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.

Presumed Melanoma of Unknown Primary Origin Metastatic to the Choroid Mimics Primary Uveal Melanoma

We describe the case of a 69-year-old woman who presented with a decline in vision in the left eye and was found to have a choroidal lesion with clinical and echographic features concerning for primary uveal melanoma. Systemic imaging identified numerous metastases to the liver, kidneys, paratracheal lymph nodes, lung, and brain. The hepatic lesion was biopsied, and genetic analysis identified a Val600Glu (c.1799T&#x3e;A) <i>BRAF</i> mutation, consistent with a cutaneous primary malignancy, although no primary tumor was identified. This case highlights that metastasis to the choroid is a rare presentation of nonuveal melanoma that can mimic primary uveal melanoma. Genetic analysis of tumor tissue can identify the origin of the melanoma and guide treatment options. Systemic imaging should be performed prior to intervention for choroidal neoplasms.

Cancer of unknown primary origin presented with rapid deterioration without significant symptoms, a case report

A 34-year-old woman with flank pain was referred for suspicious lymphadenopathy. PET/CT scan revealed disseminated lesions without apparent primary origin. Although she did not complain of any symptoms, after rapid deterioration, she died of respiratory distress and cardiac arrest. Her strong beliefs contribute to symptoms tolerance and late diagnosis.

The Role of Immunohistochemistry in the Workup of Malignant Neoplasms of Unknown Primary Origin at Khartoum Oncology Hospital

Background: Carcinoma of unknown primary origin (CUP) comprises various malignancies classified by detection of tissue-specific genes through immunohistochemistry (IHC). We aimed to explore the role of available immunohistochemical markers in diagnosing and classifying malignant neoplasms of unknown primary origin.Methods: A cross-sectional study included 141 patients diagnosed histologically as CUP and referred to the Histopathology and Immunohistochemistry Department, Khartoum Oncology Hospital, from 2012 to 2017. Hematoxylin and Eosin (H&E) and immune stained slides used in the workup were reviewed and classified into the main histologic types of CUP. Data were -analyzed by SPSS. Results: Out of 4436 cases, CUP represents (3.2%). The age group (60-69) years have the highest percentage (20.13%), with male predominance (51.77%). Lymph nodes represent (41.84%) followed by the liver (12.77%), spine (3.55%), and lungs (2.13%). Adenocarcinoma (75.89%) was the most common subtype, followed by undifferentiated neoplasm (14.18%), squamous cell carcinoma (7.09%), and carcinoma with neuroendocrine differentiation (2.84%). In 70 cases (49.6%) of the study cases, the primary site was determined, (17.7%) were given an only differential diagnosis, and in (32.6%) the origin remains unknown. Conclusions: CUP cases during the study period are infrequent (3.2%), and the primary origin was determined in nearly half of patients by the available immune markers. CUP’s common histological types were adenocarcinoma, undifferentiated neoplasm, squamous cell carcinoma, and carcinoma with neuroendocrine differentiation. The most common presenting sites were lymph node, liver, spine, and lungs.

Expression of Glycolysis-Related Proteins in Cancer of Unknown Primary Origin

IntroductionCancer of unknown primary origin (CUP) is defined as metastatic cancer without identification of the primary site. Considering that only 15–20% of patients with CUP show a favorable outcome, identifying biomarkers may help improve the clinical management of patients who do not respond well to conventional therapies. In this context, the study of the metabolic profile of CUP may pave the way to establish new biomarkers and/or therapeutic targets; therefore, this study aimed to characterize the expression of metabolism-related proteins in CUP.Materials and MethodsThe expression of monocarboxylate transporters MCT1, MCT2 and MCT4, their chaperone CD147, the glucose transporter GLUT1 and the pH regulator CAIX was evaluated by immunohistochemistry in a series of 118 CUP patients, and the results were associated with the available clinicopathological information.ResultsThe metabolism-related proteins MCT1, MCT4, CD147, GLUT1 and CAIX were expressed in a critical portion of the CUP (approximately 20 to 70%). MCT1 and CD147 were both more frequently expressed in cases with lymph nodes as metastasis dominant sites (p = 0.001) as well as in samples from lymph nodes (p &lt;0.001 and p = 0.002, respectively), while MCT1 expression was more frequently expressed in squamous cell carcinomas (p = 0.045). A higher overall survival was observed in patients with tumors positive for GLUT1 and CAIX expression (p = 0.011 and p = 0.041, respectively), but none of the proteins was an independent prognostic factor for overall survival in multivariable analysis.ConclusionThe results suggest that a portion of CUPs present a hyperglycolytic phenotype, which is associated with higher overall survival.