Case Reports in Oncological Medicine最新文献

Sarcoma with BCOR genetic alteration is an exceptionally rare and emerging subtype of sarcoma. It is categorized into two types: BCOR-related gene fusions such as BCOR::CCNB3 sarcomas and other BCOR-rearranged sarcoma and sarcomas with internal tandem duplication of BCOR genes such as infantile undifferentiated round cell sarcomas and primitive myxoid mesenchymal tumors of infancy. BCOR::CCNB3 sarcomas predominantly arise in bone rather than soft tissue and exhibit a higher occurrence in children and adolescent males, whereas sarcomas with BCOR internal tandem duplication show a wider age range but usually arise in the first year of life. Due to their rarity, there is ongoing debate and uncertainty regarding the best treatment approach, with a lack of specific clinical trials addressing these tumors. In this report, we present a unique case of sarcoma with internal tandem duplication of BCOR gene originating in the nasal region. The tumor was successfully and completely resected using the standard VDC-IE chemotherapy protocol, resulting in an unprecedented 100 percent tumor necrosis. The patient has completed the protocol and remains recurrence-free 13 months after diagnosis. This case suggests potential efficacy of the standard VDC-IE protocol in achieving remarkable responses in BCOR rearrangement sarcomas, including the internal tandem duplication subtype. However, further studies are needed to determine the optimal treatment strategies for this disease.

Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare but known and potentially severe side effect of drugs. The recent development of cyclin-dependent kinase 4/6 (CDK4/6) inhibitors, such as ribociclib, has considerably improved the management of hormone receptor positive (HR+) and HER2 negative (HER2-) advanced breast cancer. Here, we present the case of an 83-year-old patient who developed a probable DRESS syndrome induced by ribociclib, presenting with fever, eosinophilia, rash, and hepatic cytolysis. The RegiSCAR score was 4. The symptomatology evolved favorably with topical and systemic corticosteroids, without any sequel. Another CDK4/6 inhibitor, palbociclib, was introduced later without any cross-toxicity and with an excellent therapeutic response for more than 3 years.

Paraneoplastic Cushing's syndrome arises when neuroendocrine tumors cause excess glucocorticoid production. We report a case of ectopic ACTH-producing liver neuroendocrine tumor. A 71 y.o. female with a history of rectal squamous carcinoma presented with fatigue and diffuse swelling. Liver biopsy revealed metastatic neuroendocrine carcinoma. Workup revealed markedly elevated morning cortisol and ACTH. Overnight dexamethasone suppression testing and positive immunostaining for ACTH on biopsy suggested paraneoplastic Cushing's syndrome secondary to neuroendocrine hepatic tumors with bony metastasis. This explained the patient's persistent anasarca, hyperglycemia, and electrolyte abnormalities. Despite multiple interventions, the patient's clinical status declined, and she expired.

Glioblastoma multiforme (GBM) is the most frequent malignant and aggressive type of glioma. Most cases of GBM present as a single solitary solid tumor; however, there are rare instances in which it may present as a cystic lesion. Here, we report an even rarer case of GBM presenting as bilateral multicystic lesions, mimicking infectious etiology. Our case highlights the importance of identifying clinical features of cystic GBM to ensure early diagnosis and treatment. A literature review was conducted in PubMed, looking at the common characteristics and treatment options for cystic GBM.

Background: Primary central nervous system lymphoma (PCNSL) is a rare, aggressive form of non-Hodgkin lymphoma contained in the brain and the spinal cord as well as the meninges, cranial nerves, eyes, and cerebrospinal fluid (CSF). Due to its variable presentation and lack of associated B-symptoms, it is quite challenging to diagnose PCNSL, if there is not a high level of suspicion.

Methods: This is a retrospective case series examining 13 human immunodeficiency virus- (HIV-) negative patients with PCNSL and DLBCL type, with a median age of 75 years old.

Results: The most common presenting symptom was altered mental status. The frontal lobes, basal ganglia, cerebellum, and corpus callosum were most affected. Prior to brain biopsy, 4/13 patients were on steroids, which did not affect biopsy results and the average time to diagnosis was 1 month. 9/13 patients who did not receive steroids had an average time to diagnosis of less than 1 month.

Conclusion: Although steroid administration did not appear to diminish the yield of the biopsy, it is a best practice to withhold steroids prior to biopsy to decrease the time to diagnose PCNSL.

We present a distinctive case of solid pseudopapillary neoplasm as seen in a 44-year-old woman who presented with an abdominal mass but unremarkable labs with no elevation in any of the tumor markers. Her symptomatology ranged from typical symptoms suggestive of malignancy such as weight loss, lethargy, and anorexia to complaints like abdominal pain and jaundice. Prior to presenting at our center, she was given no hope or much in terms of treatment options. She was found to have a substantial mass over the body and tail of pancreas with characteristic and typical gross as well as histological features. Subsequently, she underwent a successful surgery and has found herself in remission since.

Background: We describe a case report of a 67-year-old male with PDAC who experienced an exceptional survival outcome during systemic therapy and its implications in precision medicine. We hypothesize that his outcomes are attributable, in part, to a germline BRCA2 deletion and somatic GNAS substitution.

Methods: Retrospective single-patient chart review was performed at the London Regional Cancer Program, as well as a structured literature search spanning all years in PubMed of BRCA and GNAS mutations in pancreatic cancer.

Results: The case described herein represents a 67-year-old male who survived over 27 months after third-line treatment with gemcitabine, docetaxel, and capecitabine (GTX) chemotherapy for metastatic PDAC after progression on gemcitabine and Abraxane and then on FOLFIRINOX. His survival far exceeded the median overall survival metrics. Genetic testing revealed a pathogenic heterozygous germline BRCA2 6643delT p.(Tyr2215Thrfs^∗14) frameshift mutation and somatic GNAS 2531G > A p.(Arg844His) mutation.

Conclusions: This case highlights the urgent need to expand our knowledge of cancer biology to advance personalized cancer treatment and therapy development.

Primary spinal cord melanoma (PSCM) and primary pleural melanoma (PPM) are extremely rare entities with scarce cases reported in the literature. We present a case of a 54-year-old male diagnosed with possible primary pleural melanoma and primary spinal melanoma, managed with partial surgical resection, postoperative radiotherapy, and chemotherapy consisting of Ipilimumab, nivolumab, and temozolomide. This leads to decreased symptoms and improved quality of life of the patient. In this case report, we review the literature on PSCM and PPM in detail, addressing the pertinent clinical aspects as well as current and upcoming therapeutic options.