Uncommon Tumor Research Articles

Global Publication Trends and Research Hotspots of The Gastric Neuroendocrine Neoplasms: A Bibliometric Analysis of The Current Situation

Objective: Gastric neuroendocrine neoplasms (gNENs) are uncommon tumors, with growing understandings about the disease. Bibliometric analyzes have the advantage of visually depicting the dynamic evaluation of scientific knowledge of a specific topic. The aim of this study was to perform and report bibliometric analysis of gNENs, which was not formerly studied in the literature. Methods: Articles published between 1980 and 2022 within the database of Web of Science Core Collection were included in this bibliometric analysis. Vosviewer package program and Datawrapper were used for bibliometric data interpretation. Results: A total of 2270 articles about gNENs was detected with 63240 citations and an H index of 103. A remarkable increase was detected among the articles for years. Research have focused on gastroenterology and hepatology, endocrinology and metabolism, oncology, general medicine, pathology and surgery areas. Norwegian University of Science Technology was the leading institution about gNENs literature. Modlin IM, had the highest number of articles and citations among the authors. United States, Japan and Italy were the top three countries with the most published articles. Conclusion: This bibliometric study provides an engrossing, insightful conclusion to the research and development trajectory in gNENs with a future perspective.

Giant cell-rich solitary fibrous tumour of the urinary bladder: case report of an unusual histological variant and literature review

BackgroundGiant cell-rich solitary fibrous tumour (GCR-SFT), previously referred to as giant cell angiofibroma, is an uncommon soft tissue tumour that classically occurs in the orbit but very rarely presents in deep organs. Here, we present a case of GCR-SFT occurring in the urinary bladder, which is one of the unusual histological subtypes of SFT.Case presentationA 56-year-old man was incidentally found to have a mass measuring 4.5 × 4.3 × 4.0 cm located in the left posterior wall of the bladder by computed tomography during a physical examination. The lesion was confirmed as GCR-SFT by pathological examination after laparoscopic radical surgery. Histopathologically, the tumour was a well-circumscribed, nonencapsulated lesion that was composed of bland spindle-ovoid tumour cells alternating with hypocellular and hypercellular areas, staghorn-like vasculatures and scattered large dark-stained multinucleate giant cells lining pseudovascular spaces. The spindle-ovoid cells and multinucleate giant cells showed strong and diffuse expression of CD34 and nuclear STAT6. In addition, the hallmark of the NAB2ex4-STAT6ex5 fusion gene was detected by RT‒PCR. The patient was classified as having a low risk of recurrence or metastasis according to the risk stratification criteria. The patient underwent regular follow-up for 34 months after surgery, and there was no evidence of local recurrence or metastasis.ConclusionThis is the first reported case of GCR-SFT occurring in the urinary bladder with underlying NAB2ex4-STAT6ex5 fusion. Complete surgical excision of the tumour and long-term follow-up are recommended to ensure no local recurrence or metastasis.

Virtual planning, guided surgery, and digital prosthodontics in the treatment of extended mandible chondrosarcoma.

Chondrosarcoma is among the most common primary bone tumors in adults. In the mandible, chondrosarcoma is a very uncommon malignant cartilage-producing tumor. This case report shows how virtual planning combined with other digital technologies may improve masticatory function rehabilitation in patients with enlarged mandibular chondrosarcoma. The present study reports a case of a 52-year-old male patient who was initially diagnosed with a mandible chondroma, which was successfully excised with no evidence of malignant transformation. Nevertheless, the patient's symptoms recurred after 10 years, and a subsequent diagnosis of mandible chondrosarcoma was established, prompting the need for subtotal mandible resection and reconstruction with a fibula-free flap. Following a healing period, the patient underwent dental implant surgery to restore the mandibular dental arch, which was performed utilizing computer-aided design and computer-aided manufacturing technology, with fully guided implant placement facilitated by virtual planning. In this case report, the implant position data merging process is described from the digital impression and control model to ensure optimal passive fit of the full-arch zirconia prosthesis and discuss the importance of occlusal adjustments to avoid technical and biological complications. Virtual planning and digital technologies are crucial for the effective management of mandibular defects, allowing for accurate treatment and complete restoration of mandibular function. Their use leads to improved patient outcomes and quality of life. As technology advances, their importance in treating complex medical conditions is only expected to grow.

Outcomes of patients with anal cancer treated with definitive chemoradiation: A single centre experience.

Anal cancers are uncommon neoplasms that make up to <1% of all tumours globally. Concurrent chemoradiation remains the standard of care treatment for patients who present with non-metastatic anal squamous cell carcinomas (ASCCs). We aimed to evaluate the response rate and 2-year survival outcome of the definitive chemoradiation approach in patients with non-metastatic ASCCs of our population. We conducted a cross-sectional review of these patient populations who were treated and then followed after completion of treatment at our institute during the last 10 years. A total of 17 patients were enrolled after fulfillment of the eligibility criteria. The responses were documented in 16 patients through magnetic resonance imaging or computed tomography of the pelvis, done at 3 months of treatment completion. More than 80% of the patients had complete radiological responses. Among the surviving participants, the 2-year disease-free survival rate was found to be more than two-thirds. Approximately 20% of the study participants had disease recurrence during the subsequent clinic visits following treatment completion. This review emphasises the impact of definitive chemo-radiation in achieving radiological and clinical responses in patients with non-metastatic ASCCs. Moreover, to our knowledge, this is the first review to highlight anal cancer's incidence and characteristics in Pakistan.

Huge renal oncocytoma with solid and cystic areas - A case report and review of literature

This abstract presents a rare case of a huge renal oncocytoma, emphasizing its diagnostic challenges, clinical management, and unique characteristics. Oncocytomas are relatively uncommon benign neoplasms, typically found in various organs, including the kidneys, salivary glands, and thyroid. However, the occurrence of an exceptionally large renal oncocytoma poses distinct clinical considerations. We report the case of a patient who presented with a large palpable mass occupying almost whole abdomen with firm to hard in consistency. The diagnostic process involved an imaging studies, including computed tomography (CT) along with histopathological examination of specimen. The diagnostic challenges stemmed from the atypical size and radiological features. Surgical intervention was necessary due to the size of the renal oncocytoma. This case highlights the importance of considering renal oncocytomas in the differential diagnosis of large renal masses, even when their size exceeds typical dimensions. The management of huge oncocytomas involves a multidisciplinary approach, incorporating advanced imaging techniques, pathological assessment, and surgical expertise. Histology of renal oncocytoma in our case is also different as it is showing cystic areas. Immunohistochemistry confirmed the diagnosis of renal oncocytoma. Awareness of these rare cases is crucial for clinicians to guide appropriate diagnostic and therapeutic strategies, ensuring optimal patient outcomes.

Looking through the same lens - Immunohistochemistry for salivary gland tumors: A narrative review on testing and management strategies

Salivary gland tumors are relatively uncommon neoplasms, presenting a diagnostic challenge for both clinicians and pathologists. When performing a biopsy, there is often an impasse between both specialists, with the clinician trying to remove as little tissue as possible and the pathologist in a perpetual quest for more. While immunohistochemistry (IHC), coupled with hematoxylin-eosin staining greatly helps in reaching a precise diagnosis and framing a management plan, there are no existing guidelines for the implementation of IHC panels in the diagnostic work-up of salivary gland tumors. The main objective of this review is to provide an up-to-date summary of the application of IHC in the diagnosis of salivary gland malignancies and the current treatment strategies. For this narrative review, we identified 50 meta-analyses and systematic reviews published between September 2013 and September 2023 using the PubMed and Google Scholar databases, with the keywords, “IHC in salivary gland tumors” and “immunohistochemistry in salivary gland tumors.” We excluded non-peer-reviewed articles, non-human studies, case reports, and series, and articles that were not in English or those for which the full text was not available; we included the remaining 18 articles in our qualitative data synthesis. To summarize the management strategy, we collated and included the key points from the National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology (Head and Neck Cancers, Version 1), 2023 and the American Society of Clinical Oncology guidelines. Our findings reflect that IHC markers, in addition to offering significant prognostic insight and guiding surgical strategy, also help plan hormonal and targeted therapies. A thorough understanding of the clinical implications of various IHC markers ensures informed multidisciplinary communication and helps the clinician and pathologist see things from a common perspective, that is, through the same lens.

Hemmorhagic Cutaneous Ancient Schwannoma of The Mastoid: A Systematic Review

Schwannomas synonymously known as neurilemmomas or neurinomas are uncommon benign neoplasms of neural sheath origin. They account for 5% of all benign soft-tissue tumors. 6%–8% of tumors occur intracranially and 25%–45% occur extracranially in the head-and-neck region, of which cutaneous schwannomas located in the dermis or subcutaneous tissue in the head and neck are an unusual entity. Of the seven subtypes described by Erlandson, ancient schwannoma is a very rare distinctive histopathological variant resulting from long-term degenerative changes and accounts for 0.8% of all soft-tissue tumors. This seminal article is a systematic review of schwannomas in the ear in its entirety from 1977 to 2023 along with a case report of a profusely bleeding cutaneous ancient schwannoma occurring in the mastoid region in a swelling of a short duration of 6 months in a 75 year old female. To the best of our knowledge, this case has two firsts to its credit. It is the first reported case of an ancient schwannoma in the mastoid region and also the first reported case presenting with bleeding from the schwannoma. Due to its rarity, ancient schwannoma must be included in the differential diagnosis for any bleeding mass in the ear to avoid an erroneous diagnosis of malignancy.

Multifocal intraosseous pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma: A rare presentation of an uncommon tumor.

Pseudomyogenic hemangioendothelioma (PHE) is an uncommon mesenchymal neoplasm of intermediate malignant potential showing endothelial differentiation. Around 20 cases of primary osseous PHE have been reported to date. A 16-year-old boy presented with complaints of pain in his right leg. Imaging revealed multifocal intramedullary and cortical-based lytic lesions involving long and small bones. Microscopic examination revealed plump, spindled cells arranged in fascicles and admixed "epithelioid" and "rhabdoid" cells sans vasoformative areas. By immunohistochemistry, the lesional cells were reactive for AE1/AE3, CD31, Erg, Fli1, and SMA, while immunonegative for CD34, myogenin, and S100. Nuclear expression of the INI1/SMARCB1 protein was retained. PHE is a rare entity, more so as a primary osseous lesion; therefore, awareness of the presence of this entity in the bone is the key to making a diagnosis. We discuss its clinicopathological features, differential diagnosis, and an attempt a short review of the literature.

Retroperitoneal cystic lymphangioma in adult female

Abstract One percent of all lymphangiomas are retroperitoneal lymphangiomas, which are uncommon benign cystic lymphatic tumors. Lymphangioma mainly occurs in the age group of &lt;2 years. This report describes retroperitoneal cystic lymphangioma in a 29-year-old female. She had a complaint of abdominal pain in the right lower region. The provisional diagnosis based on computed tomography scan was retroperitoneal mass. By en bloc, resection cyst was completely removed.

Chondromyxoid Fibroma of the Metatarsal Head: A Rare Case Report

Chondromyxoid Fibroma (CMF) is an uncommon non malignant cartilage tumour with a greater predilection for the legs, with about a quarter of cases involving the metatarsals. It accounts for less than 0.5% of all bone tumours and mostly occurs in patients aged 10 to 30 years old. Patients typically present with complaints of pain and swelling in the affected region. Radiologically, a lytic lesion with well-defined margins is observed in the metaphysis. The present case is about an 11-year-old male who presented to the Orthopaedic Outpatient Department (OPD) with a history of pain and swelling over his left foot. Upon examination, a discrete swelling was noted over the lateral aspect of the foot, extending from the head to the shaft of the 4th metatarsal. Upon palpation, the swelling was found to be tender and firm in consistency, accompanied by restricted foot movement. Initially, a giant cell tumour of the 4th metatarsal bone in the left foot was suspected based on radiography. However, histopathological examination led to the diagnosis of CMF. The lesion was curetted, and a below-knee Plaster of Paris (POP) was applied for one month. No recurrence of the lesion has been observed after five months of follow-up.

Conjunctival capillary hemangioma - A rare case

Conjunctival capillary hemangioma is very rare, with few cases being reported in the literature. We present a case of a 60-year-old male with conjunctival capillary hemangioma, a unique case adding to the literature of uncommon vascular tumor. The patient had a mass over the left eye for 20 years, without any associated systemic diseases or cutaneous manifestations. The lesion was imaged with anterior-segment optical coherence tomography and the findings have been presented and the diagnosis was confirmed by histopathology.

A Case of Osteofibrous Dysplasia at Birth: 2-Year Follow-Up

Osteofibrous dysplasia (OFD) is characterized by excessive resorption of long bone, especially tibia, with subsequent fibrous repair of the defect. OFD is an uncommon benign tumor of young children – neonatal presentation is restricted to single digits in literature. We describe a rare case of OFD in a newborn, which presented as unilateral painless lower limb deformity at birth. Radiological findings were suggestive and biopsy was diagnostic of OFD. Postbiopsy, the patient underwent expectant management given the generally slow progression of this condition, the possibility of postbiopsy regression, and the known risk of recurrence after surgical intervention. By 13 months, the lesion had undergone complete radiological resolution with spontaneous reduction of deformity. There has been no recurrence of disease at the same or another site till now (24 months age). There is no limb length discrepancy and motor milestones are appropriate for age; nevertheless, follow-up till puberty has been advised.

Apocrine gland adenoma in a 4-month old golden hamster (Mesocricetus auratus)

Hamsters are popular as pets. Although there are many reports on tumours in laboratory hamsters, tumours in pet hamsters are infrequently reported. The present report describes successful diagnosis, treatment and treatment outcome of apocrine gland adenoma, an uncommon cutaneous neoplasm, identified in the ventral neck region of a 4-month old Golden hamster (Mesocricetus auratus). The initial diagnosis was attempted by cytology. The cytology of benign apocrine glands in hamsters has not been previously described in the literature. Histopathology of the neoplasm was consistent with an apocrine adenoma and positive PAS staining confirmed the secretory nature of the neoplasm. The tumour was surgically excised under local anaesthesia. There was no tumour recurrence or metastasis detected after one year.

Malignant tumors of the small intestine: A case series

Small bowel malignancies are rare, yet their incidence has been rising in the last decade. The main histological types are adenocarcinomas, neuroendocrine and stromal tumors, sarcomas, and lymphomas. The clinical presentation is often nonspecific, making it a challenging diagnosis that results in delayed treatment. We report a case series of four patients who present with non-specific gastrointestinal symptoms and a subsequent diagnosis of a small bowel malignancy. While advanced endoscopic techniques have improved our ability to identify these uncommon tumors, in our case series, the definitive diagnosis was delayed due to the ambiguous presentation. Larger studies are warranted for better diagnosis and treatment of small bowel malignancies.

Elastofibroma Dorsi Detected Incidentally on Chest Computed Tomography: The Prevalence and Reporting Rate in Radiology Reports.

Background Elastofibroma dorsi (ED) is an uncommon benign connective-tissue tumor, usually seen in the subscapular region of women after the fifth decade. The study aimed to determine the prevalence, radiological characteristics, and the rates of mentionin the initial radiology reports of ED incidentally detected by chest computed tomography (CT) imaging in a large population. Methodology This study was conducted at Hitit University, Erol Olçok Training and Research Hospital Radiology Department in Çorum, Turkey. A total of 3,299 patients (1,554 females, 1,745 males)who underwent non-contrast chest CT for various reasons were included in this retrospective study. The presence, side, thickness, and density of ED were investigated in these patients. Differences in gender and laterality were assessed statistically. It was also reviewed whether it was stated in the initial radiology report or not. Results ED was detected in 79 (2.4%) of 3,299 patients, in 60 (75.9%) females and 19 (24.1%) males with a median age of 57.5 years (range, 18-99 years). The risk of ED presence was determined to be 3.65-fold in females than in males. In the cases determined with ED, the median age was 75 years (range, 53-96 years), and ED was not determined in any patient aged <50 years. A statistically significant correlation was determined between age and the presence of ED (p < 0.001). No statistically significant correlation was found between age and ED thickness or density (p = 0.602, p = 0.233, respectively). It was noted that none of the patients were diagnosed in the first radiological report. Conclusions ED can be easily overlooked on cross-sectional examinations because of the similar appearance and density to adjacent structures. Knowledge of the characteristic radiological features of these lesions and increased awareness of radiologists will make early diagnosis possible in asymptomatic cases.

Two resected cases of benign adenomyoepithelioma

BackgroundAdenomyoepithelioma (AME) of the breast is an uncommon tumor characterized by the proliferation of ductal epithelial and myoepithelial cells with the heterogeneity. Although benign AME is relatively easy to differentiate from breast cancer by core needle biopsy (CNB) alone, a definitive diagnosis is often difficult. The imaging findings of AME are also variable, and there are particularly few reports about radiological features, including contrast-enhanced magnetic resonance imaging (MRI) and apparent diffusion coefficient (ADC) values in AME.Case presentationWe present two cases of benign AME. Case 1 is a 30-year-old woman with a history of asthma. The cystic tumor shows smooth borders, and the intracystic solid component is irregular in shape and high vascularity. The pathological findings of the tumor were benign on CNB. The MRI scan showed a decreased ADC value. Case 2 is a 60-year-old woman with only a history of arrhythmia. The tumor shows a lobulated mass with cystic space and coarse calcifications. The pathological findings of the tumor were found to be benign by CNB. Dynamic MRI scan showed a fast washout pattern with a decreased ADC value. Both patients underwent excisional biopsy to confirm the diagnosis, and the pathological diagnosis was benign AME in both cases.ConclusionsThe AME of the breast has little specific imaging information, so it can be difficult to diagnose based on pathological findings of biopsy specimen. In our case, the ADC values were exceptionally low, contrary to previous reports. It is essential to carefully diagnose AME, considering the discrepancies in imaging findings observed in this case.

Epithelial to mesenchymal transition (EMT) in metaplastic breast cancer and phyllodes breast tumors.

Epithelial-mesenchymal transition (EMT), a transdifferentiation program whereby epithelial cells acquire mesenchymal phenotype, is essential during embryonic development. EMT has also been implicated in cancer progression by conferring migratory and metastatic potential, as well as cell plasticity and stem cell like traits, to cancer cells. Metaplastic breast carcinoma (MBC) is a rare aggressive type of breast cancer characterized by the presence of heterologous elements, typically by the existence of epithelial and mesenchymal components. Phyllodes tumors (PTs) are uncommon fibroepithelial neoplasms consisting of epithelial and mesenchymal elements. Although various hypotheses have been proposed on the pathogenesis of these biphasic tumors, there is growing evidence supporting the theory that PTs and MBC could both correlate with cancer related EMT. This review summarizes the existing literature on the emerging role of EMT in the pathogenesis of MBC and PTs. Both malignant PTs and MBC are characterized by poor prognosis. Therefore, several anti-EMT targeting strategies such as blocking upstream signaling pathways, targeting the molecular drivers of EMT and targeting mesenchymal cells and the extracellular matrix, could potentially represent a promising therapeutic approach for patients suffering from these aggressive neoplasms.

Inferior vena cava hemangioma resected using a novel Toumai robotic surgical platform

This study aims to investigate the significance of using the Toumai robotic platform for the resection of inferior vena cava (IVC) hemangiomas. Our objective is to provide information on the potential benefits of this innovative approach in managing these uncommon vascular tumors and to contribute to the growing body of knowledge in the field of surgical oncology and vascular surgery. A 37-year-old female patient with an incidental finding of a right retroperitoneal mass underwent contrast-enhanced magnetic resonance imaging, which confirmed the diagnosis of an IVC hemangioma. Due to the rarity and complexity of this vascular tumor, the medical team opted for a novel approach using the Toumai robotic surgical platform (Shanghai MicroPort MedBot Group Co, Ltd). Under general anesthesia, the patient was placed in the left lateral decubitus position, and the robotic arms were controlled remotely through the Toumai platform. A transperitoneal approach was adopted, and the surgeon meticulously resected the tumor while preserving the integrity of the IVC. The use of the Toumai robotic platform facilitated precise tumor resection, minimizing the risk of damage to surrounding structures. The minimally invasive nature of the robotic surgery contributed to a reduced incidence of postoperative complications and accelerated patient recovery. Furthermore, the remote fifth-generation mobile network surgical capabilities of the Toumai platform allow for expert care to be provided to patients despite geographic barriers. The robotic-assisted surgical approach using the Toumai platform demonstrates its potential benefits in managing rare and complex vascular tumors such as IVC hemangiomas. Robotic technology has the potential to revolutionize the field of surgical oncology and vascular surgery, leading to improved patient outcomes and healthcare delivery. However, more extensive clinical studies and larger case series are needed to validate the long-term safety and efficacy of this innovative surgical approach. Continued research and collaboration between clinicians and robotic technology experts are essential to fully realize the potential of robotic-assisted surgery for the benefit of patients with rare and challenging medical conditions.

Simultaneous laparoscopic liver metastasectomy and intersphincteric resection for neuroendocrine tumor of the rectum by natural orifice specimen extraction surgery.

Neuroendocrine tumors (NET) are relatively uncommon rectal neoplasms, and the liver is the most common site of distant metastasis. Simultaneous liver and colorectal resections by minimally invasive surgery and natural orifice specimen extraction are gaining popularity, reducing morbidity. We describe a case of rectal NET with liver metastasis operated simultaneously by laparoscopy with both specimens extracted via the anal canal. Transanal or transvaginal natural orifice specimen extraction surgery for suitable cases is underutilized and only isolated case reports for simultaneous resections exist.

Ovarian myeloid sarcoma with concurrent acute myeloid leukemia- A case report

Myeloid sarcoma is a rare extramedullary tumor of immature myeloid cells that can be composed of cells showing granulocytic or monocytic differentiation. It is frequently detected as masses in subcutaneous soft tissue, bone, skin, GIT, reproductive organs, CNS, heart, lungs, kidney and breast. We report a pediatric case of myeloid sarcoma presenting with bilateral ovarian masses.A 12 years old female presented with complaints of fever, lethargy, decreased appetite and easy fatiguability. Patient further developed swelling and pain in large joints along with slurring of speech and difficulty in swallowing. Examination revealed polyserositis along with hepatosplenomegaly. ANA IFA profile was positive. CECT abdomen showed heterogeneous lesions in bilateral adnexae along with a few enlarged matted lymph nodes in left para-aortic region (?Neoplastic/ ?Histiocytosis/ ?EM hematopoiesis). GBP was suggestive of leucoerythroblastic reaction. BM study with flowcytometry was suggestive of Acute myeloid leukemia with monocytic differentiation. Biopsy from both adnexae showed features consistent with poorly differentiated malignancy, favour haematolymphoid neoplasm. Immunophenotyping by IHC showed the cells to be positive for CD45 (dim), MPO &amp; CD117, thus establishing diagnosis of Myeloid sarcoma, both ovaries.Myeloid sarcoma is uncommon ovarian neoplasm and the clinical presentation may be with or without acute leukemia / MPN. Immunohistochemistry and ancillary studies are necessary to recognize this entity.