors. PRAME has also been studied extensively as a therapeutic target. Moreover, it has been found to play a role in most of the well-known cancer hallmarks. Interestingly, the role of PRAME in tumorigenesis is paradoxical. Over the last decade, PRAME has garnered substantial interest as a target for immunotherapy. There are multiple clinical trials and pre-clinical studies targeting PRAME alone or in combination with other tumor antigens. This review article is an attempt to update our knowledge and understanding of the context-dependent oncogenic functions of PRAME in various carcinomas, and the current immunotherapeutic strategies, challenges, and perspectives on developing newer strategies to target PRAME for a better outcome.

The Impact of Surgery &amp; Chemo in Treating Sex Cord-Stromal Tumors

The Impact of Surgery &amp; Chemo in Treating Sex Cord-Stromal Tumors

Longitudinal follow-up and outcomes of pediatric and adult patients with SDH-deficient GIST.

11542 Background: Gastrointestinal stromal tumor (GIST) are gastrointestinal non-epithelial neoplasms most commonly driven by somatic mutations in KIT or PDGFRA. Approximately ten percent of GIST are due to germline mutations in SDHx or epigenetic loss of expression of SDHC. While KIT and PDGFRa driven GIST respond to treatment with tyrosine kinase inhibitors, effective systemic therapies for SDH-deficient GIST have not yet been identified. SDH-deficient GIST are indolent tumors that typically progress slowly over time. A better understanding of the natural history of patients with these neoplasms is critical to identify effective treatments and improve patient care. A cohort of patients with SDH-deficient GIST is followed at the NIH Clinical Center and through the NIH Pediatric and Wild-type GIST Clinic. The aim of this study is to characterize the long-term outcome of this cohort of patients. Methods: Data from patients with SDH-deficient GIST enrolled in a study Natural History and Biospecimen Acquisition for Children and Adults with Rare Solid Tumors (NCT03739827) from January 2019 through January 2023 at the NIH were evaluated. In addition to review of medical records and imaging, when available, tumors were characterized by sequencing of SDH genes. Germline analysis of SDH genes was offered to consenting patients and families. Results: Clinical information and specimens were collected from 77 GIST patients (median age at diagnosis 21.5, [range 7-57] years; 72.7% (56) female, 21.3% (21) male) were classified by molecular subtypes: 33.8% SDHC epimutation, 28.6% SDHA, 22.1% SDHB, 14.3% SDHC and 1.3% SDHD. Median age at presentation of SDHC epimutation was younger (14.5 years, range: 8-56) when compared to SDHA (27.5 years, range: 7-55), SDHB (22 years, range: 8-54), SDHC (18 years, range: 10-57) and SDHD (39 years, N = 1). Most commonly, patients had at least one surgery (55.8%) while a lower proportion had four or more (7.8%). Primary tumors occurred in the stomach with 26% having metastases at presentation the most common location being the liver (10.4%). Overall, 64.9% of patients were treated with imatinib, 39% were treated with sunitinib and 15.6% received other additional systemic therapies. Within the cohort there were 13% of patients with paragangliomas and 6.5% with chondromas while only 9.1% had a family history of GIST. Conclusions: Longitudinal follow-up of an SDH-deficient GIST patient cohort will allow for better understanding of the natural history including treatment history and survival of patients with this rare disease and will help to optimize strategies for treatment and follow-up of these patients.