Case Reports in Oncology

INTRODUCTION: The advent of immune checkpoint inhibitors marks significant progress in the evolution of cancer treatment. Recent clinical trials have demonstrated the success of immune-oncologic (IO) agents like pembrolizumab (Keytruda™ ) in combination with chemotherapy against triple-negative breast cancer (TNBC) [Ann Oncol. 2017 Jun 1;28(6):1388-1398]. There is less literature investigating pembrolizumab in monotherapy and in cases of rare tumor mutational burden. CASE PRESENTATION: Here, we report the case of a 65-year-old Native American and African American woman with previous incomplete lines of therapy diagnosed with recurrent TNBC and pulmonary metastases...

INTRODUCTION: Mutation in Kristin ras sarcoma virus (KRAS) oncogene is the main driver in pancreatic ductal adenocarcinoma (PDAC) and is present in nearly 90% of patients with PDAC. Epidermal growth factor receptor ( EGFR ) mutation is rare in PDAC and is mostly present in the absence of KRAS mutation. Co-occurrence of KRAS and EGFR mutations is extremely rare, and the value of EGFR inhibition in these cases is unknown. CASE PRESENTATION: Here, we present a case of metastatic PDAC with co-occurrence of KRAS G12V and EGFR L730R...

INTRODUCTION: Single distant metastases after radiofrequency ablation (RFA) of hepatocellular carcinoma (HCC) are rare. There are no guidelines for treating patients without liver tumors after resecting lung metastases. CASE PRESENTATION: Here, we report a patient with HCC recurring as a single lung metastasis 14 months after RFA. A 76-year-old woman with primary biliary cholangitis without hepatitis B virus or hepatitis C virus infection had been treated by RFA for a single 16-mm-sized HCC lesion in liver S8...

INTRODUCTION: Cadonilimab (AK104) is an innovative human programmed cell death-1 (PD-1)/cytotoxic T lymphocyte antigen-4 (CTLA-4) bispecific antibody. Compared with the combination therapy of PD-1 and CTLA-4 blockers, less cellular toxicity of cadonilimab was significantly manifested. As one of the characteristic adverse effects of cadonilimab, infusion-related reactions (IRRs) represent fever, chills, rash, decreased blood pressure, and other symptoms. CASE PRESENTATION: Here, we documented seven cases of IRRs after the administration of cadonilimab...

INTRODUCTION: Ataxia-Telangiectasia Mutated (ATM) is a cancer predisposition gene; carriers of germline pathogenic variants have an increased risk of developing malignancies, including breast, prostate, pancreatic, and ovarian cancer. Most ATM variants are of uncertain significance. Findings from genome-wide association studies (GWAS) suggest that ATM may be a low-risk melanoma susceptibility locus. CASE REPORT: We report the case of a Hispanic family whose members who have presented cutaneous melanoma have been found to be carriers for the ATM pathogenic variant c...

INTRODUCTION: Malignant melanoma most commonly occurs in the skin. Primary malignant melanoma of endometrium is quite rare. Its diagnosis depends on clinical characteristics and pathological examination. It usually exhibits high degree of tumor histology, early onset of distant metastases, and unfavorable prognoses. CASE PRESENTATION: In this paper, we report a case of a 73-year-old woman with primary malignant melanoma of endometrium. This patient denied a history of nevus removal or any family medical history of cancer...

INTRODUCTION: Adrenocortical carcinoma (ACC) is an extremely rare and aggressive tumor, and its clinical characteristics are poorly defined because of its rarity. CASE PRESENTATION: We report a 64-year-old man who presented with upper abdominal pain and weight loss. Computed tomography revealed a 15 cm left adrenal tumor compressing the pancreas ventrally and a tumor thrombus in the inferior vena cava (IVC) originating from the left renal vein. Positron emission tomography-computed tomography revealed 18 F-fluorodeoxyglucose uptake only in the tumor and tumor thrombus, and radical surgery was planned...

INTRODUCTION: Rarely solitary sternum metastases are addressed by resection. Two additional cases are presented as they are interesting because of their long-term follow-up. CASE PRESENTATION: Case 1: A renal cell carcinoma was treated by transabdominal nephrectomy at age 64. Right iliac bone and sternum metastases were diagnosed 7 months later and treated by internal hemipelvectomy followed by sternum metastasectomy 6 weeks after the internal hemipelvectomy. At 12-year follow-up, the patient appears disease free...

INTRODUCTION: Acquired angioedema due to C1 esterase inhibitor deficiency (C1INH-AAE) is most associated with lymphoproliferative disorders (LPDs), particularly low-grade B-cell subtypes. The condition remains under-recognized with long diagnostic delays due to various challenges including a lack of awareness of the condition. CASE PRESENTATION: We discuss 4 cases of C1INH-AAE associated with low-grade B-cell LPDs, including various diagnostic and management challenges...

INTRODUCTION: Breast cancer exhibits vast genomic diversity, leading to varied clinical manifestations. Integrating molecular subtyping with in-depth genomic profiling is pivotal for informed treatment choices and prognostic insights. Whole-genome clinical analysis provides a holistic view of genome-wide variations, capturing structural changes and affirming tumor suppressor gene loss of heterozygosity. CASE PRESENTATION: Here we detail four unique breast cancer cases from Seoul St...

INTRODUCTION: Diffuse leptomeningeal glioneuronal tumor (DLGNT), a new addition to the 2016 World Health Organization (WHO) classification, is a rare childhood neoplasm presenting with disseminated leptomeningeal enhancement and an occasional intraparenchymal mass. Diagnosis is often impeded by infectious/immunological differentials, necessitating a biopsy to confirm the diagnosis. We report an adult male with DLGNT without hydrocephalus, which is rare in patients with cerebellar masses...

INTRODUCTION: Pleomorphic rhabdomyosarcoma is a rare subtype of rhabdomyosarcoma, a soft tissue sarcoma with skeletal muscle differentiation. Although rhabdomyosarcoma is typically seen in the pediatric population, the pleomorphic variant most frequently presents in adulthood and is characteristically aggressive with no currently established treatment regimen in the setting of metastatic disease. There has been growing interest in the application of immune checkpoint inhibitors alongside conventional chemotherapeutic agents in the treatment of pleomorphic rhabdomyosarcoma...

INTRODUCTION: Primary tracheal adenoid cystic carcinoma (TACC) is a rare low-grade lung cancer of bronchial gland origin. Surgery is the first choice of treatment; however, in cases of recurrence or inoperability, a combination of radiation and chemotherapy is administered as a multimodality treatment. Interventional bronchoscopy is also used as a multidisciplinary treatment; however, its impact on long-term prognosis has not been thoroughly investigated. CASE PRESENTATION: Eight patients diagnosed with TACC and treated at Shinshu University Hospital between December 2000 and August 2023 were analyzed retrospectively...

INTRODUCTION: Lenvatinib and Pembrolizumab together are used as a chemotherapy regimen for patients with metastatic endometrial carcinoma. Lenvatinib is a vascular endothelial growth factor (VEGF) receptor inhibitor, fibroblast growth factor inhibitor and an inhibitor that acts on platelet derived growth factor receptor alpha, ret oncogene and c-KIT oncogene. Pembrolizumab is an immune checkpoint inhibitor that acts against programmed-death one (PD-1) receptors and programmed-death ligand one (PD-L1) receptors...

INTRODUCTION: Skin ulcers can be challenging to diagnose and manage, particularly with comorbid autoimmune and gastrointestinal diseases. Occam's razor encourages the simplest explanation to guide care, but reconsideration must occur when intervention proves futile. CASE PRESENTATION: We report the case of a 70-year-old male, with a 17-year history of expanding pretibial skin ulcer, presumed by prior care providers to be pyoderma gangrenosum related to Crohn's disease...

INTRODUCTION: Pulmonary tumor thrombotic microangiopathy (PTTM) is a rare complication of metastatic carcinoma, which occurs in patients with pulmonary arterial hypertension, and is mostly fatal. Circulating tumor cell clusters have been recognized as critical factors during breast cancer progression. CASE PRESENTATION: An 80-year-old woman with triple-negative breast cancer was admitted to our hospital with progressive dyspnea and lower back pain. Breast cancer treatment included mastectomy, neoadjuvant and adjuvant chemotherapy as well as adjuvant radiotherapy, receiving her last cycle of radiotherapy 8 days before death...

INTRODUCTION: Multiple myeloma (MM) is a clonal neoplasm of plasma cells that may manifest as an extramedullary disease in rare cases. CASE REPORT: In this case report, we present the rare occurrence of testicular relapse in a 39-year-old patient with IgA MM after 3 years of remission. We discuss the clinical course and management of this unusual presentation and provide a comprehensive literature review of testicular involvement by MM. CONCLUSION: Despite advances in MM treatment, relapse remains common, highlighting the importance of careful follow-up and timely detection of disease recurrence at atypical sites...

INTRODUCTION: Parathyroid carcinoma is a rare malignant endocrine tumor that is usually associated with primary hyperparathyroidism. The coexistence of parathyroid carcinoma and renal hyperparathyroidism is a rare phenomenon. Hence, we present a case of parathyroid carcinoma in a patient with tertiary hyperparathyroidism. CASE PRESENTATION: Our patient is a 31-year-old woman with a past medical history of end-stage renal failure (ESRF), on hemodialysis for the past 18 years...

INTRODUCTION: Nausea and vomiting are frequent multifactorial symptoms in oncological patients. These manifestations, mainly affecting the advanced disease stages, may lead to existential, psychological, and physical suffering, with a negative impact on the quality of life (QoL) of the individual and his family. The medical approach makes use of a wide range of drugs, with different antiemetic potency and various mechanisms of action, taking into account the etiology and the patient's response to the different therapeutic strategies...

INTRODUCTION: Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) is a rare subtype of T-cell leukemia that phenotypically expresses mature T-cell markers and immature myeloid markers such as CD33. Gemtuzumab ozogamicin (GO) is a novel agent for the CD33 molecular targeting antibody conjugated to the cytotoxic agent calicheamicin. GO is anticipated to be effective against ETP-ALL. In vivo studies promise antileukemic effects in cell lines; however, clinical reports to support this research are lacking...