Aim: Glioblastoma multiforme (GBM) carries a dismal prognosis. Integrated proteogenomic analysis was performed to understand GBM pathophysiology. Patients & methods: 17 patient samples were analyzed for driver mutations, oncogenes, major pathway alterations and molecular changes at gene and protein level. Clinical, treatment and survival data were collected. Results: Significantly mutated genes included TP53, EGFR, PIK3R1, PTEN, NF1, RET and STAG2. EGFR mutations noted included EGFRvIII-expression, EGFR- L816Q missense mutation-exon 21 and EGFR fusion (FGFR3-TACC3). TP53 mutations were noticed in COSMIC hot-spot driver gene and accompany IDH1 and ATRX mutations suggesting low- to high-grade glioma transformation. Proteomics showed higher (53%) EGFR expression than genomic expression (23%). MGMT methylation was present in two-thirds of cases. Conclusion: This study identifies a distinct biological process that may characterize each GBM differently. Proteogenomic data identify potential therapeutic targets of GBM.
Multiple treatment options with different mechanisms of action are currently available for the management of metastatic prostate cancer. However, the optimal use of these therapies—specifically, the sequencing of therapies—is not well defined. In order to obtain the best clinical outcomes, patients need to be treated with the therapies that are most likely to provide benefit and avoid toxic therapies that are unlikely to be effective. Ideally, predictive biomarkers that allow for the selection of the therapies most likely to be of benefit would be employed for each treatment decision. In practice, biomarkers including tumor molecular sequencing, circulating tumor DNA, circulating tumor cell enumeration and androgen receptor characteristics, and tumor cell surface expression (PSMA), all may have a role in therapy selection. In this review, we define the established prognostic and predictive biomarkers for therapy in advanced prostate cancer and explore emerging biomarkers.
Hepatocellular carcinoma (HCC) is one of the most common malignant tumors. Tumor thrombus formation in advanced HCC stages is common and usually involves the hepatic or portal veins. The formation of tumor thrombus is considered a poor prognostic factor. Herein, we report a rare case wherein the thrombus extended to the inferior vena cava (IVC) reaching the right atrium without affecting the hemodynamic status. This is a 59-year-old male who presented with melena. He was found to have grade 3 esophageal varices with findings suggestive of recent bleeding associated with a large amount of blood in the gastric body that required banding. Computed tomography (CT) of the abdomen and pelvis showed multiple liver masses with an intraluminal IVC mass extending from the hepatic vein into the right atrium. A CT scan of the chest confirmed the presence of a tumor thrombus in the IVC extending to the right atrium. The patient declines surgical intervention and he was discharged. Unfortunately, he passed after a short period of time. In conclusion, tumor thrombus formation is common in HCC. However, expansion of the thrombus to IVC and right atrium is rare and indicates poor prognosis.
Synchronous multiple primary lung cancer is a unique type of lung carcinomas that are diagnosed with more than two different pathological types in the same or different lung lobes. Isolated metastasis to the kidney is considered rare. Herein, we present a case of a 58-year-old male with a history of chronic obstructive pulmonary disease (COPD) and 40 pack-year of cigarette smoking, who was diagnosed with synchronous small cell lung cancer (SCLC) and squamous cell carcinoma (SCC) with isolated metastasis to the kidney. Isolated kidney metastasis from lung cancer is an infrequent finding; it should be considered when the patient is diagnosed with lung cancer. In the absence of disseminated disease and contraindications, nephrectomy is an option for treatment with chemotherapy or as a palliative measure if the patient is symptomatic.
Non-secretory multiple myeloma (NSMM) constitutes a distinct entity of multiple myeloma characterized by the absence of detectable monoclonal protein and rarely an absence of free light chains in the serum and urine. Given its rarity, the genomic landscape, clinical course, and prognosis of NSSM are not well characterized. Here, we report a case of a patient with relapsed and refractory NSMM with brain metastasis harboring a TFG-ALK fusion showing a dramatic and durable (over two years) response to commercially available anaplastic lymphoma kinase (ALK) inhibitors. The case emphasizes the beneficial role of molecular profiling in this target-poor disease.
Extranodal natural killer (NK)/T-cell lymphoma (ENKTL) is a rare subtype of non-Hodgkin's lymphoma with a dismal prognosis. The pathogenesis almost invariably involves Epstein-Barr virus (EBV) infection, although EBV-negative ENKTLs are frequently reported in the western hemisphere. Treatment of these lymphomas consists of aggressive chemotherapy with dexamethasone, methotrexate, ifosfamide, L-asparaginase and etoposide (SMILE regimen). However, the SMILE regimen is poorly tolerated by elderly patients; therefore, treatment options are limited to palliative radiation and chemotherapy and/or hospice care. Recently, binding of programmed death (PD)-1 with its ligand (PD-L1) expressed on tumor cells was shown to downregulate effector T-cell function and may represent a potent mechanism of immune evasion in classical Hodgkin's lymphoma and aggressive B-cell lymphomas. Thus, targeting PD-L1/PD-1 to inhibit effector T-cell signaling may be a promising therapeutic strategy for these NK/T-cell lymphomas. We herein report the clinical efficacy and feasibility of the anti-PD-1 inhibitor pembrolizumab used concurrently with radiation therapy and as maintenance therapy in an elderly female patient. The findings demonstrated that pembrolizumab may be an effective and well-tolerated treatment for this type of lymphoma.
Renal transplant as a treatment option for end-stage renal disease (ESRD) is becoming increasingly prevalent. As with any other surgical intervention, complications may occur, including vascular ones. Pseudoaneurysms are particularly rare, with mycotic aneurysms reported in less than 1% of patients after renal transplant. Here, we present a case of an infected pseudoaneurysm involving the renal artery anastomosis, resulting in the explantation of the transplanted kidney. A 77-year-old man underwent deceased donor renal transplant for ESRD in the setting of diabetes and hypertension. He presented with acute kidney injury; a renal biopsy revealed mild active cellular rejection, treated with high-dose steroids. As renal function continued to deteriorate, a repeat renal biopsy was performed. During ultrasound-guided biopsy of the transplanted kidney, a possible aneurysm proximal to the anastomosis of the renal artery to the right external iliac artery was seen. A pelvic arteriogram showed a large 3 cm x 3.4 cm x 4 cm pseudoaneurysm arising directly off the right external iliac artery with the renal transplant artery filling from the distal side of this aneurysm. The patient was taken to the operation room for a re-exploration of his transplanted kidney and revision of the arterial anastomosis. Intraoperatively, necrotic tissue and purulence within the pseudo-aneurysm were noted with failure to salvage blood supply to the transplanted kidney; both the infected pseudo-aneurysm and renal transplant were resected. A portion of the aneurysm was sent to microbiology for culture; fungal cultures grew Aspergillus flavus. He was treated with isavuconazonium and improved clinically, though he subsequently expired following a sudden cardiac arrest. Given its rarity, most medical professionals will be unfamiliar with this unusual complication in renal transplant patients. Our case highlights the importance of pursuing imaging modalities to help identify vascular complications and discusses how to proceed after diagnosis is made. The importance of knowing this process is paramount in improving future patient outcomes.
Breast cancer is the most common cancer in women; it is well-known to metastasize to lymph nodes, lungs, liver, brain, and bones. However, luminal gastrointestinal metastasis is rare, especially to the appendix. Herein, we report a case where cancer metastasized to the ileum and appendix, causing acute appendicitis and small bowel obstruction. This is a 44-year-old female with a history of stage IV metastatic breast cancer to bones, lungs, and ovaries, presented with acute abdominal pain for one day. Her abdomen was soft, distended with generalized tenderness. Computed tomography (CT) of the abdomen and pelvis showed a partial small bowel obstruction and swollen appendix. After her symptoms worsened on conservative treatment, she was taken to the operating room where she was found to have a markedly dilated ileum with signs of acute appendicitis, so she underwent ileocecectomy, appendectomy, and lysis of adhesions. Pathology showed metastatic breast cancer in the appendix with findings consistent with acute appendicitis. She tolerated surgery well without complications. In conclusion, small intestinal and appendiceal metastases of breast cancer are very rare though they should be considered in the differential diagnosis in cancer patients presenting with acute abdominal pain.
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