Case Reports in Oncological Medicine最新文献

Background: Recurrent endometrial cancer after definitive therapy is a lethal disease. Recently, immune checkpoint inhibitors (ICI) have improved the management of mismatch repair-deficient (MSI-H) endometrial cancer. Autoimmune side effects are known to occur with ICI. As a result, patients with preexisting autoimmune diseases are excluded from studies involving these drugs. This has led to challenges in clinical practice regarding the use of ICI in otherwise eligible patients with underlying autoimmune disease. Case Presentation. We present the case of an 81-year-old woman with an underlying autoimmune vasculitis and recurrent, metastatic endometrial adenocarcinoma with microsatellite instability, who was treated with an immune checkpoint inhibitor. This patient received pembrolizumab, an immune checkpoint inhibitor that targets the programmed cell death-1 immune checkpoint. Ultimately, she was treated for 4 months with pembrolizumab and benefited from stable disease during this period. She remained asymptomatic from her underlying autoimmune P-ANCA vasculitis. A review of the scientific literature reveals several cases of the successful use of immune checkpoint inhibitors in patients with autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis, and inflammatory bowel disease.

Conclusion: This is one of the first reports of a patient with an underlying autoimmune vasculitis successfully treated with an immune checkpoint inhibitor without exacerbating her underlying autoimmune condition. Carefully selected patients with underlying autoimmune vasculitis can be safely treated with ICI.

Immune checkpoint inhibitors are the most important new medications in oncology and include inhibitors of programmed cell death protein-1 (PD-1) such as Pembrolizumab, Nivolumab, and Cemiplimab. These anticancer agents prevent tumour immune evasion and have been associated with a range of immune-related adverse events (irAEs) including those involving the nervous system. In this case report and literature review, we present the first case of inflammatory myeloradiculitis secondary to Pembrolizumab. We also summarise the characteristics, treatment, and outcomes of other cases reported in the literature which include a component of myelitis. Finally, we make general recommendations on management.

Syringocystadenocarcinoma papilliferum (SCACP) is an extremely rare cutaneous neoplasm of the apocrine or eccrine sweat glands. Solid and cystic glandular structures with cribriform and tubular architecture along with CK5/6, pankeratin and p63 immuno-profile set apart SCACP from other cutaneous malignancies. Wide local excision (WLE) has been the mainstay treatment for localized SCACP; however, no standard treatment has yet been established for unresectable or metastatic disease. Herein, we report a 74-year-old male with SCACP, who initially presented with a painful nodule on the upper back and later developed metastatic disease. He was treated with carboplatin and paclitaxel with concurrent intensity-modulated radiation therapy (IMRT), which resulted in disease stabilization for 12 months. Next generation sequencing (NGS) revealed a total of 18 genomic alterations associated with potential benefit from targeted therapeutics. PD-L1 expression was identified in 70% of tumor cells. These findings suggest that the opportunity of targeted therapeutics and immunotherapy exist as for metastatic SCACP. Reporting molecular profile of the rare tumors with no established standard treatment options should be encouraged.

Background: While pituitary tumors are well understood, little research has been done on metastasis from primary tumors into pituitary adenomas, also known as composite tumors. Because only 34 cases of composite tumors have been reported to date, we hope to better characterize these tumors by reviewing cases reported in the literature and reviewed our own documented case, which includes next-generation sequencing. Case Presentation. A 74-year-old man presented to the emergency department with left vision loss for 3 months. He had a history of colon cancer treated with colectomy and clear cell renal carcinoma treated with left nephrectomy. A preoperative MRI demonstrated growth of a peripherally enhancing, centrally necrotic mass with sellar expansion measuring 5.7 × 3.1 × 3.0 cm. Given these findings, an endoscopic endonasal transsphenoidal resection was performed. Histological assessment revealed a composite tumor: one neoplasm was a nonfunctioning pituitary adenoma, and another neoplasm was a clear cell carcinoma. Next-generation sequencing demonstrated that the tumors shared mutations in VHL and Notch2. The patient died 2 months later from systemic metastatic cancer.

Conclusion: From our literature review, most metastatic lesions in these composite tumors originated from neoplasms of the lung and kidney. Approximately 63% patients presented with ophthalmoplegia as the initial symptom while 23% displayed hormonal abnormalities. Postoperative mortality had a median of 3.5 months. In our patient, the presence of VHL and Notch2 mutations in both tumors highlights the possibility of using next-generation sequencing to help identify therapeutic targets even in complex composite neoplasms.

5-Fluorouracil (5-FU) is a chemotherapeutic agent frequently used for the treatment of solid tumors. In a few cases, 5-FU can be associated with coronary vasospasm, cardiac ischemia, or life-threatening arrhythmias. Recognition of 5-FU cardiotoxicity is clinically important as after the rapid sensation of therapy, cardiotoxicity can be completely reversible, and on the other hand, readministration may lead to serious damage of the heart and even death. A 70-year-old male came to the emergency department (ED) with chest pain which started while receiving an infusion of 5-FU. The patient did not have a personal history or risk factors of coronary artery disease and his electrocardiogram (ECG) before starting chemotherapy was completely normal. In the ED, his ECG had ischemic changes, troponin was elevated, and echocardiogram showed anterior wall hypokinesis. However, emergent coronary angiogram did not reveal any acute coronary occlusion. 5-FU-induced cardiotoxicity was suspected; the patient was admitted to a progressive care unit for close monitoring and infusion of calcium channel blockers was initiated. The patient's symptoms and ECG findings gradually resolved, and two days later on discharge, patient was chest pain free and ECG was normal. This case supports the vasospastic hypothesis of 5-FU cardiac toxicity, describes its clinical course, and emphasizes the importance of better awareness and early recognition of the rare side effect as it may allow physicians to reduce the risk of life-threatening complications.

Inflammatory myofibroblastic tumor (IMT) is a rare entity of neoplastic origin. It usually occurs in children and adolescents and most commonly involves pulmonary and gastrointestinal sites. Here, the authors present two cases; one is the nine months old boy with a subcutaneous IMT in the left temporal region that was treated successfully with surgical resection. To the best of our knowledge, this is the first reported case of a subcutaneous IMT in this particular region. The second is an eight years old girl with an IMT of the right hemi-pelvis. The mass had complete surgical excision with clear margins and no residual disease. She was kept on regular follow-up with ultrasound abdomen. However, her disease relapsed with the appearance of lesions in right iliac fossa, right ovary, and liver. Biopsy of the relapsed abdominal mass confirmed ALK-positive IMT. She was treated with ALK inhibitor Crizotinib. She was monitored with regular blood complete picture, hepatic and renal function test, and ultrasound abdomen. Her lesions started regressing within one month, and she achieved complete remission after 6 months of treatment.

Purpose: To report a case of corneal perforation, in a patient with a history of herpetic keratitis, during combination chemotherapy including cetuximab.

Case: We report the case of a 71-year-old man who was diagnosed with a hypopharyngeal carcinoma and received radiation therapy combined with cetuximab, the epidermal growth factor receptor (EGFR) inhibitor monoclonal antibody. He was referred to us because of ocular hyperemia and corneal perforation in his left eye. In spite of conservative therapy, his corneal perforation was exacerbated, with iris incarceration into the wound site and exposure to the surface of the cornea. He therefore discontinued treatment with the combination chemotherapy and underwent lamellar keratoplasty using a preserved donor cornea. After treatment with cetuximab resumed, there was no recurrence of the corneal perforation.

Conclusion: We have presented the first case of cetuximab-related corneal perforation in a patient who had a history of recurrent herpetic keratitis. EGFR inhibitors, such as cetuximab, can induce corneal perforation in cases with a history of herpetic stromal keratitis.

Malignant gastrointestinal neuroectodermal tumor (GNET) is a rare disease with a handful of cases described in literature. GNET has only become a well-known/widely accepted entity in the recent years, but it is still not listed in the database of rare diseases. Due to the rarity of disease, there are no guidelines on standard therapeutic approaches in the adjuvant or metastatic setting. Here, we describe a unique case of GNET with a 7-year disease-free survival following adjuvant cisplatin and etoposide chemotherapy. This is the longest disease-free survival that has ever been described in literature and may support using this combination in a larger cohort of patients in the context of a global clinical trial. We will also review the histopathologic features of GNET and potential therapeutic options in the metastatic setting.

According to the World Health Organization, medulloepithelioma belongs to the embryonal neoplasm entity. It is a very rare, highly malignant tumor typically affecting infants and young children. Usually, the tumor arises in the eye or in the central nervous system; a peripheral location has been rarely reported without an established treatment. The recognition and separation of this neoplasm from other differential tumors are mandatory for better understanding of its biology and determination of optimal treatment. This paper reports a case of an ectopic intrapelvic medulloepithelioma with liver metastasis in a 3-year-old girl.