Mutations of calreticulin (CALR) are associated with lower risk for thrombotic events in patients with essential thrombocythemia (ET). These findings, from a multicenter retrospective study, were published in the European Journal of Haematology.
In patients with ET, higher levels of platelets, lower hemoglobin levels, and fewer thrombotic complications, with a two-fold reduced risk of thrombosis, are characteristics of a driver mutation in the CALR gene. In this study, researchers sought to determine the impact of CALR mutation type on thrombotic risk.
Medical records from 983 patients treated at 11 hospitals in Spain and 4 in Poland since 2000 were assessed for major thrombotic events 2 years prior to and a median 7.6 years after an ET diagnosis and for CALR and Janus kinase 2 (JAK2) V617F mutations.
Patients were aged median 54 years, 36.2% were men, 64.8% had JAK2V617F mutation, and 27.6% had CALR mutation (53.3% type 1; 36.4% type 2; 10.3% other).
No one can prepare you for a cancer diagnosis of a child. Our daughter was four years old and began to complain about headaches. I assumed it was her eyes and made an appointment with an optometrist. Her sight was perfectly normal. A visit to her pediatrician lasted an hour with little insight, only suggestions to watch her diet, limit TV time and give her lots of water. She rarely watched TV and carried water with her throughout the day. Our diet doesn’t include sugar except from fresh fruit and we don’t eat boxed or canned food. I wasn’t optimistic. Eventually, her headaches became more severe on occasion, similar to migraines. We were sent to a neurologist. He requested blood work after she underwent an MRI. Thankfully, the blood work identified the problem-ET or essential thrombocythemia. We had never heard of it and had no idea what this meant for the future. A hematologist became our savior. With the proper diagnosis and medication, our daughter began to feel better, albeit a few side effects from the meds. Yogurt is a staple to help with GI issues, and a nap and early bedtime help fatigue. Yes, our little girl had what I would call fatigue. Our lives have changed but we do not let her ET control us. We control her ET. We manage her diagnosis as part of our daily lives as we would manage any other chronic disease. That is not to say it’s been easy. We have our moments of fear and doubt, but that doesn’t last as long as it used to. We keep very good records of her doctor visits, her blood levels and her overall health. We ask how she is feeling and pay attention to any changes that could be due to her ET. She is now 12 and enjoying a normal childhood. We are looking at Interferfon as a possible “next protocol,” if we think it will be better for her. We stay informed and are very pleased to see all of the clinical trials and new drugs on the horizon. It’s easy to say don’t panic if your child is diagnosed with an MPN. I would simply say, gather the facts, stay informed, be the voice they cannot be, and remember to take good care of yourself.
The introduction of fedratinib (Inrebic) to the treatment landscape of myelofibrosis (MF) and the challenges that have arisen over deciding between administering fedratinib or ruxolitinib (Jakafi) means more community oncologists should consult specialists when treating these patients, said Andrew Kuykendall, MD.