Rare Tumor Research Articles

Intranodal Hemangioma: Case Report and Systematic Review

ABSTRACT Background: Intranodal hemangiomas are rare benign vascular tumors of the lymph nodes, often misdiagnosed as malignant lymphadenopathies due to their clinical and radiological features. This case report and systematic review aim to elucidate the epidemiology, clinical profile, and therapeutic interventions for intranodal hemangioma, enhancing diagnostic accuracy and management. Methods: A systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Searches were conducted in PubMed, Scopus, Web of Science, and Google Scholar up to March 15, 2024, using keywords like “intranodal hemangioma,” “primary intranodal hemangioma,” “nodal hemangioma,” “vascular tumor,” and “lymph node hemangioma.” Inclusion criteria included studies on clinical presentation, diagnostic strategies, and therapeutic interventions for intranodal hemangioma in patients of all ages. Excluded were reviews, opinion pieces, non-English studies, cases of hemangioendothelioma, sclerosing hemangioma, and animal studies. Key aspects analyzed included demographics, clinical presentation, management strategies, and histopathological findings. Results: Our case involves a 3-year-old female with a submandibular mass, initially diagnosed with hemangioma. After no response to beta-blocker therapy and conflicting imaging results, surgical excision was performed. Histopathology confirmed intranodal hemangioma. From 233 records, 19 publications (36 patients, including our case) met the inclusion criteria. The review shows common clinical presentations as painless, slowly enlarging lymph nodes, primarily in the cervical and axillary regions. Diagnostic challenges often require imaging and biopsy to differentiate from malignancies. Conclusion: Recognizing intranodal hemangiomas, particularly in childhood, is crucial to prevent misdiagnosis and inappropriate treatment. The rarity of these tumors in childhood and their clinical presentation similar to malignancies in older patients make diagnosis challenging without widespread awareness. Surgical excision remains the mainstay of both diagnosis and treatment, often leading to favorable outcomes.

Potential treatment approaches for malignant peritoneal mesothelioma: in vivo and in vitro experimental study of natural killer cell immunotherapy.

Malignant peritoneal mesothelioma (MPM) is a rare primary malignant tumor with an extremely poor prognosis that currently lacks effective treatment options. This study investigated the in vitro and in vivo efficacy of natural killer (NK) cells for treatment of MPM. An in vitro study was conducted to assess the cytotoxicity of NK cells from umbilical cord blood to MPM cells with the use of a high-content imaging analysis system, the Cell Counting Kit-8 assay, and Wright-Giemsa staining. The level of NK cell effector molecule expression was detected by flow cytometry and enzyme-linked immunosorbent assays. The ability of NK cells to kill MPM cells was determined based on live cell imaging, transmission electron microscopy, and scanning electron microscopy. An in vivo study was conducted to assess the efficacy and safety of NK cell therapy based on the experimental peritoneal cancer index, small animal magnetic resonance imaging, and conventional histopathologic, cytologic, and hematologic studies. NK cells effectively killed MPM cells through the release of effector molecules (granzyme B, perforin, interferon-γ, and tumor necrosis factor-α) in a dose- and density-dependent manner. The NK cell killing process potentially involved four dynamic steps: chemotaxis; hitting; adhesion; and penetration. NK cells significantly reduced the tumor burden, diminished ascites production, and extended survival with no significant hematologic toxicity or organ damage in NOG mice. NK cell immunotherapy inhibited proliferation of MPM cells in vitro and in vivo with a good safety profile.

Primary orbital mesenchymal chondrosarcoma: clinicopathological characteristics and prognostic prediction

PurposeThis study aimed to analyze the clinicopathological characteristics of a rare malignant tumour, primary orbital mesenchymal chondrosarcoma (MCS), and identify the risk factors influencing its prognosis. MethodsA total of 15 patients with histologically confirmed primary orbital MCS were enrolled between April 2013 and October 2022. The relationships between clinicopathological features and outcomes, including recurrence and survival were analyzed. ResultsDuring the follow-up period, 9 patients (60%) experienced disease relapse, and 7 patients (46.7%) succumbed to the disease. Immunohistochemical analysis showed positive rates for SMA, CD-99, S-100, vimentin, and Bcl-2 at 60%, 60%, 53.3%, 100%, and 93.3%, respectively. The Ki67 index was positively associated with the recurrence and mortality rates. ConclusionOur study suggested that the Ki67 index could be a vital prognostic factor for MCS. Further follow-up studies are required to assess the efficacy of chemotherapy and radiotherapy in improving patient outcomes.

DTI analysis of the peritumoral zone of diffuse low-grade gliomas in progressing patients

DLGGs are rare brain tumors transforming to higher grade even with surgery, chemotherapy and radiotherapy. Their preferential infiltration of WM tracts, beyond tumor boundaries on FLAIR, make difficult to plan focal treatment such as surgery, radiotherapy and monitor response to chemotherapy. DTI might reflect this infiltration of WM tracts. The aim of our study is to assess how DTI signal in the peritumoral zone might be modified before FLAIR tumor progression appears at one-year follow-up. The study retrospectively enrolled five patients who met inclusion criteria: DTI with 25 directions, T1 and FLAIR at initial imaging; FLAIR at one-year follow-up. Patients with surgery, radiotherapy and chemotherapy completed less than 2 years before initial imaging were excluded. FLAIR tumor progression, named progression mask, was assessed by subtracting tumor masks between initial imaging and one-year follow-up. Initial DTI signal was analyzed within this progression mask and compared with the healthy contralateral side. Tumor progression was confirmed for the five patients at one year. All patients showed pre-existing DTI signal abnormalities within the progression mask. Mean FA (p = 0.03) was lower in the progression mask, whereas MD, AD and RD mean (p = 0.03) was higher in the progression mask, compared to healthy side. This study shows pre-existing DTI signal abnormalities in regions with tumor progression at one year. Such abnormalities could correspond to a tumor infiltration not yet visible on FLAIR. This might be helpful to predict tumor progression and allow to adapt the therapeutic strategy.

Rare tumor list provide vast opportunities for novel drug development in China

Rare tumor list provide vast opportunities for novel drug development in China

Primary intracranial malignant melanomas: A case series with literature review.

There is a high chance of misdiagnosis and limited knowledge regarding therapeutic strategies owing to the rarity of primary intracranial malignant melanoma (PIMM). The objective of the present study was to evaluate the clinical features, treatment modalities, and outcomes of patients with histologically proven PIMM. Data of 15 patients with PIMM admitted to the Chinese People's Liberation Army General Hospital in a 14-year period between January 2005 and January 2019 were collected. Clinical presentations, pathology, surgical strategies, adjuvant treatment, and prognosis were retrospectively analyzed. CT showed iso- or high-density lesions in 12 cases (80%). MRI revealed short T1 and slightly short T2 in 14 cases (93.3%).The tumors showed mild or no enhancement on enhanced MRI. The patients were eventually diagnosed with PIMM through pathological examination. The treatment modalities included radical resection followed by conventional radiotherapy (RT, n = 12) and subtotal resection followed by stereotactic radiosurgery (n = 3). All 15 patients had either recurrence or metastasis at an average of 14.7 months (range, 6-23 months) after surgery. In total, 14 patients (93.3%) succumbed to disease, with a mean overall survival of 22 months (range, 6-36 months). The median survival time was 23 months. The overall survival rates at 1, 2, and 3 years were 80, 47, and 13%, respectively. Radical resection with RT was associated with longer overall survival (log-rank, P < .05) than subtotal resection followed by stereotactic radiosurgery. PIMM is an extremely rare tumor with a poor prognosis. Radical resection with RT may result in a longer overall survival rate. Targeted immunotherapy may be a promising treatment option for PIMM.

Efficacy and safety of surufatinib in the treatment of patients with neuroendocrine tumor: a real-world study in Chinese population

BackgroundNeuroendocrine tumors (NETs) are rare neoplasms that originate from peptidergic neurons and neuroendocrine cells. Due to their increasing incidence, effective treatment strategies are required. Surufatinib, a novel small-molecule inhibitor with antiangiogenic and immunomodulatory effects, has shown promise in clinical trials for advanced NETs. However, the efficacy and safety of surufatinib are influenced by multiple factors, and there is currently a lack of sufficient real-world studies to explore these potential influencing factors.MethodsWe conducted a retrospective study on 133 patients with NETs who were treated with surufatinib at Sun Yat-sen University Cancer Center. Patients were histologically confirmed to have primary NETs. Statistical analyses, including Cox regression models and Kaplan-Meier curves, were conducted to assess the impact of the primary tumor site on progression-free survival (PFS) and overall survival (OS).ResultsPatients with gastroenteropancreatic NETs (GEP-NETs) exhibited significantly longer PFS and OS compared to extraGEP-NETs patients. Subgroup analyses also revealed variations in survival outcomes among patients with liver metastases depending on the primary tumor site. Adverse events (AEs), including proteinuria and increased bilirubin, were more common in GEP-NETs patients. These findings emphasize the importance of considering primary tumor site in treatment decisions for NETs.ConclusionsPrimary tumor site is a critical factor influencing the efficacy of surufatinib in NETs. Clinicians should consider this factor when determining treatment strategies.

Primary Small Cell Carcinoma of Left Maxillary Sinus: A Case Report of Rare Tumor on Rare Location

Introduction: Primary extrapulmonary small cell carcinoma (EPSCC) is a rare and aggressive tumor with diverse clinical manifestations. In the realm of head and neck pathology, EPSCC most commonly presents in the larynx or oral cavity. Sinonasal small cell neuroendocrine carcinoma represents a particularly infrequent and aggressive neoplasm affecting the nasal cavity and paranasal sinuses. Case Presentation: Here in, we are presenting a case of a 40-year-old nonsmoking male with left maxillary sinus EPSCC, demonstrating extensive local invasion and regional lymphadenopathy. The patient presented with nasal obstruction, ocular swelling, visual loss, and multiple neck swellings. Diagnosis was challenging, requiring a multidisciplinary approach and histopathological confirmation. Immunohistochemistry revealed positive cytokeratin AE1/AE3 and synaptophysin markers validating the diagnosis of small cell carcinoma. Conclusion: This case underscores the diagnostic complexities and highlights the importance of swift intervention and a multidisciplinary treatment approach for optimizing patient outcomes in rare and aggressive tumors like EPSCC. Early detection and prompt management are crucial in resource-limited settings to mitigate morbidity and mortality.

Mandibular Condylar Head Regeneration Owing to Remodeling of the Costochondral Graft After Condylectomy for Odontogenic Myxoma.

Odontogenic myxoma of the mandibular condyle is a rare tumor that requires complete surgical resection because of the tendency for recurrence. The right mandibular condyle was resected to remove the myxoma. The author performed immediate condylar reconstruction using a costochondral graft (CCG), and stable temporomandibular joint (TMJ) function and occlusion were achieved. During follow-up, the grafted CCG healed well, and a favorable bony union with the mandibular ramus was observed. Furthermore, unexpected bony remodeling was observed in the CCG; growth of the cartilaginous part resulted in the formation of a structure similar to the condylar head, and the body of the rib bone thickened similar to the mandibular subcondylar region. In conclusion, the author reported the successful removal of an odontogenic myxoma from the right mandibular condyle via condylectomy, condylar reconstruction using a CCG, and condylar head regeneration owing to CCG remodeling.

Superficial Papular Neuroma: Two Cases of a Distinctive Dermal Neoplasm.

Superficial papular neuroma is a rare cutaneous spindle cell lesion, with only 5 cases reported in 2 studies. We document 2 additional cases in a 45-year-old man and a 43-year-old woman (the first case identified in a woman). Clinically, superficial papular neuromas appear as a single, non-specific papule on the head, neck, or back. Histologically, these lesions are within the papillary and superficial reticular dermis, with nerve-like structures composed of bland spindle-shaped cells intersecting normal tissue with mild reactive acanthosis. The cells are SOX10 positive with neurofilament protein staining multiple axons within. The nerve-like structures in this study were occasionally surrounded by a thin rim of CD34 positivity, with no epithelial membrane antigen staining, similar to normal sensory neurons. Superficial papular neuroma are rare benign neoplasms with no reports of recurrence, even when incompletely excised.

Effects of Neoadjuvant Denosumab on Radiological and Histological Responses in Patients Undergoing En Bloc Resection for Giant Cell Tumor of Bone: A Systematic Review

Background: Giant cell tumor of bone (GCTB) is a rare primary bone tumor. The standard treatment is en bloc resection, which can be challenging due to tumor size or location. Denosumab, a monoclonal antibody, has emerged as a promising neoadjuvant therapy for GCTB, potentially facilitating surgical resection. However, its optimal use remains unclear, with debate surrounding its impact on local recurrence. This systematic review aims to synthesize evidence on the histological and radiological changes induced by neoadjuvant denosumab and its impact on surgical outcomes. Methods: This review followed PRISMA guidelines. The medical term "denosumab", "neoadjuvant", "GCTB", "radiological", and "histological" were used in PubMed (423 articles) and Google Scholar (18,100 articles), totaling 18,523 articles to discover studies of the effect of neoadjuvant denosumab on radiological and histological response up to July 2023. Six remaining studies were reviewed and screened for inclusion criteria based on their relevance to the study subject and clinical outcomes. Results: Based on six studies in this review, five showed histological response by decreasing the multinucleated giant cells and osteoclasts after neoadjuvant DT. Six studies showed increased significant bone reconstitution as a radiological response in the GCTB locale, replaced the extending tumor into soft tissue by abundant bone production with peripheral shell, and increased ease of en bloc resection. Conclusions: Neoadjuvant denosumab therapy shows promise in managing giant cell tumors of bone (GCTB) by reducing osteoclasts, shrinking tumor volume, and promoting cortical bone formation, thus facilitating en bloc resection. However, further research is needed to confirm these findings.

CHORIOCARCINOME GESTATIONNEL DECOUVERT A J46 DUN ACCOUCHEMENT NORMAL

The choriocarcinoma is a rare and aggressive tumor that can grow quickly and spread easily to other parts of the body, sometimes occurring after spontaneous or elective abortion, tubal pregnancy or, more rarely, normal pregnancy. In our case, we reported abnormal uterine bleeding following vaginal delivery at day46. The post-partum period was unremarkable, and the diagnosis of gestational choriocarcinoma was evoked and retained in view of the clinical, biological and radiological picture, management was multidisciplinary and timely, and the prognosis was favorable.

Uncommon granulomatous manifestation in Epstein-Barr virus-positive follicular dendritic cell sarcoma: a case report.

Hepatic Epstein-Barr virus-positive inflammatory follicular dendritic cell sarcoma (EBV+ IFDCS) represents a rare form of liver malignancy. The absence of distinct clinical and radiological characteristics, compounded by its rare occurrence, contributes to a challenging diagnosis. Here, we report a case of a 54-year-old Chinese female with a background of chronic hepatitis B virus treated with entecavir and complicated by advanced fibrosis presenting with a liver mass found on her annual surveillance ultrasound. Hepatectomy was performed under clinical suspicion of hepatocellular carcinoma. Immunomorphologic characteristics of the tumor were consistent with EBV+ IFDCS with distinct non-caseating granulomatous inflammation. Our case illustrates the importance of considering EBV+ IFDCS in the differential diagnosis of hepatic inflammatory lesions. Awareness of this entity and its characteristic features is essential for accurately diagnosing and managing this rare neoplasm.

Metastatic Mesothelioma of the Tunica Vaginalis Presenting as Scrotal and Abdominal Nodules: A Case Report and Review of the Literature.

Mesothelioma of the tunica vaginalis testis (MMTVT) is a rare neoplasm comprising <3% of all cases of malignant mesothelioma (MM). MMTVT derives from the tunica vaginalis testis, an outpouching of the mesothelial-lined abdominal peritoneum that detaches from the abdominal cavity after the descent of the testis. Similar to pleural mesothelioma, asbestos exposure is a known risk factor. However, MMTVT has a better prognosis than pleural mesothelioma. Cutaneous metastases from MMTVT are exceedingly rare. Herein, we describe a case of a 67-year-old man with a history of asbestos exposure presenting with scrotal pain and indurated plaques on his lower abdomen and scrotum. Histologic sections showed a sheet-like dermal proliferation comprising epithelioid cells with necrosis and increased mitotic activity. The clinical and histologic differential diagnosis was broad, including metastatic carcinoma, melanoma, sarcoma, germ cell tumor, hematologic malignancy, neuroendocrine carcinoma, and malignant mesothelioma. By immunohistochemistry, the neoplastic cells were positive for WT1, D2-40, and AE1/AE3, with rare positivity for calretinin, consistent with a diagnosis of mesothelioma. Additional immunohistochemical studies provided no support for the other diagnostic considerations listed above. BAP1 showed retained nuclear expression (normal) by immunohistochemistry. A DNA sequencing panel identified copy number losses in CDKN2A, MTAP, CDKN2B, and NF2, which are frequently identified genetic alterations in malignant mesothelioma. Subsequent testicular imaging demonstrated a diffusely thickened scrotal wall with an enlarged left testicle. Overall, this represents a case of malignant mesothelioma presenting with cutaneous metastases to the scrotum and lower abdomen, with clinical and imaging features suggestive of primary MMTVT. The International Mesothelioma Interest Group recommends using at least 2 mesothelial markers, such as calretinin, WT1, CK5/6 or D2-40, and 2 epithelial markers, such as claudin-4, CEA, MOC-31, as well as a broad-spectrum cytokeratin stain (AE1/AE3) as part of an initial immunohistochemical panel. Metastatic mesothelioma should be included in the differential diagnosis of malignant epithelioid dermal tumors with unusual staining patterns.

Clinical features of pituitary carcinoma: analysis based on a case report and literature review.

Pituitary carcinoma (PC) is an extremely rare tumor of the adenohypophysis, which manifests as craniospinal dissemination and/or systemic metastasis. The diagnosis of PC is particularly difficult, as the clinical diagnosis only can be made after the metastasis is found. Owing to the complex diagnostic process and less effective treatments, the clinical prognosis of PC is usually very poor. Hence, it is of great significance to illustrate the diagnosis and treatment course of PC. In this case report, we described a 48-year-old male patient who was diagnosed with pituitary adenoma (PA) initially and then was diagnosed with PC eventually after spinal cord metastasis was found, and we illustrated the treatment course as well. Furthermore, we summarized all the published case reports until now and provided a comprehensive review of the diagnosis, treatment, prediction, and clinical outcome of PC. We found that most PC patients had adrenocorticotropic hormone/prolactin (ACTH/PRL)-secreting tumors, Ki-67 ≥ 10%, and P53 positivity, which may have the potential to predict the transformation from PA to PC; surgery excision combined with temozolomide (TMZ) and radiotherapy is helpful to prolong the survival of PC patients.

011. Solid-Pseudopallary Tumor of Pancreas in Childhood, A Case Report

Background: Solid-pseudopapillary tumor of the pancreas (SPT) is an exceptionally rare neoplasm in children. Its origin remains enigmatic. It occurs most frequently in young females within the second or third decade of life with only a small minority concerning children. Frequently described as low malignant potential tumors, surgical resection remains the main treatment. Case: The authors present a case of a SPT diagnosed in a 12-year-old with vomiting and abdominal pain localized to the right upper quadrant 2 week before admission to hospital. The patient also became yellowish since 1 week before. The patient undergo MRI scans and showed the presence Heterogeneous solid mass with components of necrosis and bleeding in it in the head of the pancreas. The patient undergone surgery with the histomorphology result Solid Pseudopapillary Neoplasm of pancreas, low grade malignancy. Conclusion: SPT is a rare differential diagnosis of a pancreatic mass in children. It is mandatory to establish this diagnosis since complete surgical removal of the tumor even in case of metastases or local invasion offers an excellent prognosis

Epithelioid (Histiocytoid) hemangioma of the testis: A case report and literature review of a rare benign tumor.

Testicular hemangioma is a rare benign vascular neoplasm originating from the inner layer of the tunica albuginea, predominantly affecting the pediatric population and often associated with hemangiomas in other organs. Histopathologically can be categorized into four types, including capillary, cavernous, papillary endothelial hyperplasia, and epithelioid (histiocytoid). We report a case of a 24-year-old presenting with left inguinal pain, diagnosed with an epithelioid (histiocytoid) hemangioma of the testis. Diagnostic evaluation included scrotal doppler ultrasonography, which revealed a small, hypoechoic formation with evident vascularization. Serum tumor markers were within normal limits. Surgical excision via testis-sparing surgery (TSS) was performed based on frozen section analysis. A literature review underscores the rarity of testicular histiocytoid hemangiomas. Advancements in diagnostic technique have improved the accuracy of diagnosis and allowed for more conservative surgical approaches, preserving fertility and minimizing long-term adverse effects. In conclusion, while testicular hemangiomas may present characteristic features on ultrasound, frozen section examination remains crucial in guiding surgical decision-making. TSS offers significant advantages over traditional excisional surgery, including reduced morbidity and preservation of cancer control, making it an essential option in the management of testicular hemangiomas, particularly in young patients concerned about fertility preservation.

Clinical and Dermoscopic Characteristics of Cutaneous Chondroid Syringoma: A Systematic Review

Introduction: Cutaneous chondroid syringoma (CS) is a rare benign mixed skin tumor originating from sweat glands. Despite its rarity, accurate diagnosis and management are crucial due to its potential for malignant transformation. Objective: This study aims to provide comprehensive insights into the main features of cutaneous CS, encompassing its epidemiology, clinical presentation, and particularly, dermoscopic findings. Methods: A systematic review was conducted to identify relevant literature on CS up to November 2023. Data extraction included clinical and histopathological characteristics from case reports and small case series. Results: The systematic review identified 347 unique CS cases, predominantly benign. Clinical features included a predilection for the head and neck region, with variations in morphology observed. Dermoscopic patterns, although limited, revealed recurrent features aiding diagnosis. Malignant CS cases constituted a notable subset, exhibiting distinct clinical and histopathological features. Conclusion: Cutaneous chondroid syringoma presents with characteristic clinical and histopathological features, necessitating comprehensive diagnostic approaches. Dermoscopy emerges as a valuable tool, although further research is needed to establish definitive patterns. Treatment primarily involves wide local excision, with collaboration among clinicians essential for optimal management. Future studies are warranted to address existing knowledge gaps and enhance understanding of this rare skin neoplasm.

008. Massive Teratoma Attached to The Inferior Vena Cava and Abdominal Aorta in Pediatric Patient: A Case Report

Background: Massive teratomas are rare and complex tumors that can grow large and involve crucial structures, such as the inferior vena cava (IVC) and abdominal aorta. These tumors can be challenging to resect, especially in pediatric cases, due to their size and proximity to vital organs. Case: A 9-year-old boy was admitted with a history of an abdominal mass first detected at age 3. Over the years, the mass had progressively enlarged, initially the size of a grape and later the size of a tennis ball by age 6. Recent imaging, including CT scans, showed a retroperitoneal mass measuring approximately 20 x 10 cm with characteristics of a mature cystic teratoma. The mass was compressing surrounding structures, including the duodenum, pancreas, and left kidney, and was adherent to both the IVC and abdominal aorta. The surgical team performed a laparotomy with adhesiolysis, extensive tumor excision, and vascular repair. Vascular control was established, and the tumor was successfully removed, including sheared portions of the abdominal aorta, which required ligation and repair of the affected vessels. Conclusion: This case illustrates the complexity and challenges of managing massive retroperitoneal teratomas. Through a multidisciplinary approach, it was possible to achieve complete excision and ensure the patient’s recovery with no immediate complications.

Case Report: Unmasked: Deceptive pediatric spinal meningioma

Introduction Pediatric meningiomas are rare tumors originating from the meninges’ arachnoid cap cells, representing a small fraction of all meningiomas. The clinical presentation of pediatric meningiomas varies widely depending on their location within the central nervous system. We report a case of pediatric spinal meningioma revealed by gait disturbance. We emphasize clinical and imaging features, as well as therapeutic management of spinal meningiomas. Case presentation We present the case of a 15-year-old boy with a one-year history of chronic thoracic back pain, worsening gait disturbances, and difficulty walking. Neurological examination revealed a spastic gait with increased muscle tone and bilateral pyramidal syndrome. Magnetic resonance imaging (MRI) demonstrated a posterior intradural extramedullary mass at the T6-T7 level, causing dorsal spinal cord compression. The patient underwent complete resection of the tumor, and histological examination confirmed the diagnosis of a WHO grade I psammomatous spinal meningioma. Conclusion This case highlights the clinical and imaging characteristics of spinal meningiomas in pediatric patients. MRI remains the gold standard for diagnostic imaging, effectively narrowing down differential diagnoses. However, a definitive diagnosis requires histological examination. The primary therapeutic approach for pediatric meningiomas is surgical resection.