Nationwide Survey on Family-perceived Experiences of Patients With Cancer of Unknown Primary Site

Purpose: Cancer of unknown primary site (CUP) is an aggressive disease with poor prognosis. As research on the experiences of CUP patients and their families is scarce, this study aimed to compare the family-perceived burden of CUP with that of common cancers (lung, colon, and stomach cancer). Additional aims were to explore the association between family-perceived burden and CUP patients’ quality of life (QOL) at end-of-life and family depression.Methods: This was a pre-planned secondary analysis of nationwide cross-sectional survey data from the bereaved family members of patients with cancer who died at 286 institutions. The major measurements were the eight-item family-perceived Burden scale (comprising specialist access, uncertainty, and prolonged diagnosis), Good Death Inventory, and Patient Health Questionnaire 9.Results: Of the total 27,591 survey responses, we analyzed 97 and 717 responses from the family members of patients with CUP and common cancer, respectively. The families of CUP patients scored significantly higher on all three burden subscales than those of common cancer patients (effect sizes: specialist access subscale, 0.3; uncertainty subscale, 0.66; and prolonged diagnosis subscale, 0.69; adjusted P < 0.01). Greater family Burden was significantly associated with lower patient QOL and higher family depression. Burden was significantly associated with being a spouse, second opinion consultation, and diagnosis period of >1 month.Conclusion: The families of CUP patients experience poor specialist access, greater uncertainty, and a prolonged diagnosis. They should be cared for from the initial stages to establish access to specialists, obtain an early diagnosis, and reduce uncertainty.

Hemorrhagic Brain Metastases: A Diagnostic Dilemma and Diagnosis of Exclusion

Pleomorphic carcinoma is a malignant and aggressive primary lung carcinoma that occurs at a rate of approximately 0.3%. This rarely encountered tumor may present a diagnostic challenge to neuroradiologists and pathologists, as it has propensity to present as hemorrhagic brain metastasis with unknown primary and result in delay in diagnosis that could impact clinical outcome. Herein, we report a unique case in its presentation in a 56-year-old female, having symptomatic brain metastasis prior to the discovery of the pulmonary lesion.

Detection of Ureteral Stump Transitional Cell Carcinoma, Presenting as Bone Metastases from Unknown Primary by 18F-FDG PET/CT: A Case Report with Review of Literature

A case of occult carcinoma of the ureteral stump is reported. A 67-year-old man presented with pain syndrome due to multiple bone metastases from unknown primary origin detected by previous imaging studies as magnetic resonance imaging, whole body contrast-enhanced computed tomography (CT), and technetium-99m methyldiphosphonate bone scan. He had undergone a right nephrectomy for a benign disease previously. He was referred to our department for an 18F-fluoro-2-deoxy-D-glucose (18F-FDG) positron emission tomography/computed tomography (PET/CT) to help localize possible primary tumor. Our observations in this case show that the use of 18F-FDG PET/CT successfully and more accurately evaluated the overall tumor burden and led to a rapid decision of an adequate therapeutic approach.

Pan-Cancer DNA Methylation Analysis and Tumor Origin Identification of Carcinoma of Unknown Primary Site Based on Multi-Omics

The metastatic cancer of unknown primary (CUP) sites remains a leading cause of cancer death with few therapeutic options. The aberrant DNA methylation (DNAm) is the most important risk factor for cancer, which has certain tissue specificity. However, how DNAm alterations in tumors differ among the regulatory network of multi-omics remains largely unexplored. Therefore, there is room for improvement in our accuracy in the prediction of tumor origin sites and a need for better understanding of the underlying mechanisms. In our study, an integrative analysis based on multi-omics data and molecular regulatory network uncovered genome-wide methylation mechanism and identified 23 epi-driver genes. Apart from the promoter region, we also found that the aberrant methylation within the gene body or intergenic region was significantly associated with gene expression. Significant enrichment analysis of the epi-driver genes indicated that these genes were highly related to cellular mechanisms of tumorigenesis, including T-cell differentiation, cell proliferation, and signal transduction. Based on the ensemble algorithm, six CpG sites located in five epi-driver genes were selected to construct a tissue-specific classifier with a better accuracy (&gt;95%) using TCGA datasets. In the independent datasets and the metastatic cancer datasets from GEO, the accuracy of distinguishing tumor subtypes or original sites was more than 90%, showing better robustness and stability. In summary, the integration analysis of large-scale omics data revealed complex regulation of DNAm across various cancer types and identified the epi-driver genes participating in tumorigenesis. Based on the aberrant methylation status located in epi-driver genes, a classifier that provided the highest accuracy in tracing back to the primary sites of metastatic cancer was established. Our study provides a comprehensive and multi-omics view of DNAm-associated changes across cancer types and has potential for clinical application.

The F-18 FDG PET/CT evaluation of the metastatic adrenal lesions of the non-lung cancer tumors compared with pathology results

Background The aim of this study was to evaluate the role of F-18 FDG PET/CT imaging in the diagnosis of primary and metastatic adrenal tumors that originate from non-lung cancer primary tumors. Results F-18 FDG PET/CT images of patients (8 male and 6 female; mean: 55.36 ± 16.2 years old) who attended with the diagnosis of primary or adrenal metastatic lesions other than lung cancer metastasis were evaluated in a retrospective manner. The diameter of the adrenal lesions was mean: 23.93 ± 36.6 mm with SUVmax levels of mean: 9.98 ± 7.8. The primary site of 2/3 of the patients with unknown primary was the adrenal gland, and in one of the patients primary tumor remained unknown during follow-up. Conclusions According to the results of this study, F-18 FDG PET/CT has high diagnostic performance in the diagnosis of the adrenal gland primary and metastatic lesions, which originate from non-lung cancer tumors. Further studies in the larger series are warranted.

A Case of Metastatic CNS Melanoma of Unknown Primary Presenting with Seizures

Seizures are a common occurrence. The goal of evaluating a seizure is to identify the etiology and to determine the likelihood of recurrence as well as guide management. We present a unique presentation of a 47-year-old female that presented with late onset seizures admitted due to status epilepticus. Brain magnetic resonance indicated diffuse supratentorial hemorrhagic lesions. Neurological workup including brain vessel imaging, CT chest, abdomen, and pelvis as well as CSF and serological workup for vasculitis failed to demonstrate the cause of her brain lesions. Ultimately, a brain biopsy showed metastatic melanoma of unknown primary origin.