Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia
We describe two brothers who were diagnosed with hematological malignancies (one with AML and the other with T-cell lymphoblastic lymphoma). There was a history of leukemia in the paternal family and two of their siblings presented with low platelet counts and no history of significant bleeding. A microdeletion encompassing exons 1–2 of RUNX1 (outside the cluster region of the Runt Homology domain and the transactivation domain) was detected in six family members using array-CGH and MLPA validation. A low platelet count was not present in all deletion carriers and, therefore, it should not be used as an indication for screening in suspected families and family members.
Conclusion: Our case report underlines the importance of active endoscopic surveillance of the remaining colon and rectum in patients with diverting stomas and inflammatory bowel disease in order to detect stenosis. If endoscopic control is not possible due to obliteration, surgical therapy must be discussed due to the risk of developing cancer.Case Rep Gastroenterol 2018;12:143 –146
Conclusions: This study is the first nationwide study presenting an increase in incidence of EP-NEC patients from 196 to 260 cases annually in the Netherlands. We found the best 5 year relative survival to be for EP-NEC patients with local disease located in the bladder, where the worst 5 year relative survival was found in the oesophagus.
Mauro Di Ianni, Stefano Baldoni, Beatrice Del Papa, Patrizia Aureli, Erica Dorillo, Filomena De Falco, Elisa Albi, Emanuela Varasano, Ambra Di Tommaso, Raffaella Giancola, Patrizia Accorsi, Gianluca Rotta, Chiara Rompietti, Estev ão Carlos Silva Barcelos, Antonio Francesco Campese, Paolo Di Bartolomeo, Isabella Screpanti, Emanuela Rosati, Franca Falzetti, Paolo Sportoletti
Karine A. Al Feghali, Rami A. Ballout, Assem M. Khamis, Elie A. Akl, Fady B. Geara
Mayra A. Carrillo, Anjie Zhen, Scott G. Kitchen
PROSTATE cancer symptoms can be hard to spot, especially in the early stages. As it progresses, signs of the disease can begin to show, and if the cancer grows outside of the prostate, and other symptoms can develop, including three related to sex.
CONCLUSIONS Our results suggest that gastric cancer cells induce the transition of pericytes to CAFs by exosomes-mediated BMP transfer and PI3K/AKT and MEK/ERK pathway activation, and suggest that pericytes may be an important source of CAFs. PMID: 29668670 [PubMed - in process]
CONCLUSIONS This study is the first to provide evidence that propofol-mediated autophagy regulation is an underlying part of the mechanism by which propofol regulates HeLa cells progression. PMID: 29667627 [PubMed - in process]
Conclusion: The developed tunable resonator satisfied our initial requirements for in vivo EPR imaging and may be able to be further improved using the present finite-element and circuit models if any problems arise during future practical applications. Significance: This work may help to promote EPR imaging of tumor-bearing mice in cancer-related studies.
Almost 10,000 women a year are to benefit from NHS breast cancer tests that could spare them the stress of chemotherapy after a U-turn by Nice.