Case Reports in Oncology最新文献

Introduction: Myasthenia gravis (MG) is a neuromuscular autoimmune disorder, commonly associated with thymomas in the context of paraneoplastic syndromes. There are limited reports describing MG in the setting of non-thymic malignancies. Mucoepidermoid carcinoma (MEC), a malignancy of the salivary glands, has been underrecognized as a trigger for paraneoplastic MG. We present a case of a woman with new-onset MG and concurrent MEC of the left masticator space, representing a rare instance of paraneoplastic MG.

Case presentation: A 24-year-old woman presented with a 9-month history of left-sided hemifacial twitching and facial and neck weakness, which progressed to drooling and dysphagia. Examination was notable for bilateral ptosis and fatigable weakness of bulbar and proximal limb muscles. During hospitalization, she developed worsening respiratory insufficiency, necessitating intubation for airway protection. Given concern for myasthenic crisis, empiric plasma exchange was initiated, with significant clinical improvement. Computerized tomography (CT) imaging of the neck revealed a mass within the left masticator space, and core needle biopsy established the diagnosis of MEC. Chest CT demonstrated no evidence of thymoma. Serologic evaluation revealed positive acetylcholine receptor binding and blocking antibodies, confirming a diagnosis of MG.

Conclusion: The temporal relationship between MG symptoms and tumor discovery supports a paraneoplastic etiology in this patient. The occurrence of MG associated with non-thymic malignancies - particularly head and neck cancers - has only been reported twice. In MEC, the tumor may express antigens similar to those found in the neuromuscular junction in a process known as molecular mimicry. The immune system, in its attempt to target the tumor, inadvertently generates autoantibodies against these neuromuscular junction proteins, leading to the symptoms of MG. Whether resection of the tumor will lead to resolution of MG remains uncertain. Although no direct pathogenic link has been established between MEC and MG, this case suggests a need for increased clinical awareness and further investigation.

Background: HER2-positive breast cancer is generally correlated with poor prognosis, whereas it demonstrates a favorable response to HER2-targeted therapies. Typically, HER2-positive tumors present as solid masses, while cystic features are exceedingly rare.

Case presentation: We present a case of a 37-year-old female with imaging findings of a large cystic mass (9.9 × 1.8 cm) in the left breast. Pathological examination confirmed grade III invasive carcinoma of no special type with HER2 positivity and HR positivity, low tumor-infiltrating lymphocytes (TILs, 5%), and high PD-L1 expression (CPS = 25%). The patient underwent a modified radical mastectomy with axillary lymph node dissection, revealing metastasis in 7 of 15 lymph nodes and the presence of lymphovascular invasion. Adjuvant therapy with the TCbHP regimen (docetaxel, carboplatin, pertuzumab, and trastuzumab) was initiated, with a total of six cycles planned, followed by maintenance therapy with trastuzumab and pertuzumab (HP) for 1 year. To date, the patient has tolerated the treatment well without evidence of distant recurrence or metastasis.

Conclusion: This case underscores the discordance between radiological and pathological findings in breast cancer, highlighting the clinical significance of low TILs and high PD-L1 expression in HER2-positive tumors, and emphasizes the importance of individualized surgical and adjuvant treatment strategies.

Introduction: There have been few reports of the efficacy of palliative radiotherapy (RT) for liver metastases of Merkel cell carcinoma (MCC). A case of a patient with gastrointestinal symptoms and liver dysfunction caused by multiple liver metastases of MCC is presented. Palliative RT improved the symptoms and liver function, enabling the continuation of systemic therapy.

Case presentation: A 66-year-old woman presented with metastatic MCC. Palliative RT (20 Gy in 5 fractions) was administered to the metastases extending from thoracic vertebra 11 to lumbar vertebra 1, and metastases in the left lobe of the liver were unintentionally partially included in the irradiation field. After palliative RT, avelumab therapy was initiated, but she complained of nausea and loss of appetite. Subsequent evaluations showed liver dysfunction and rapid progression of liver metastases. Palliative RT (20 Gy in 5 fractions) was administered to the right lobe of the liver, avoiding overlap with the previously irradiated area. Two weeks after RT, the patient showed significant improvement in the symptoms and liver function. The patient experienced no significant adverse events. She continued avelumab treatment, but she died 2 months after palliative RT to the right lobe of the liver due to progression of the MCC.

Conclusion: Palliative RT should be considered a treatment option for patients with MCC who develop symptomatic liver metastases.

Introduction: Tumor-informed minimal residual disease (MRD) monitoring assays based on plasma circulating tumor DNA (ctDNA) are increasingly integrated into the clinical management of patients with cancer. In the post-surgical curative intent setting and as an adjunct to radiographic imaging for response assessment and surveillance, timely identification of MRD may better guide therapeutic decision-making. The increasing clinical adoption of MRD testing, supported by a growing body of evidence demonstrating its potential utility at critical decision points across diverse tumor histology, has brought attention to the variability in the analytical performance of available ctDNA assays. This variability is becoming increasingly appreciated as a key factor influencing clinical performance.

Case presentations: Here we report a case series in breast and rectal cancer involving treatment monitoring with a novel advanced MRD assay, illustrating its ability to identify subclinical metastasis and disease resolution below the validated limit of detection of a commercially available ctDNA assay in these cases.

Conclusion: Results aided medical decision-making and underscored the need for highly sensitive assays in MRD detection. The differences in sensitivity, driven primarily by analytical variables, highlight the importance of selecting an assay that is not only analytically robust but also appropriately matched to the patient's specific clinical context, to help ensure optimal utility and minimize the risk of misinterpretation.

Introduction: Myelodysplastic neoplasms (MDS) with biallelic TP53 mutations (MDS-biTP53) represent a rare and aggressive MDS subtype associated with a poor prognosis. The 5th edition of the WHO classification defines MDS-biTP53 as a high-risk entity with rapid progression to acute myeloid leukemia (AML).

Case presentation: A 69-year-old male presented with fatigue, pancytopenia, splenomegaly, fever, and elevated lactate dehydrogenase. Initial bone marrow smear revealed 10.5% plasma cell-like abnormal cells, leading to a suspected diagnosis of multiple myeloma. However, further bone marrow biopsy, immunophenotype, and next-generation sequencing confirmed the diagnosis of MDS-biTP53 with myelofibrosis and megakaryocytic differentiation, as evidenced by strong CD42b expression. Despite treatment with azacitidine, lenalidomide, and erythropoietin, the patient rapidly progressed to AML.

Conclusion: This case highlights the diagnostic challenges in differentiating MDS-biTP53 with CD42b-positive blasts from plasmablastic neoplasms. The presence of myelofibrosis and CD42b expression raises important questions regarding the biological role of megakaryocytic differentiation in MDS progression and potential implications for disease transformation.

Introduction: Small cell carcinoma of the esophagus (SCCE) is an uncommon tumor characterized by frequent recurrence, metastasis, and dismal prognosis. Due to its rare nature, optimal treatment is extremely scarce and randomized studies are not available and are unlikely to be conducted. It has been recognized that high-dose fractionated radiotherapy combined with immunotherapy can induce abscopal effect, which is termed and observed as an immune response leading to an antitumoral effect also distant from the irradiated area in patients undergoing radiotherapy and finally will shed new light on the treatment of this rare tumor.

Case presentation: We report a male patient with SCCE. Despite aggressive management including surgery and salvage therapies, the patient experienced multiple recurrences within the first 2 years postoperatively. However, through vigilant surveillance facilitating early recurrence detection and prompt intervention - notably stereotactic body radiotherapy (SBRT) combined with immunotherapy - a potential abscopal effect was observed. Remarkably, the patient achieved a durable complete remission and long-term survival, remaining alive with minimal complications at 61 months post-diagnosis and continuing follow-up.

Conclusion: The exceptional long-term progression-free survival of 61 months achieved in this SCCE patient may be attributed to the abscopal effect, hypothesized to have been induced by the synergistic combination of SBRT and immunotherapy.

Introduction: Lateral cutaneous nerve neuralgia (LCNN), clinically characterized by burning sensation, cold sensitivity, deep muscle achiness, tingling, numbness, localized anesthesia, and hair loss in the anterolateral thigh. However, LCNN is rarely associated with cutaneous manifestations, and significant LCNN-associated dermatitis has not previously been reported.

Case presentation: Here, we present a case of dermatitis occurring in a region affected by LCNN following melanoma treatment. The patient achieved complete resolution of cutaneous lesions and partial improvement of neurological symptoms after 1 month of treatment with oral mecobalamin and neurotropin, combined with topical glucocorticoid therapy.

Conclusion: This presentation may represent a rare immune-related adverse event associated with PD-1 inhibitor therapy.

Introduction: Breast cancer (BC) is the most common cancer among women worldwide. While metastases typically affect the lungs, liver, and bones, spread to the paranasal sinuses, especially the sphenoid sinus, is extremely rare.

Case report: A 57-year-old woman with a history of infiltrative ductal carcinoma of the breast diagnosed 12 years earlier presented with progressive left-sided vision blurring and headaches for 3 weeks. Imaging revealed a heterogeneous lesion in the left sphenoid sinus compressing the optic nerve. The metastatic breast carcinoma with histopathological and immunohistochemical profiles matching the primary tumour was confirmed by biopsy. Because of the lesion's unresectable nature and additional metastases to the bones and lungs, palliative treatment was initiated, consisting of intensity-modulated radiation therapy and systemic therapy with abemaciclib and letrozole. After treatment, the patient's vision improved, and follow-up imaging showed reduced lesion size.

Conclusion: Metastasis of BC in the sphenoid sinus is rare; it can occur even after a prolonged remission period. This case highlights the need for maintaining a high index of suspicion in patients with a history of malignancy who present with unusual orbital or sinonasal symptoms. Early diagnosis prior to the multidisciplinary treatment approach can help to improve patient outcome.

Introduction: Chronic lymphocytic leukemia (CLL) is an incurable lymphoproliferative disorder characterized by the accumulation of mature malignant B cells in the blood, bone marrow, and secondary lymphoid tissues. While it has a heterogenous clinical course, individuals with CLL are at increased risk for autoimmune complications, infections, and secondary non-hematologic secondary malignancies. Peripheral autoimmune cytopenias are a well-known phenomenon in CLL. However, other autoimmune complications, including immune thrombotic thrombocytopenic purpura (TTP), are rare and less investigated. We hereby report the first case of a patient with TTP triggered by CLL.

Case presentation: A 74-year-old male presented with fatigue, cough, left upper quadrant abdominal pain, and diffuse petechiae over the proceeding several weeks. The initial laboratory work was suggestive of anemia and thrombocytopenia with hemoglobin of 9.4 g/dL and platelets at 6 × 10⁹/L. He was initially started on corticosteroids and intravenous immunoglobulin. Additional laboratory studies revealed a microangiopathic hemolytic with lactate dehydrogenase 1,124 U/L; total bilirubin 3.9; haptoglobin undetectable. The direct Coombs test was negative, and review of peripheral smear showed 5-6 schistocytes per high power field. Leukocyte count 15.6 × 10⁹/L with absolute lymphocyte count of 4.0 K/µL. ADAMTS13 activity was <9%. A diagnosis of TTP was made, and he was initiated on directed therapy. A bone marrow biopsy was ultimately performed, given the concern of immune-mediated- or disease-related cytopenias, and for confirmation of CLL. Subsequent bone marrow biopsy and flow cytometry confirmed the diagnosis of CLL.

Conclusion: Our case illustrates the first case of TTP precipitated by CLL. This case highlights the immune dysregulation underlying CLL and the autoimmune phenomena that may develop as a result.

Introduction: Kounis syndrome (KS) is a rare and often underdiagnosed condition characterized by acute coronary syndromes triggered by allergic or anaphylactic reactions. This syndrome is particularly relevant in the context of immunotherapy, where immune checkpoint inhibitors (ICIs) such as atezolizumab are increasingly used in the treatment of advanced cancers. While atezolizumab is generally well-tolerated, immune-related adverse events, including cardiovascular toxicity, have been reported. Understanding the potential for ICIs to induce severe complications like KS is essential for ensuring patient safety and effective management.

Case presentation: A smoker in their 70s with metastatic lung adenocarcinoma experienced an anaphylactic reaction during the second cycle of atezolizumab. The reaction was accompanied by chest tightness and elevated troponin T levels. Echocardiographic evaluation revealed severe dilatation of the left ventricular apex and a significantly reduced left ventricular ejection fraction. Coronary angiography excluded significant coronary stenosis but confirmed apical ballooning, consistent with the type I variant of KS. This diagnosis underscores the potential for immune-related cardiovascular events associated with ICIs to mimic acute coronary syndromes, challenging clinicians to distinguish between immune-mediated effects and primary cardiac conditions.

Conclusions: This case highlights the importance of recognizing KS as a potential differential diagnosis in patients undergoing immunotherapy who present with acute coronary symptoms. The findings suggest that atezolizumab may trigger severe immune-related cardiovascular toxicity, emphasizing the need for vigilance among clinicians. Further research is warranted to elucidate the mechanisms linking ICIs to KS and to develop effective management and preventive strategies. Early recognition and prompt intervention are critical to mitigating risks and improving outcomes for patients receiving ICIs.