Case Reports in Oncological Medicine最新文献

Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest cancers in the United States, causing approximately 50,000 deaths annually. Among PDAC patients, those with germline BRCA1/2 mutations show a more favorable response to platinum-based chemotherapy and PARP inhibitors like olaparib. The 2019 randomized placebo-controlled double-blind Phase 3 POLO trial demonstrated olaparib's efficacy as a first-line maintenance therapy in patients with BRCA-mutated metastatic PDAC following platinum-based chemotherapy. Olaparib was subsequently approved by the FDA, EMA, and PMDA. However, this treatment approach has not been extended to other homologous recombination deficiency (HRD)-related mutations. This case report details a 72-year-old white, female patient with cogermline mutations in the ATM and BRIP1 genes, both of which are involved in DNA repair pathways, resulting in HRD. Following a diagnosis of metastatic PDAC, the patient achieved complete remission after retreatment with FOLFIRINOX and has maintained remission for over 40 months on olaparib maintenance therapy. Her ongoing remission, coupled with undetectable levels of circulating tumor DNA, supports olaparib's potential effectiveness in HRD-positive PDAC beyond BRCA mutations. This case highlights the need for expanded HRD testing and consideration of PARP inhibitor maintenance therapy for PDAC patients with HRD pathway deficiencies. Our findings advocate for further clinical studies to assess the broader applicability of PARP inhibitors in PDAC patients with HRD mutations, including ATM and BRIP1, which could enhance survival outcomes in this high-risk population. Expanding the standard of care to include PARP inhibitors for HRD-positive PDAC could address a critical gap in treatment and improve patient prognosis.

Hyalinizing clear cell carcinoma (HCCC) is a rare malignancy of the minor salivary glands, most often managed by surgical resection. We report a case of a 63-year-old woman with an unresectable base-of-tongue tumor initially presumed to be squamous cell carcinoma. Histopathologic evaluation and molecular testing ultimately confirmed HCCC with an EWSR1-ATF1 fusion. Given the tumor's extent, she was treated with definitive chemoradiation using weekly cisplatin and 70 Gy in 35 fractions. Her course was complicated by pulmonary embolism, neutropenia, and severe mucositis requiring percutaneous endoscopic gastrostomy tube placement. Post-treatment imaging showed decreased FDG avidity, and circulating tumor DNA remained negative for minimal residual disease. This case highlights the importance of molecular diagnostics in distinguishing HCCC from other clear cell neoplasms and suggests a potential role for chemoradiation in unresectable cases, though treatment-related toxicity remains a significant concern. Further investigation into systemic and targeted therapies for HCCC is warranted.

Ruxolitinib is a Janus kinase inhibitor that has been associated with lipid abnormalities, including a 15% incidence of hypertriglyceridemia. We describe a case of a 37-year-old man with refractory T-cell lymphoma treated with ruxolitinib for hemophagocytic lymphohistiocytosis (HLH). Following ruxolitinib use, the patient developed severe epigastric abdominal pain with elevated amylase, lipase, and triglycerides. This led to a suspicion of hypertriglyceridemia-induced pancreatitis requiring an insulin infusion. Unfortunately, the patient experienced multiorgan failure and expired. While ruxolitinib has been associated with hypertriglyceridemia, severe lipid abnormalities, as observed in this case, are rare. Furthermore, assessing the incidence of severe hypertriglyceridemia in the setting of HLH is challenging, given that the disease itself contributes to elevated triglyceride levels. This case highlights the need for a more vigilant approach in monitoring lipid parameters when using ruxolitinib for HLH treatment, especially among patients with concomitant risk factors.

Neoadjuvant use of immune checkpoint inhibitors (ICIs) is the new standard of care in patients with clinical stage III melanoma. However, it is associated with immune-related adverse events (irAEs). Nivolumab-relatlimab in the neoadjuvant setting is an NCCN-recommended treatment for patients with clinical stage III melanoma. Anti-LAG3 molecule comes with an increased risk of cardiac irAE, especially myocarditis. Takotsubo cardiomyopathy (TTC), a reversible decline in heart function driven by catecholamine overload, is reported as a cardiac irAE in the literature. However, the mechanism of TTC being an irAE is elusive. It is known that myocarditis and TTC share a lot of common features, although the presence of cardiac inflammation essentially rules out TTC. Here, we report the case of an elderly patient with a history of heart failure with midrange ejection fraction, diagnosed with clinical stage III melanoma, who developed shortness of breath with the first dose of neoadjuvant nivolumab-relatlimab. Cardiac magnetic resonance (CMR) imaging demonstrated a severe apical hypokinesis and no myocardial edema, suggestive of TTC. However, since myocarditis could not be ruled out, the patient was started on high-dose methylprednisolone followed by a 9-week taper of prednisone. The CMR changes reverted to baseline 44 days later, with the patient experiencing complete recovery. He underwent wide local excision of the primary melanoma and complete lymph node dissection, which showed a major pathologic response. Postoperatively, he remains on surveillance with no evidence of recurrence. This report emphasizes early recognition of cardiac irAEs and initiation of corticosteroids, which could help prevent morbid long-term complications.

Akathisia is a movement disorder primarily caused by antipsychotic medications. Although extremely rare, cases caused by immune checkpoint inhibitors or traumatic brain injury have also been reported. We report on the case of an 82-year-old patient with malignant pleural mesothelioma who developed akathisia following subdural hematoma removal and achieved successful symptom control. Three months after receiving nivolumab and ipilimumab, the patient developed incomplete paralysis of the right side of the body. Examination and medical history revealed that a subdural hematoma was the cause of the movement abnormality. Following hematoma removal, the patient became unable to sit still. We suspected the condition as akathisia secondary to traumatic brain injury. Anticholinergic medication successfully controlled the symptoms, allowing treatment for mesothelioma to resume. Neurological immune-related adverse events associated with immune checkpoint inhibitors are often difficult to resolve completely and can lead to discontinuation of cancer treatment. We hope this case report underscores the importance of carefully evaluating the pathophysiology of neurological abnormalities arising during cancer treatment.

Relapsed or refractory (r/r) classical Hodgkin lymphoma (cHL) during pregnancy is rare, and management is often complex. The following two cases of r/r cHL during pregnancy highlight management considerations and outcomes in this unique patient population. The first patient with Stage IIIB cHL achieved a complete response (CR) with ABVD (doxorubicin, bleomycin, vinblastine, and dacarbazine) prior to pregnancy but relapsed at 10 weeks of gestation. She was maintained with methylprednisolone and vinblastine with no complications until she underwent cesarean section at 34 weeks. The second patient, diagnosed with Stage IIIb cHL, achieved CR after five cycles of ABVD and one cycle of AVD. She began consolidation radiation but halted treatment after two cycles upon discovering an intrauterine twin pregnancy. At 10 weeks of gestation, she experienced a relapse of her disease. The patient received one cycle of vinblastine and methylprednisolone weekly. At 31 weeks, the patient underwent an elective cesarean section. After delivery, both patients underwent ICE (ifosfamide, carboplatin, and etoposide), followed by consolidation with autologous hematopoietic cell transplantation (auto-HCT). These cases highlight the balance needed to maintain control of disease to allow a safe and uneventful pregnancy.

Background: Oxaliplatin is an alkylating chemotherapeutic agent which is FDA-approved for colorectal cancer treatment. The most frequent neurologic complication reported with oxaliplatin is acute peripheral neuropathy. Posterior reversible encephalopathy syndrome (PRES) is another neurologic adverse effect that has been reported with oxaliplatin-based chemotherapy regimens resulting in seizures. Oxaliplatin-induced seizure in the absence of PRES is rare and has been reported in four case reports.

Case presentation: We report a case of tonic-clonic seizures after oxaliplatin administration in the absence of any other abnormal radiological or laboratory findings in a 58-year-old male diagnosed with rectal adenocarcinoma. In this case, tonic-clonic seizures occurred a few hours after oxaliplatin administration in two episodes lasting 1 min each, two and a half hours apart. The patient's vital signs, EEG, and brain MRI showed no abnormalities. The patient received levetiracetam after the seizure onset and was successfully retreated with oxaliplatin 6 months later.

Conclusion: This case highlights a rare presentation of oxaliplatin-induced seizure occurring in the absence of PRES or other identifiable metabolic, structural, or infectious causes. Notably, successful rechallenge with oxaliplatin was achieved after a prolonged seizure-free interval and under antiepileptic coverage, suggesting that rechallenging may be considered in selected patients following multidisciplinary evaluation.

Endometrial carcinoma (EC) is a heterogeneous malignancy with diverse molecular subtypes that influence prognosis and treatment response. While conventional therapies such as surgery, chemotherapy, and radiation remain the mainstay of treatment, recurrent and metastatic EC poses significant therapeutic challenges, particularly in aggressive histologic subtypes like clear cell carcinoma. Advances in genomic profiling have revealed that KRAS mutations occur in approximately 10%-30% of EC cases, with the KRAS G12C variant representing a rare but potentially targetable alteration. KRAS G12C inhibitors, including sotorasib and adagrasib, have revolutionized the treatment landscape for certain malignancies, particularly non-small cell lung cancer (NSCLC) and colorectal cancer (CRC), where they have received FDA approval. The efficacy of these agents in other KRAS G12C-mutated solid tumors remains under investigation, with limited clinical data available in endometrial cancer. To date, only three documented cases have reported responses to KRAS G12C inhibitors in EC, highlighting the need for further exploration of targeted strategies in this setting. Here, we present a unique case of a 77-year-old woman with metastatic endometrial clear cell carcinoma who exhibited a durable response to adagrasib after progressing on multiple lines of standard treatment. This case highlights the potential clinical utility of KRAS G12C inhibitors in EC and highlights the importance of molecular profiling in identifying actionable mutations that may guide treatment decisions. This report, contributing to the limited body of evidence that includes three prior cases evaluating the role of sotorasib and adagrasib across several solid malignancies, highlights the clinical and translational relevance of adagrasib in advancing precision-targeted therapy for KRAS G12C-mutated tumors.

Cancer of the male breast is a rare disease. It comprises less than 1% of all breast carcinomas and less than 1.5% of all malignant tumors in men. Male breast cancer presenting as skin metastasis is exceptionally uncommon. A review of the medical literature identified only a handful of such cases. We present a malignant axillary skin tumor with multiple visceral metastases originating from a breast primary. Although often grouped together, recent evidence indicates that male breast cancer is a distinct tumor on both genetic and molecular grounds when compared to the significantly more prevalent female breast cancer. Since new details and treatment strategies are emerging for male breast cancer, we wish to highlight a rather unusual presentation of this often-overlooked cancer. Skin metastasis is generally detected at the terminal stage of the malignancy. In our patient, however, the skin metastasis initiated the diagnostic workup.

Aim: Peutz-Jeghers syndrome is a rare genetic disease with an increased risk of gastrointestinal and extragastrointestinal malignancies. Ovarian involvement of Sertoli-Leydig cell tumors is uncommon and even more rare in Peutz-Jeghers syndrome patients. This case report outlines the importance of primary ovarian Sertoli-Leydig cell tumor with bilateral adnexal involvement in a patient diagnosed with Peutz-Jeghers syndrome.

Case: A 31-year-old female patient diagnosed with Peutz-Jeghers syndrome presented to our clinic with pelvic pain. Ultrasound examination revealed solid masses in both adnexa. Laparoscopic fertility-preserving surgery was performed. Pathology confirmed the diagnosis of poorly differentiated solid ovarian Sertoli-Leydig cell tumor. Staging surgery was performed, and finally, the patient was referred to oncology for chemotherapy.

Conclusion: This case report outlines the importance of Sertoli-Leydig cell tumors in the differential diagnosis of adnexal masses in patients with Peutz-Jeghers syndrome. Bilateral adnexal involvement is an unusual presentation of Sertoli-Leydig cell tumors. Despite unusual and different presentations, Sertoli-Leydig cell tumors should not be ignored or overlooked in patients with Peutz-Jeghers syndrome.