Rare Tumor Research Articles

Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma

Pheochromocytomas (PCCs) and paragangliomas (PGLs), denoted PPGLs, are rare neuroendocrine tumours and are highly heterogeneous. The phenotype–genotype correlation is poor; therefore, additional studies are needed to understand their pathogenesis. We describe the clinical characteristics of 63 patients with PPGLs and perform a genetic study. Genetic screening was performed via a targeted gene panel, and clinical variables were compared among patients with a positive molecular diagnosis and negative ones in both PCC and PGL cohorts. The mean age of patients with PCC was 50.0, and the mean age of those with PGL was 54.0. Disease-causing germline variants were identified in 16 individuals (25.4%), twelve and five patients with PCC and PGL, respectively. Genetically positive patients were younger at diagnosis in both cohorts. Variants in genes associated with either isolated PPGLs or syndromic forms of the disease were detected in a cohort of PPGLs. We have identified novel variants in known genes and set the importance of genetic screening to every patient with PPGLs, with a special focus on the young. A longer follow up of patients with variants in genes associated with syndromic forms is of clinical value.

024. Case Report: Giant Cell Tumor Intravertebra

Background: Giant cell tumor is a rare neoplasm that most frequently occurs at the end of long bones and accounts for approximately 5% of all primary bone tumors in adults. The prevalence of spinal giant cell tumors is estimated at 2%–15% of all spinal giant cell tumors. However, Giant cell tumor is a rare finding in the spine, especially in the pediatric population. Case: A 6-year-old male patient presented with back pain that had spread to both legs for 1.5 years and had worsened in the past 4 months. The pain is intermittent. The patient also felt tingling in the waist and legs, which then turned into a thickening feeling from the waist to the toes since the last 6 months. The patient also complained of weakness in both legs since 1 year ago. Currently the patient is only on bed rest. The patient cannot walk but can still stand with assistance. Defecation and urination remain within normal limits. History of previous trauma (-) Prolonged cough (-), bed wetting (-), headache (-), seizures (-), decreased consciousness (-), progressive weight loss (-), nausea (-) vomiting (-), history of contact with TB sufferers (-). Conclusion: Complete resection of tumor by laminectomy was performed successfully followed by spinal fusion with a pedicle screw. The screws were placed correctly at all four levels of Vertebrae. The decision was made to give stability for spine and it was scheduled to remove the pedicle screw one year follow-up after surgery. Histopathology results showed characteristic findings of giant cell tumor.

Cardiac Computed Tomography as a Method of Diagnosing the Type of Cardiac Tumor—Example of Interatrial Septal Lipoma Filling the Right Atrium

Cardiac tumors present substantial diagnostic challenges due to their diverse manifestations and similarity to other cardiac pathologies. Cardiac lipomas are rare tumors that originate from adipose cells and can develop in any location within the heart. Cardiac lipomas account for 2.4% of all primary cardiac tumors. Most lipomas are located within the cardiac chambers. Among the lipomas occurring within the cardiac chambers, the most common localization is the right atrium. Currently, the gold standard for imaging cardiac tumors is cardiac magnetic resonance (CMR). Despite the significant advantages of CMR, cardiac computed tomography angiography (CCTA) continues to be a valuable technique when CMR is either unavailable or contraindicated. In some cardiac tumors, CCTA can identify the type of tumor. A classic example of this type is a lipoma. We present images of a large interatrial septal lipoma filling the right atrium diagnosed by CCTA in a 57-year-old female Caucasian patient. In summary, CCTA effectively identifies lipomas’ characteristic features and provides crucial information for appropriate management.

Nodule de Soeur Marie Josèphe sur cancer ovarien: à propos d’un cas

Sister Mary Joseph’s tumor or nodule is a cutaneous ombilical metastasis of a visceral cancer. It is a rare tumor that constitutes the calling symptom of the cancer disease. Its incidence is from 1 to 3% of all abdominal and pelvic neoplasia. They bring up etiologic diagnosis issue, since the finding of the primitive cancer could be difficult et prognosis. We are reporting a case observed in the Hepato-gastro-enterology Unit of the University Hospital Center of Sino-Central African Friendship in Bangui. This observation will help us show the difficulties of early diagnosis and therapeutic care in a limited resources context.

Peripheral Ameloblastoma: A Case Report and Review of Literature

Peripheral ameloblastoma (PA) is a rare benign tumor that can occur mostly in the mandibular gingiva of the premolar area, originating from the residual odontogenic epithelium. The patient is usually asymptomatic and the lesion can be an occasional finding during routine intraoral examination. Due to the lack of clinical and radiographic pathognomonic features, the diagnosis is based on histopathological analysis, associated with 3D computed tomography (CT) imaging. Here, we report the case of a middle-aged man showing an asymptomatic, sessile, normochromic papillomatous mass of the lingual alveolar mucosa, in correspondence of tooth 4.4, which was histologically diagnosed as peripheral ameloblastoma. After the complete excision of the lesion, there were no recurrence and no symptoms during the 3-year follow-up. The treatment of choice for PA is a conservative surgical excision, which usually results in a good prognosis, together with a long-term follow-up, necessary to intercept possible recurrence or, more rarely, malignant transformation.

Olfactory neuroblastoma

Originating from the olfactory neuroepithelium, olfactory neuroblastoma is a rare malignant tumor of the nasal cavity that typically affects adults between the ages of 35 and 70. Clinical presentation predominantly consists of nonspecific symptoms such as nasal obstruction, nasal drainage or epistaxis, thus illustrating the need for a thorough diagnostic workup. In addition to a complete head and neck examination, rigid nasal endoscopy, biopsy and imaging are necessary to establish a definitive diagnosis as well as plan for treatment. Computed tomography (CT) and magnetic resonance imaging (MRI) are the primary imaging modalities utilized to assess for bony invasion and soft tissue involvement, respectively. Hyams grading system provides a histologic assessment of disease severity while various staging systems correlate severity of disease to anatomic location/progression. Treatment relies on both surgical intervention and radiation. In addition, ongoing research trials are investigating therapeutic targets. Given the risk of recurrence, extended post-treatment surveillance remains necessary.

Organ-preserving embolization of a giant splenic hemangioma in an adult

Splenic hemangioma is a rare benign tumor, often found incidentally. Large hemangiomas bear a high risk of spontaneous rupture, an acute condition often life-threatening that requires immediate intervention. The spleen’s vital role in immunity and blood filtration mandates organ-preserving management of conditions such as hypersplenism or large lesions such as hemangiomas. A 51-year-old patient was referred to our department for abdominal pain due to a giant spleen hemangioma (6,6 × 6,3 × 5,6) cm in size. The patient was treated with hemangioma embolization through the splenic artery branches that fed the lesion, without any complications. Two years post-embolization the patient mentioned no symptoms and the hemangioma was measured (3 × 2) cm.Background The patient was referred to our department due to the large size of the lesion and the patient’s preference to avoid surgery and maintain the spleen. Our case report aims to underline (a) the safety and feasibility of the protocol among interventional radiologists, surgeons, and patients, (b) the benefit of relieving symptoms without losing a vital organ, and (c) the lower complication rate and hospital days compared with surgery. There are few reported cases of embolization of large spleen hemangioma. While Choi et al. (BMC Pediatr. 2018 12;18(1):354) report a similar case in a child. This case report describes the procedure in a stable adult and provides a 2-year follow-up.Graphical

Arthroscopic Management of Juxta-Articular Proximal Tibial Chondroblastoma: A Case Report and Literature Review.

Chondroblastoma is a rare bone tumor that originates from the epiphysis, constitutes around 1% of all primary bone tumors and is recognized for its tendency to exhibit local invasiveness, as well as the possibility of metastasis and recurrence in nearby areas. Currently, the main surgical treatment for chondroblastoma is open surgery, involving excision of the lesion. There are relatively few reports on arthroscopic surgery for the treatment of chondroblastoma. However, open surgical curettage is associated with operation-related trauma and potential for damage to the osteoepiphysis resulting in growth disturbances. This case study presents the application of an arthroscopic technique in a 14-year-old male patient with chondroblastoma affecting the proximal tibia and tibial eminence. The procedure involved thorough removal of the lesion using direct visualization with the management of the cavity utilizing a substitute for autologous bone graft. After 1 year of follow-up, the patient remains free from symptoms, exhibits normal knee functionality, and radiographic analysis reveals a good autologous bone graft fusion without any signs of recurrence. Based on the existing cases of arthroscopic treatment for chondroblastoma and the report of this case, arthroscopic treatment for chondroblastoma can be considered as a specific treatment option for certain patients. In some cases, this technique could be an effective alternative to open surgery.

Enteropathy-associated T-cell lymphoma: from indolent to aggressive.

Abstract Enteropathy-associated T-cell lymphoma (EATL) is a rare neoplasm that accounts for <5% of peripheral T-cell lymphomas. EATL is derived from malignant transformation of intestinal intraepithelial lymphocytes and is the most common neoplastic complication of celiac disease. It is rare in patients diagnosed at a young age, although in long-standing coeliac disease it may be the debut of the disease. Its diagnosis involves imaging techniques, biopsies and immunohistochemistry, the main tool needed being a high diagnostic suspicion. The prognosis is poor and there is currently no consensus on the best therapeutic approach.

Current Trends in the Surgical Management of Yolk Sac Tumors

Mediastinal yolk sac tumors (YST) constitute a highly malignant subtype of primary non-seminomatous germ cell tumors, which are often locally advanced and unresectable at diagnosis. Due to their rarity and aggressiveness, there is not yet a standard optimal treatment approach. A widely employed multimodal strategy involves neoadjuvant cisplatin-based combination chemotherapy followed by consolidation surgery. Tumor infiltration into the lungs and adjacent cardiovascular structures is common, such that surgical intervention typically requires extensive resections, performed either by sternotomy or thoracotomy. For this review, we extensively searched the PubMed and Embase medical databases, identifying articles describing surgical treatment of mediastinal yolk sac tumors. The current literature provides limited details regarding the utilized surgical procedures, leaving clinicians without comprehensive guidance about the demanding nature of these resections. Here, we present a narrative description of the range of current surgical procedures. By highlighting these techniques, we provide a comprehensive overview of the current surgical landscape, thereby helping clinicians understand the potential complexities and considerations involved in managing these rare and aggressive tumors.

DLK1 Is Associated with Stemness Phenotype in Medullary Thyroid Carcinoma Cell Lines

Medullary thyroid carcinoma (MTC) is a rare and aggressive tumor, often requiring systemic treatment in advanced or metastatic stages, where drug resistance presents a significant challenge. Given the role of cancer stem cells (CSCs) in cancer recurrence and drug resistance, we aimed to identify CSC subpopulations within two MTC cell lines harboring pathogenic variants in the two most common MEN2-associated codons. We analyzed 15 stemness-associated markers, along with well-established thyroid stem cell markers (CD133, CD44, and ALDH1), a novel candidate (DLK1), and multidrug resistance proteins (MRP1 and MRP3). The ability to efflux the fluorescent dye Hoechst 3342 and form spheroids, representing CSC behavior, was also assessed. MZ-CRC-1 cells (p.M918T) displayed higher expressions of canonical markers, DLK1, and MRP proteins than TT cells (p.C634W). MZ-CRC-1 cells also formed more spheroids and showed less dye accumulation (p < 0.0001). Finally, we observed that DLK1+ cells (those expressing DLK1) in both cell lines exhibited significantly higher levels of stemness markers compared to DLK1− cells (those lacking DLK1 expression). These findings underscore DLK1’s role in enhancing the stemness phenotype, providing valuable insights into MTC progression and resistance and suggesting potential therapeutic implications.

A Rare Case of Pancreatic Metastasis of Synovial Sarcoma

Synovial sarcoma is a rare mesenchymal tumor of soft tissue and has high metastatic potential. The most common sites of metastases are the lungs, lymph nodes and bones. The pancreatic location of a synovial sarcoma is very rare. Histological and immunohistochemical examinations are essential to confirm the diagnosis. We report the case of a 57-year-old patient treated for (SS) of pulmonary localization 2 years ago and who currently presents with pancreatic localization.

Comatogenic Hypoglycemia Secondary to Paraneoplastic IGF2 Secretion by a Malignant Solitary Pancreatic Fibrous Tumor

Solitary fibrous tumors are rare mesenchymal tumors, most often developing in the pleura, but sometimes appearing in soft tissue or parenchymal orga1853-1856ns, where their diagnosis is often problematic. Exceptionally they have been described in the pancreas. We report the case of a malignant solitary fibrous tumor of the pancreas occurring in a 58-year-old woman who consulted for comatogenic hypoglycemia associated with abdominal pain. Surgical resection of the tumor was performed, but the patient died of postoperative complications.

Follicular Dendritic Cell Sarcoma of the Thyroid Gland: A Rare Case Report

Abstract Introduction Follicular dendritic cell sarcoma (FDCS) is a rare neoplasm of antigen-presenting cells within the reticuloendothelial system primarily originating in lymph nodes, but in almost one-third of the patients, extranodal sites are involved including oral cavity, tonsil, gastrointestinal tract, soft tissue, and breast. The thyroid gland is an extremely rare location for FDCS and very few cases are reported in the literature. Case Report Here, we present a 39-year-old man who presented with a swelling in the neck for 3 months and difficulty in breathing for 15 days. Following left hemi-thyroidectomy, histopathologically and immunohistologically, he was diagnosed as FDCS of thyroid arising in Castleman's disease. He received adjuvant radiation treatment. The patient had favorable prognosis with no evidence of disease for 6 years after treatment till date. Conclusion The aim of this report was to present the rare site of FDCS arising in the thyroid gland, the vital role of immunohistochemistry in diagnosis, and effectiveness of multimodality treatment for favorable prognosis.

Primary osteosarcoma of the breast during lactation: a case report and literature review

Primary osteosarcoma of the breast (POB) is an aggressive and exceedingly rare tumor, and cases with onset during lactation are extremely rare. The exact mechanism of POB development remains unclear. They may originate from totipotent mesenchymal cells in the breast stroma or may be the result of neoplastic transformation of prior breast lesions. Here, we present the case of a 40-year-old Chinese woman who was found with a palpable tumor measuring approximately 3 cm in diameter in her right breast while breastfeeding 4 months post-partum. The lactating woman was misdiagnosed with lactational mastitis during her initial visit to a community hospital. However, due to negative bacterial cultures and ineffective anti-infective treatment, later on the patient was taken to a more advanced hospital where a tissue biopsy was taken. The superior hospital considered that it might be a malignant tumor and performed local excision of the breast mass, leading to a final pathological diagnosis of POB. This is the first reported case of primary osteosarcoma during breastfeeding. We hope that this case report will improve readers’ understanding of the diagnosis and differential diagnosis of POB, especially for patients with atypical clinical symptoms and imaging findings, which should not be taken lightly.

Revealing the structural microenvironment of high metastatic risk uveal melanomas following decellularisation

Uveal melanoma (UM) is a rare aggressive intraocular tumour that spreads most commonly to the liver in tumours with loss of one copy of chromosome 3 (HR-M3); current treatments for metastatic disease remain largely ineffective. Pre-clinical research is increasingly using three-dimensional models that better recapitulate the tumour microenvironment (TME). One aspect of the TME is the acellular extracellular matrix (ECM) that influences cell proliferation, migration and response to therapy. Although commercial matrices are used in culture, the composition and biochemical properties may not be representative of the tumour ECM in vivo. This study identifies UM metastatic risk specific ECM proteins by developing methodology for decellularisation of low- and high- metastatic risk tissue samples (LR-D3 vs. HR-M3). Proteomic analysis revealed a matrisome signature of 34 core ECM and ECM-associated proteins upregulated in HR-M3 UM. Combining additional UM secretome and whole cell iTRAQ proteomic datasets revealed enriched GO and KEGG pathways including ‘regulating ECM binding’ and ‘PI3K/Akt signalling’. Structural analyses of decellularised matrices revealed microarchitecture of differing fibre density and expression differences in collagen 4, collagen 6A1 and nidogen 1, between metastatic risk groups. This approach is a powerful tool for the generation of ECM matrices relevant to high metastatic risk UM.

Management of large Trigeminal Schwannoma: long-term oncologic and functional outcome from a multicentric retrospective cohort.

Trigeminal schwannoma (TS), though a rare and benign tumor, becomes a significant surgical challenge due to its intricate location. This study aims to detail the long-term functional outcomes and tumor control post-surgical resection. We analyzed a multicentric retrospective cohort of 39 patients operated on for a TS in five tertiary centers between January 1993 and July 2022. Six TS (15%) were in the middle fossa (type M), two (5%) in the posterior fossa (type P), and two (5%) were extracranial (type E). Twenty-nine (75%) were Dumbbell shape: Eighteen (47%) were MP type, seven (18%) were MPE type, and four (10%) were ME type. Fifth nerve symptoms were the foremost preoperative complaint: hypesthesia (51%), trigeminal neuralgia (36%), and paresthesia (30%). We report a favorable evolution course for 61% of preexisting deficits (half of patients with preoperative paresthesia and neuralgia improved while only 5% of preoperative hypesthesia improved). Postoperative hypesthesia was the most frequent de novo deficit 14 (74%) and resolved in solely half the cases. Various approaches were used according to tumor type. Gross total resection (GTR), Subtotal resection (STR), and partial resection (PR) were achieved in respectively 33% (N = 13), 10% (N = 4), and 56% (N = 22) of patients. The mean clinical and radiological FU was 63months (12 - 283months). GTR led to no sign of recurrence (mean FU: 60months - range: 12-283months). For STR or PR (67%): 23 (88%) were assigned to a Wait-&-rescan policy (WS group) which offered stability in 70% (N = 16). Three cases (8%) underwent a complementary GKS (GammaKnife) on the residual lesion (GK group) without tumor change. For large TS, the completeness of resection must consider the potential functional burden of surgery. With giant infiltrating lesions, a strategy of planned subtotal resection, complemented by radiosurgery, either complementary or uppon regrowth, may provide similar oncological outcomes.

Thyroid Malignancies With Thymic Differentiation: Outcomes of Rare SETTLE and CASTLE Tumors.

Spindle epithelial tumors with thymus-like differentiation (SETTLE) and carcinomas showing thymus-like differentiation (CASTLE) are rare intrathyroid tumors. This retrospective cohort study included patients diagnosed with SETTLE, CASTLE, and papillary thyroid carcinoma (PTC) from 2004 to 2020 within the National Cancer Database (NCDB). Demographic, tumor, and treatment characteristics were compared. Overall survival (OS) was analyzed using the Kaplan-Meier method and Cox regression models. This study identified 19 patients with CASTLE, 11 with SETTLE, and 483 474 with PTC. CASTLE and SETTLE patients had larger tumors, lymphovascular invasion, and positive surgical margins. They were rarely treated with radioactive iodine treatment but frequently received external beam radiation and chemotherapy. Five-year OS was significantly lower for CASTLE and SETTLE compared to PTC. SETTLE was associated with an increased risk of death. SETTLE and CASTLE are rare intrathyroid tumors with worse survival compared to PTC, often managed with radiation, chemotherapy, and surgery.

082. Ectopic Meningothelial Meningioma of the Soft Palate – A Rare Case Report

Background: Ectopic meningiomas are rare neoplasms that occur entirely outside the intracranial and account for only 1–2% of all meningiomas. These tumors have been reported at various sites, however they are predominantly observed in the head and neck region. This study aims to document and analyze a rare case of ectopic meningothelial meningioma of the soft palate. Case: A 52-year-old woman who presented with a complaint of a lump in the roof of her mouth that had appeared five months prior. Examination of the local status through bimanual palpation revealed a mass in the soft palate extending to the oropharynx, displacing both the uvula and the anterior and posterior pillars. On imaging showed a solid, heterogeneous mass with central necrosis located in the right soft palate, extending into the oropharynx. The patient underwent a wide excision, which included ligation of the external carotid artery. Histopathology exams revealed an ectopic meningothelial meningioma. Conclusion: The diagnosis of ectopic meningioma may difficult due the occurrence in uncommon sites. The prognosis for tumours of the palate varies widely, depending on specific factors such as histology, tumor’s grade, margin status, cervical metastasis, and recurrence.

Mohs Micrographic Surgery: A Brief Overview

AbstractMohs micrographic surgery (MMS) is a tissue-sparing skin cancer resection technique that involves 100% margin analysis. This procedure is performed in the outpatient setting under local anesthesia by dermatologic surgeons who act as both the surgeon and the pathologist. The technique allows for prompt reconstruction immediately after cancer clearance and offers the highest cure rate for many skin malignancies, including basal and squamous cell carcinoma, as well as more rare tumors. Mohs surgery effectively ensures cancer clearance while minimizing defect size and optimizing cosmetic and functional outcomes for patients. Herein we will discuss the evolution, procedure, and indications of MMS.