Rare Tumor Research Articles

Pleomorphic rhabdomyosarcoma of the vagina: A case report

BACKGROUND Rhabdomyosarcoma (RMS) of the vagina in postmenopausal women is an extremely rare malignant tumor that was originally described as a unique group of soft tissue sarcomas originating from primitive mesenchymal cells. It was first reported in postmenopausal women in 1970, and fewer than 50 postmenopausal patients have been reported to date. CASE SUMMARY A 68-year-old multiparous female was admitted to the hospital on October 11, 2023, with the chief complaint of a mass causing vaginal prolapse with incomplete urination that had persisted for 4 months. The vaginal mass was approximately the size of a pigeon egg; after lying down, the vaginal mass retracted. Complete resection was performed, and vaginal pleomorphic RMS was diagnosed based on pathology and immunohistochemical staining features. The patient is currently undergoing chemotherapy. The present study also reviewed the clinical, histological, and immunohistochemical features and latest treatment recommendations for vaginal RMS. Any abnormal vaginal mass should be promptly investigated through pelvic examination and appropriate imaging. The current initial treatment for vaginal RMS is biopsy and primary chemotherapy. CONCLUSION When surgery is planned for vaginal RMS, an organ-preserving approach should be considered.

Inflammatory myofibroblastic tumor of urinary bladder in young male: A case report and literature review

The objective of this study is to present a rare case of inflammatory myofibroblastic tumor (IMT) of the urinary bladder in young male, detailing its clinical presentation, diagnostic approach, treatment strategy, and outcome. Additionally, the objective includes conducting a literature review to provide insights into the characteristics, management, and prognosis of this uncommon tumor entity.A 20-year-old male presenting with dysuria and dribbling of urine underwent diagnostic workup including imaging studies, cystoscopy. On cystoscopy there was a presence of 5x4 cm sized pedunculated mass in the urinary bladder. Partial cystectomy is done and specimen is examined for histopathology. Histopathological examination and Immunohistochemistry study of the tumor specimen was performed to confirm the diagnosis of inflammatory myofibroblastic tumor. A thorough literature review was conducted to gather relevant studies on IMT of the urinary bladder, focusing on clinical presentations, diagnostic modalities, treatment approaches, and outcomes. Diagnostic evaluation revealed a mass lesion in the urinary bladder, and histopathological examination following partial cystectomy confirmed the diagnosis of inflammatory myofibroblastic tumor. The patient underwent surgical excision of the tumor followed by adjuvant therapy. Regular follow-up examinations showed no evidence of tumor recurrence. The literature review identified a limited number of reported cases of IMT of the urinary bladder in young male, emphasizing its rarity and diverse clinical presentations. Various diagnostic modalities and treatment options, including surgery, chemotherapy, and targeted therapy, were discussed in the reviewed literature. Inflammatory myofibroblastic tumor of the urinary bladder is a rare neoplasm at younger age that can present with nonspecific symptoms, making its diagnosis challenging. However, timely recognition and appropriate management, including surgical resection and adjuvant therapy, can lead to favorable outcomes with low recurrence rates. This case report highlights the importance of considering IMT in the differential diagnosis of bladder masses in young patient and underscores the need for further research to better understand the pathogenesis and optimal treatment strategies for this rare tumor entity.

A rare case report ofIntracholecystic papillary-tubular neoplasm of the gall bladder

The understanding of Intracholecystic Papillary Neoplasm (ICPN) in the gallbladder is a recent development, hypothesized to have similarities in clinical and pathological traits with Intraductal Papillary Mucinous Neoplasm (IPMN) of the pancreas and Intraductal Papillary Neoplasm of the Bile Duct (IPNB). In this report, we present an uncommon instance of Intracholecystic Papillary-Tubular Neoplasms in a 38-year-old male. Although Intracholecystic Papillary Neoplasm (ICPN) is uncommon in the gallbladder lining, it typically presents a more favorable prognosis in contrast to gallbladder adenocarcinoma. Nonetheless, it still possesses the potential for metastatic spread to other organs. Our discussion delves into this patient’s case within the context of current literature on ICPN, while also delineating future avenues for enhancing clinical comprehension. Moreover, we emphasize the importance of implementing screening protocols, taking into account identified risk factors, to elucidate the natural course of the disease and deter its progression into invasive gallbladder carcinoma.

Undifferentiated high-grade pleomorphic sarcoma of the common bile duct: A case report and review of literature

BACKGROUND Undifferentiated pleomorphic sarcoma (UPS) is a rare malignant mesenchymal tumor with a poor prognosis. It mainly occurs in the extremities, trunk, head and neck, and retroperitoneum regions. Owing to the lack of specific clinical manifestations and imaging features, UPS diagnosis mainly depends on pathological and immunohistochemical examinations for exclusive diagnosis. Here we report an extremely rare case of high-grade UPS in the common bile duct (CBD). There are limited available data on such cases. CASE SUMMARY A 70-year-old woman was admitted to our department with yellow eyes and urine accompanied by upper abdominal distending pain for 2 wk. Her laboratory data suggested significantly elevated hepatorenal function levels. The imaging data revealed calculous cholecystitis, intrahepatic and extrahepatic bile duct dilation with extrahepatic bile duct calculi, and a space-occupying lesion at the distal CBD. After endoscopic biliary stenting and symptomatic support therapy, CBD exploration and biopsy were performed. The frozen section indicated malignant spindle cell tumor of the CBD mass, and further radical pancreaticoduodenectomy was performed. Finally, the neoplasm was diagnosed as a high-grade UPS combined with the light-microscopic morphology and immunohistochemical results. CONCLUSION This extremely rare case highlighted the need for increasing physicians' vigilance, reducing the odds of misdiagnosis, and providing appropriate treatment strategies.

Pulmonary artery sarcoma affecting the pulmonary valve mistaken as pulmonary vasculitis: a case report and comparative literature review

Pulmonary arterial sarcomas (PAS) are rare aggressive tumours occurring mainly in the pulmonary trunk. We report a case of PAS involving the pulmonary trunk wall and valve, with uniform wall thickening which represents an atypical imaging manifestation of this tumour. A 63-year-old male presented with vague respiratory symptoms with rapid progression. CTPA showed low density filling defects in both pulmonary arteries and PET scan showed increased uptake in the pulmonary trunk, which along with raised ESR suggested Pulmonary Vasculitis. Echo imaging showed Right ventricular hypertrophy and pulmonary stenosis. Response to steroid therapy was minimal and his symptoms worsened. A referral for second opinion was made and he was diagnosed with PAS. He underwent Pulmonary thromboendarterectomy with Pulmonary valve replacement. Post-operative histopathology confirmed the diagnosis. PAS is rare and frequently misdiagnosed. Surgical resection is not curative, but together with chemotherapy can prolong survival.

Multi-omics technologies and analyses provide the biological insights and therapeutic strategies for rare tumors

Multi-omics technologies and analyses provide the biological insights and therapeutic strategies for rare tumors

Peripheral Odontogenic Myxoma of Zygoma and Orbital Region - A Unique Case Report with Review of Literature

Abstract Rationale: Peripheral odontogenic myxoma (POM) is a rare mesenchymal tumour and it is the first case report of POM involving orbital and zygoma region. Patient Concerns: A 16-year-old male presented with a painless, slow-growing swelling over his left infratemporal region. Diagnosis: The histopathological examination of the tumour was diagnosed as POM. Treatment: The patient was treated by surgical removal of tumour under general anaesthesia. Outcomes: The patient has been under follow-up for the past 2.5 years and there has been no recurrence. Take-Away Lessons: POM is a rare mesenchymal tumour. To our knowledge, this is only the second report of a POM of the infratemporal region and the first report of a myxoma, which extends into the zygomatic region and lateral wall of the orbit.

Primary Cutaneous Apocrine Carcinoma: Diagnostic and Management Difficulties of an Uncommon Neoplasm

Primary cutaneous apocrine carcinoma (PCAC) is a rare adnexal neoplasm. Due to its clinical presentation, it can mimic other tumors, especially metastasis. We present a case of primary apocrine carcinoma of the axilla mimicking breast carcinoma metastasis in a 54-year-old woman. The patient presented with a painless, lobed, and erythematous nodule in the left axilla of one year duration. We suspected an adnexal neoplasm but also considered metastasis from breast carcinoma. Histological examination revealed apocrine proliferation. Immunohistochemistry stains of tumor cells were positive for AE1/AE3, and negative for CK7, CK20, p63 and GATA3. Radiological explorations did not reveal any signs of malignancy. Considering all these features, the conclusive diagnosis was primary cutaneous apocrine carcinoma. Treatment was wide excision without adjuvant therapy, and no recurrence was noted. Due to the rarity of this carcinoma, its various clinical presentations, and histological overlaps with breast cancer metastasis, making the diagnosis may be challenging. A comprehensive evaluation of all findings is necessary to rule out other tumors. There is any consensus on the management strategy. The standard treatment is surgical excision, but adjuvant therapies such as radiotherapy or chemotherapy can be proposed in advanced stage disease.

Malignant Abrikossoff’s Tumour of the Tonsil - A Case Report of a Rare Entity

Abstract Rationale: This study aimed to report an uncommon site of origin of a rare head-and-neck cancer, namely malignant granular cell tumour. Patient Concerns: An 89-year-old female patient complained of persistent pharyngodynia and odynophagia for two months. Diagnosis: Upon clinical examination, the right palatine tonsil was larger and palpably firmer than the contralateral. An incisional biopsy of the lesion was performed under local anaesthesia revealing malignant granular cell tumour. A contrast-enhanced computed tomography (CECT) scan of the head and neck and an 18F-fluoro-2-deoxy-D-glucose positron emission tomography (PET) scan confirmed the presence of a pathologic appearance of the right palatine tonsil without nodal or distant metastasis. Treatment: Following a multidisciplinary consultation and the patient’s informed permission, a right tonsillectomy extended to the constrictor muscle fibres of the upper pharynx was performed. Outcomes: The tumour was staged as pT2 R0 cN0 M0, according to the AJCC 8th edition for soft-tissue tumours of the head and neck. Due to the early stage and the radicality of surgery, no further adjuvant treatments were provided. The patient is currently followed up with no evidence of disease one year post-operatively. Take-away Lessons: Granular cell tumours are rare mesenchymal tumours, firstly described by the pathologist Abrikossoff in 1926. This type of tumour constitutes approximately 0.5% of all soft-tissue tumours, and can affect any part of the body, with the head and neck being the most frequently involved site. The tonsil is an extremely rare localisation of this cancer. The differential diagnosis of unilateral tonsillar enlargement should also include this histological entity.

Epithelioid sarcoma: a rare cause of refractory chronic skin ulcers.

We report two cases of chronic skin ulcers that were misdiagnosed as skin and soft tissue infections and inflammatory myofibroblastic tumor before the final diagnosis of epithelioid sarcoma at our institution. We believe that our coverage of this rare but fatal tumor that can cause chronic skin ulcers is critical, as early diagnosis and treatment can reduce morbidity and mortality.

Chondrosarcoma evaluation using hematein-based x-ray staining and high-resolution 3D micro-CT: a feasibility study

BackgroundChondrosarcomas are rare malignant bone tumors diagnosed by analyzing radiological images and histology of tissue biopsies and evaluating features such as matrix calcification, cortical destruction, trabecular penetration, and tumor cell entrapment.MethodsWe retrospectively analyzed 16 cartilaginous tumor tissue samples from three patients (51-, 54-, and 70-year-old) diagnosed with a dedifferentiated chondrosarcoma at the femur, a moderately differentiated chondrosarcoma in the pelvis, and a predominantly moderately differentiated chondrosarcoma at the scapula, respectively. We combined a hematein-based x-ray staining with high-resolution three-dimensional (3D) microscopic x-ray computed tomography (micro-CT) for nondestructive 3D tumor assessment and tumor margin evaluation.ResultsWe detected trabecular entrapment on 3D micro-CT images and followed bone destruction throughout the volume. In addition to staining cell nuclei, hematein-based staining also improved the visualization of the tumor matrix, allowing for the distinction between the tumor and the bone marrow cavity. The hematein-based staining did not interfere with further conventional histology. There was a 5.97 ± 7.17% difference between the relative tumor area measured using micro-CT and histopathology (p = 0.806) (Pearson correlation coefficient r = 0.92, p = 0.009). Signal intensity in the tumor matrix (4.85 ± 2.94) was significantly higher in the stained samples compared to the unstained counterparts (1.92 ± 0.11, p = 0.002).ConclusionsUsing nondestructive 3D micro-CT, the simultaneous visualization of radiological and histopathological features is feasible.Relevance statement3D micro-CT data supports modern radiological and histopathological investigations of human bone tumor specimens. It has the potential for being an integrative part of clinical preoperative diagnostics.Key points• Matrix calcifications are a relevant diagnostic feature of bone tumors.• Micro-CT detects all clinically diagnostic relevant features of x-ray-stained chondrosarcoma.• Micro-CT has the potential to be an integrative part of clinical diagnostics.Graphical

An Unpropitious Surprise Post Vaginal Hysterectomy – A Case of Incidentally Discovered Extra-Gastrointestinal Stromal Tumour

Extra-gastrointestinal stromal tumours (EGIST) are rare mesenchymal tumours that arise outside the gastrointestinal tract and mainly affect the omentum, mesentery, and retroperitoneum. We report a case of EGIST in an elderly female patient at an unusual location. The patient was referred to our centre with hemoperitoneum post vaginal hysterectomy for the treatment of third-degree utero-vaginal prolapse. Ultrasonography (USG) of abdomen and pelvis was done which revealed a heterogenous tumour in the upper abdomen. The tumour mass measured 23x18x8.5cms and was abutting the greater curvature of stomach without infiltration. A diagnosis of extra-gastrointestinal stromal tumour, spindle cell type, high grade, with pseudo signet ring appearance was rendered based on the morphology and immunohistochemistry with CD117(c-kit) and DOG1. Rupture of cancerous mass in the abdomen is one of the causes to be kept in mind in hemoperitoneum and EGIST should be considered in the differential diagnosis of large, multi-nodular, primary lesions of the abdomen. A high degree of suspicion is needed as these patients present late and are often diagnosed incidentally during investigations for unrelated medical conditions. 10% of EGISTs are primarily disseminated and the site of origin cannot be established with certainty, emphasizing the enigma of its origin as encountered in the present case.International Journal of Human and Health Sciences Vol. 08 No. 02 Apr’24 Page: 207-211

Squamous cell carcinoma of the nail in patients with Fitzpatrick phototypes IV-VI: a systematic review.

Squamous cell carcinoma of the nail unit (nSCC) is a rare malignant tumor of the hand and nail. Although skin cancer rarely affects individuals with phototypes IV-VI, its occurrence in these groups is often associated with greater morbidity and mortality. This study aims to characterize the clinical symptoms, presentations, and treatments of nSCC in patients with darker skin types. A systematic review of PubMed and Embase was performedin May 2023 for all peer-reviewed, English-language nSCC studies involving individuals with Fitzpatrick types IV-VI. Most tumors were located on the fingernails (84%), with the right third finger being the most frequently affected (31%). The nail bed (67%) exhibited a higher prevalence than the lateral/proximal nail folds (33%). The duration of symptoms before diagnosis ranged from 1 month to 7 years. nSCC was most commonly treated with Mohs surgery (38%), followed by amputation (35%). Our study was limited to case reports because of a lack of large nSCC studies that provide information on race or images of each patient. These tumors are generally slow-growing yet often misdiagnosed, leading to delays in presentation and diagnosis. Increased awareness about nSCC in phototype IV-VI individuals will reduce misdiagnoses, unnecessary treatment, and recurrences.

[Clinical characteristics and research progress of ocular Merkel cell carcinoma].

Merkel cell carcinoma (MCC) is a rare, aggressive epithelial and neuroendocrine tumor. MCC typically presents as painless nodules or patches rapidly growing in sun-exposed skin areas. Ocular MCC accounts for approximately 2.5% of all cases and may be misdiagnosed as granuloma or basal cell carcinoma. Risk factors for development include advanced age, ultraviolet exposure, male gender, immunosuppression, and Merkel cell polyomavirus infection. Treatment involves wide local excision with adjuvant radiotherapy, chemotherapy is typically reserved for metastatic disease, and immunotherapy and targeted therapy are currently under investigation showing promising early outcomes. This article summarizes the clinical characteristics and research progress of ocular MCC.

UK guidelines for the management of soft tissue sarcomas.

Soft tissue sarcomas (STS) are rare tumours arising in mesenchymal tissues and can occur almost anywhere in the body. Their rarity, and the heterogeneity of subtype and location, means that developing evidence-based guidelines is complicated by the limitations of the data available. This makes it more important that STS are managed by expert multidisciplinary teams, to ensure consistent and optimal treatment, recruitment to clinical trials, and the ongoing accumulation of further data and knowledge. The development of appropriate guidance, by an experienced panel referring to the evidence available, is therefore a useful foundation on which to build progress in the field. These guidelines are an update of the previous versions published in 2010 and 2016 [1, 2]. The original guidelines were drawn up by a panel of UK sarcoma specialists convened under the auspices of the British Sarcoma Group (BSG) and were intended to provide a framework for the multidisciplinary care of patients with soft tissue sarcomas. This iteration of the guidance, as well as updating the general multidisciplinary management of soft tissue sarcoma, includes specific sections relating to the management of sarcomas at defined anatomical sites: gynaecological sarcomas, retroperitoneal sarcomas, breast sarcomas, and skin sarcomas. These are generally managed collaboratively by site specific multidisciplinary teams linked to the regional sarcoma specialist team, as stipulated in the recently published sarcoma service specification [3]. In the UK, any patient with a suspected soft tissue sarcoma should be referred to a specialist regional soft tissues sarcoma service, to be managed by a specialist sarcoma multidisciplinary team. Once the diagnosis has been confirmed using appropriate imaging and a tissue biopsy, the main modality of management is usually surgical excision performed by a specialist surgeon, combined with pre- or post-operative radiotherapy for tumours at higher risk for local recurrence. Systemic anti-cancer therapy (SACT) may be utilised in cases where the histological subtype is considered more sensitive to systemic treatment. Regular follow-up is recommended to assess local control, development of metastatic disease, and any late effects of treatment.

Glomangiopericytoma of the Nasal Sinus Mimicking Dacryocoele: A Case Report and Literature Review

Introduction: Glomangiopericytoma (GPC) of the nasal sinus is a rare mesenchymal tumor that can mimic various benign pathologies in this anatomical region. We report an unusual clinical case and describe the diagnostic and therapeutic challenges encountered. Case Presentation: A 62-year-old woman presented with swelling of the left inner eye angle, tearing, and ipsilateral nasal obstruction. Clinical examination and imaging initially suggested chronic dacryocystitis. A polypoid nasal sinus mass was detected on endoscopy and computed tomography. Complete excision was performed via endoscopic nasal sinus surgery. The histopathological analysis confirmed the definitive diagnosis of glomangiopericytoma. Discussion: Nasal sinus GPC is a rare tumor, typically benign, derived from perivascular cells. Its clinical presentation is nonspecific and can mimic more common pathologies. Diagnosis is based on imaging and histopathological analysis with immunohistochemistry. The treatment of choice is complete surgical excision, preferably via minimally invasive endoscopic approach. Long-term close monitoring is recommended due to the risk of local recurrence. Conclusion: This clinical case highlights the importance of considering glomangiopericytoma in the differential diagnosis of nasal sinus masses, even in cases of initial benign presentation. A multidisciplinary approach, involving imaging, surgery, and histopathological analysis, is essential for optimal management.

Li-Fraumeni Syndrome With Six Primary Tumors—Case Report

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with a high, lifetime risk of a broad spectrum of cancers caused by pathogenic germline TP53 mutations. Numerous different germline TP53 mutations have been associated with LFS, which has an exceptionally diverse clinical spectrum in terms of tumor type and age of onset. Our patient has developed six asynchronous tumors to date: a phyllode tumor of the breast, a pheochromocytoma, a rosette-forming glioneuronal tumor (RGNT), an adrenocortical carcinoma (ACC), a ductal carcinoma of the breast, and a thymoma. The occurrence of such a number of rare tumors is sporadic even among in the population of patients living with cancer predisposition syndromes. In this instance, the omission of pretest genetic counseling and thorough family tree analysis prior to selecting the test led to the oversight of an underlying TP53 likely pathogenic mutation (classified as Class 4). This emphasizes the necessity for such counseling to prevent overlooking crucial genetic information. Neglecting this step could have had profound implications on the patient’s treatment, particularly considering the early onset and occurrence of multiple tumors, which typically raise suspicion of a hereditary component. The implications for family members must be considered.

Malignant Tumor of the Sheaths and Peripheral Nerves: A Case Report

Malignant Peripheral Nerve Sheath Tumors (MPNST) are a rare anatomopathological subtype of soft tissue sarcoma. We report a case of MPNST in a patient without a history of neurofibromatosis. He presented with a progressively developing ulcerobourgennate lesion on the left buttock. Histopathological analysis of a biopsy of the mass confirmed MPNST. These are rare tumors that can occur in patients without any particular history and are difficult to manage at an advanced stage.

Malignant glomus tumor of the breast: a case report

Malignant glomus tumor (MGT) is a rare mesenchymal neoplasm. It is rarely located in the breast. We present a case of a 57-year-old female patient presenting with complaints of a progressively growing mass found in her left breast. Though multiple imaging examinations have been performed, especially multimodal ultrasound examinations, an accurate diagnosis still cannot be determined. Finally, the lesion was confirmed to be a MGT of the breast by postoperative pathological diagnosis. In conclusion, MGT originating from breast is extremely rare. No such case has ever been described before. This study demonstrates the imaging characteristics of a patient with MGT of the breast in order to provide more extensive insights to consider the differential diagnosis of breast lesions.

Dermatofibrosarcoma of Darrier and Ferrand: Recurrency Character: A Case-Report (Experience of the University Hospital Tangier-Tetouan-Al Hoceima)

Introduction: Dermatofibrosarcoma of Darier and Ferrand (DFSP) is a rare skin tumor characterized by its local aggressiveness and high potential. Its prognosis depends essentially on the quality of its management. Observation and Results: In this article, we report the case of a young patient treated at the Department of Plastic, Reconstructive and Aesthetic Surgery, Tangier, for a Darier and Ferrand dermatofibrosarcoma that recurred five times after surgical excision, with a 5-cm margin on the surface and a healthy anatomical barrier at depth. Coverage of the loss of substance (LOS) was performed after anatomopathological confirmation of the carcinological nature of the excision, and essentially involved skin grafting. Despite a course of radiotherapy prescribed at the 4th recurrence, a 5th rapid recurrence was noted. Discussion: The great clinical, histological and evolutionary polymorphism of this type of sarcoma results in an underestimated incidence and explains the delay in diagnosis. Recurrences are frequent, and usually local. Initial wide surgical excision is the reference treatment, and directly conditions the prognosis of DFSP. According to several studies, recurrence may depend on the quality of surgical excision, but could also be attributed to genetic or environmental factors, or to variations in the histological subtype of the sarcoma. Conclusion: Darier Ferrand is an uncommon tumor with local malignancy, whose evolutionary risk depends mainly on the quality of the initial excision. The chances of cure in the case of well performed primary surgery are significantly higher than in the case of salvage surgery. Tumor excision must the refore be wide and deep, with sacrifice of a healthy barrier at depth.