Rare Tumors最新文献

Extranodal natural killer/T-cell lymphoma is a rare and aggressive malignancy with a predilection for Asian and Latin American populations. While typically presenting in the nasal cavity, extranasal forms-particularly primary pulmonary extranodal natural killer/T-cell lymphoma -are exceedingly rare and diagnostically challenging. We report the first documented case of primary pulmonary extranodal natural killer/T-cell lymphoma arising after chemotherapy for classical Hodgkin lymphoma (cHL), presenting concurrently with a nodal relapse of cHL in a 26-year-old male. Histopathological analysis confirmed synchronous diagnoses of Ebstein Barr virus-positive extranodal natural killer/T-cell lymphoma in lung tissue and Hodgkin lymphoma in lymph node biopsy. The patient responded favorably to DDGP chemotherapy followed by haploidentical stem cell transplantation. This case highlights the need for heightened clinical suspicion and histological confirmation in atypical lymphoma relapses, and underscores the complex interplay between Ebstein Barr virus infection, prior chemotherapy, and lymphomagenesis. Further research is warranted to clarify the pathogenesis and optimize treatment of metachronous extranodal natural killer/T-cell lymphoma following Hodgkin lymphoma.

Lenvatinib, a multi-kinase inhibitor, has shown promising activity in unresectable thymic carcinoma, but long-term real-world data are scarce. We describe a 72-year-old woman with Masaoka stage IVb thymic squamous cell carcinoma who experienced disease progression after ADOC chemotherapy and multiple courses of thoracic radiotherapy. Lenvatinib was initiated at 24 mg/day and reduced to 8 mg/day because of hypertension, hemoptysis, and hypothyroidism. The patient achieved 23 months of disease stabilization before sudden death at home. Postmortem imaging suggested acute exacerbation of interstitial pneumonia. This case highlights the potential of lenvatinib to achieve prolonged disease control even at reduced doses and underscores the need for careful pulmonary monitoring in patients with prior thoracic irradiation.

Rare tumors are a heterogeneous group of neoplasms with low incidence and are usually difficult to diagnose. Certain tumors that are common at specific anatomical locations rarely occur at unexpected locations and cause diagnostic challenges. Although histopathology is central to the diagnosis of these lesions, as with any tumor, ancillary techniques such as immunohistochemistry and molecular studies are often essential. In addition, a multidisciplinary approach that includes clinical, radiological, and biochemical inputs plays an important role in achieving an accurate diagnosis. A total number of 10 benign and malignant neoplastic lesions at rare locations were analyzed. Immunohistochemistry was performed for the required cases. The 10 cases included were: primary nasal meningioma, malignant melanoma of the lacrimal sac, metastatic synovial sarcoma of the thyroid, malignant teratoma of the thyroid, papillary serous cystadenocarcinoma of the paratestis, leiomyoma of the testis, squamous cell carcinoma arising in an epidermoid cyst, intraarticular synovial sarcoma of the knee, Ewing sarcoma of the kidney, and primary plasmacytoma of the breast. Knowledge and awareness of these entities improve the quality of reporting in any individual case. As a group, these lesions require further studies to enhance the understanding of their pathogenesis and patient care.

Spontaneous regression of metastatic disease in the setting of advanced cancer is a poorly understood clinical phenomenon which occurs infrequently across all tumour types but exceptionally rarely in soft tissue sarcomas. Extraskeletal myxoid chondrosarcoma (EMC) is a rare subtype of soft tissue sarcoma that is poorly responsive to systemic treatment, providing limited options to patients with metastatic disease. We report spontaneous regression of lung metastases in a patient with EMC after re-resection of the primary tumour, which was performed with palliative intent for symptom control after multiple lines of systemic treatment. The patient has remained disease-free and is now more than 5 years post-surgery. To our knowledge, this is the first described case of spontaneous regression of metastatic disease following resection of a primary tumour in a patient with EMC.

Anaplastic lymphoma kinase (ALK) alterations, including activating mutations, amplifications, and fusions/rearrangements, are found in approximately 3.3% of cancers, including over 50% of inflammatory myofibroblastic tumors. Tyrosine kinase inhibitors to target ALK have significant activity against ALK-mutant cancers, including next generation inhibitors to combat frequent resistance. Here, we present a patient diagnosed with high grade metastatic inflammatory myofibroblastic tumor driven by a RANBP2::ALK fusion, who later developed an ALK G1202R resistance mutation in the setting of treatment with crizotinib. Upon changing therapy to lorlatinib, which is effective against this mutation in lung cancer, the patient again achieved a response that permitted surgical resection. The patient remains without evidence of disease now 18 months after discontinuing adjuvant lorlatinib. This case illustrates the importance of serial molecular profiling to guide selection of the optimal ALK inhibitor for the best clinical outcomes.

Purpose: This study aimed to delineate the clinicopathological characteristics of trichilemmal carcinoma (TLC) in China, analyze its evolving epidemiological trends, and provide insights to improve clinical diagnosis and management through a comprehensive literature review and case-based analysis. Methods: A retrospective analysis of 40 years (1984-2023) was conducted by reviewing Chinese and English databases for TLC cases in Chinese populations. Data on epidemiology, clinical presentation, histopathology, treatment modalities, and prognosis were systematically collated, supplemented by a detailed case report to illustrate diagnostic and therapeutic challenges. Results: Among 230 documented cases, TLC exhibited a near-equal gender distribution (113 males, 117 females) and a rising incidence, with 50.43% (116/230) reported in the last decade (2014-2023). The patients showed a broad age distribution (20-97 years), with lesions predominantly concentrated in the head/neck region (87.83%, 202/230). Non-specific clinical features (papules, nodules, ulceration) contributed to frequent misdiagnosis. Metastasis (13 cases) and recurrence (14 cases), primarily in head/neck tumors, correlated with high mortality. Immunohistochemistry identified CK-H and EMA as key positive markers and S-100/CK-L as negative discriminators, with 23.91% (55/230) showing periodic acid-Schiff (PAS) positivity. Surgical excision was the primary treatment (87.39%), while adjuvant therapies (radiotherapy/chemotherapy) demonstrated limited efficacy. Conclusion: The increasing incidence of TLC in China, its anatomical predisposition to aggressive behavior, and poor prognosis in metastatic/recurrent cases necessitate improving early detection and optimizing treatment strategies for this rare malignancy.

Fungating testicular germ cell tumours represent a rare and extreme manifestation of neglected testicular cancer. These cases typically arise after significant delays in presentation, reflecting advanced local disease and, in many instances, concurrent metastatic spread. We present the case of a 41 year-old man with a year-long history of a progressively enlarging, ulcerated scrotal mass. Biopsy confirmed seminoma without evidence of metastasis. Given the extent of local disease, the patient received neoadjuvant etoposide-cisplatin chemotherapy, resulting in dramatic tumour regression. This facilitated a radical orchidectomy and wide local excision with primary closure and clear margins. He remains disease-free 12 months post-treatment. To better understand the management and outcomes of this rare presentation, a narrative review was performed, indentifying 19 comparable cases of fungating GCTs over the past 28 years. The median age at presentation was 36, with a median diagnostic delay of 6 months. Non-seminomatous subtypes, particularly embryonal carcinoma, predominated and carried a higher risk of metastasis. While upfront surgery was attempted in ten cases, it frequently required extensive resections and yielded positive margins. In contrast, six patients received neoadjuvant chemotherapy, leading to marked tumour regression in five, improved surgical outcomes, and no reported positive margins. These findings highlight the potential advantages of neoadjuvant chemotherapy in managing extensive, locally advanced GCTs, even in Stage I disease. While concerns exist regarding infection risk in the setting of fungating tumours, these were not borne out in the reviewed cases. Multidisciplinary input is invaluable in optimising sequencing of therapy in such complex presentations.

Inguinal sebaceous gland carcinoma is extremely rare, often mistaken for inflammatory skin lesions, leading to delays in diagnosis and treatment. We reported a rare clinical case of a 59-year-old male patient who presented to the hospital with a lesion in the left groin area, characterized by raised nodules, gradually increasing in size, accompanied by itching. The disease had been progressing for over 3 years, with no prior history of sexually transmitted infections or urinary tract infections. The patient underwent wide local excision surgery with lymph node dissection. Histopathological findings and postoperative immunohistochemistry confirmed sebaceous gland carcinoma presenting in the left groin area with metastasis to 2 groin lymph nodes. After surgery, the patient underwent adjuvant radiation therapy. At the end of the radiation therapy, no tumor recurrence was detected, and no radiation-related toxicity was noted. The patient was discharged and followed up regularly. The patient remains stable after 6 months of follow-up, with no signs of disease recurrence or treatment complications. In conclusion, inguinal sebaceous gland carcinoma is sporadic, so clinical features and optimal treatment methods are poorly understood. Further research is warranted to clarify this rare condition.

Solitary fibrous tumours (SFT) are very rare mesenchymal neoplasms. While surgery remains a standard treatment for localised disease, effective and long term treatment options for metastatic disease are lacking, making the use of aldoxorubicin a novel and promising systemic treatment in SFTs. We present a 30-year-old male who underwent surgical resection for a solitary fibrous tumour of the right leg. Postoperative imaging revealed metastatic disease in the liver and left upper quadrant. He was initially treated with pazopanib but experienced disease progression after 24 weeks. The patient was then enrolled on a phase III trial evaluating aldoxorubicin for advanced soft tissue sarcomas and received 350 mg/m² (260 mg/m² doxorubicin equivalent) intravenously every 21 days, cumulative dose being 9100 mg/m². Treatment was well tolerated, with manageable toxicities including alopecia, leukopenia, mucositis, and grade 3 neutropenia requiring G-CSF support. Notably, serial echocardiograms showed no evidence of cardiotoxicity, with a preserved ejection fraction (56-65%). He completed 26 cycles with stable disease, followed by a 7-month treatment break before receiving compassionate-use aldoxorubicin. Disease stability persisted for 6 months until progression, which was treated with radiotherapy. Three months later, systemic progression led to treatment discontinuation. This case illustrates the favourable cardiac safety profile of aldoxorubicin and efficacy in solitary fibrous tumours.

Purpose: This real-world data study evaluates demographic and clinical characteristics and survival in patients with liposarcoma to inform our understanding of treatment patterns and associated outcomes in this rare cancer. Materials and methods: A retrospective cohort study was conducted using existing data available through the Clinical Practice Research Datalink. Male and female patients aged 18 years or older who had their first ever record of liposarcoma between 1998 and 2018 were included in the study. The demographic and tumour characteristics were presented (overall, by first line treatment and for dedifferentiated liposarcoma only) as proportions (percentages) while continuous variables were presented as means with standard deviation and interquartile ranges. Survival rates from diagnosis date and first line treatment (with 95% confidence intervals) were also calculated. Results: 1,315 patients were included, of which 46% (611) had a treatment recorded. Most patients were male and over the age of 60 years. Surgery was the most frequent treatment received following diagnosis (34% of all patients), followed by radiotherapy (8%) and chemotherapy (2.4%) with the remaining patients having no record of treatment available. Overall, there was a 77% probability of survival after diagnosis at 5 years. Conclusions: Findings from this study help advance our understanding of real world patient characteristics, treatment patterns and survival outcomes in a rare and heterogeneous cancer, which may be useful for guiding clinical management. This study also identified challenges with using real world data, which can be minimised through improving data collection and standardisation.