ABSTRACT
RATIONALE: Colorectal cancer is the third most common cancer diagnosed worldwide. At the time of diagnosis of colorectal cancer, one of the most common metastatic sites is liver. Gastric metastasis from colorectal origin is rare. Moreover, a direct invasion of the stomach, by hepatic metastasis from colorectal cancer, is particularly uncommon. PATIENT CONCERNS: A 56-year-old male patient with hematochezia was referred to our hospital. DIAGNOSIS: The patient was diagnosed with unresectable colorectal cancer because of the presence ofâ >10 metastases involving both lobes of the liver. INTERVENTIONS AND OUTCOMES: After chemotherapy, the metastatic nodules in the liver nearly disappeared, except for a small nodule in segment VI. The patient underwent a radiofrequency ablation for the single lesion in the liver and laparoscopic low-anterior-resection for the primary tumor. Despite receiving various chemotherapy regimens, he experienced 6 recurrences, leading to 5 hepatectomies including a right hemi-hepatectomy, 1 pulmonary wedge resection, and 2 courses of radiation treatments. Lastly, a metastatic lesion in the liver was observed with invasion into the stomach. Subsequently, gastric wedge resection with resection of segments III and IV of the liver was performed. Direct invasion of the liver metastases into the stomach was confirmed histologically. LESSONS: The patient is still alive, with a good quality of life, even after more than 8 years since the initial diagnosis. In the last instance of metastatic recurrence, direct invasion from the liver metastases into the stomach was observed, which is rare, and there are currently no reported cases.
Subject(s)
Colorectal Neoplasms , Liver Neoplasms , Male , Humans , Middle Aged , Quality of Life , StomachABSTRACT
BACKGROUND: JAK2 mutation status is a well-known risk factor for thrombosis in patients with myeloproliferative neoplasms. However, the clinical usefulness of JAK2 V617F allele burden is under investigation. METHODS: We retrospectively evaluated the impact of the JAK2 V617F allele burden on clinical characteristics and outcomes of JAK2 V617F-positive polycythemia vera (PV) and essential thrombocythemia (ET). The JAK2 V617F allele burden was measured using sequencing. RESULTS: Altogether, 127 patients with JAK2 V617F mutation (PV, N=61; ET, N=66) were included in this study. JAK2 V617F allele burdens were positively correlated with white blood cell counts, hemoglobin values, lactate dehydrogenase levels, and platelet counts. The median values of JAK2 V617F allele burden in patients with PV and ET were 58% and 30%, respectively. A JAK2 V617F allele burden of ≥30%, older age, and a higher hemoglobin level were risk factors for thrombotic events in ET. In patients with PV, older age was the only thrombotic risk factor. The 8-year probabilities of overall survival (OS) were 82.9% in all patients. A high JAK2 V617F allele burden (≥58%) was associated with poor OS in patients with PV. For the patients with ET, the difference in 8-year OS based on the JAK2 V617F allele burden was not significant. CONCLUSION: The JAK2 V617F allele burden was correlated with hematologic parameters and clinical outcomes. Assessing the JAK2 V617F allele burden can be helpful in predicting the thrombotic risk and disease course in patients with JAK2 V617F-positive PV and ET.
ABSTRACT
Fluorescence in situ hybridization (FISH) with DNA probes allows the visualization of gene copy number and localization of specific DNA targets with fluorescence microscopy. Cells in culture, metaphase chromosomes, and tissue sections are fixed and prepared on glass slides. Both the DNA in the cells and fluorescently labeled probe are denatured, and the labeled probe is allowed to hybridize to the cellular DNA. The slides are washed, counterstained, and viewed via fluorescence microscopy. We describe the basic method for preparing slides and probes for studies involving DNA copy number changes and structural chromosome rearrangements in formalin-fixed paraffin-embedded (FFPE) tissue sections and cell culture preparations.
