Neurofibromatosis type 2 is an autosomal dominant disorder characterized by bilateral vestibular schwannomas that can lead to significant hearing loss or deafness. Symptoms include tinnitus, hearing loss, and balance problems, with an average age of onset of 18–24 years and nearly 100% penetrance.
A reported 22%–58% of patients with cancer experience distress that can occur at any point along the clinical course, and it can interfere with their ability to cope well with cancer, its physical symptoms, and treatment. Oncology nurses can teach patients about mind-body approaches such as deep breathing, progressive muscle relaxation (PMR), and mindfulness to help self-manage distress and guide them to resources for mind-body practices.
When Ethan was 15 years old, he was diagnosed with osteogenic sarcoma. He underwent chemotherapy and was deemed cancer free for nearly 10 years. Maria, an advanced oncology certified nurse, worked closely with Ethan’s healthcare team throughout his treatment. She got to know Ethan, his sense of humor, and his dreams of becoming a child psychologist.
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition that stems from a pathogenic variant in the NF1 gene, which regulates the production of the tumor-suppressing neurofibromin protein. NF1 disorder is characterized by pigmentation changes (e.g., café au lait spots; see image), cutaneous neurofibromas, malignant nerve sheath tumors, gastrointestinal stromal tumors, and intellectual disorders. Signs and symptoms vary widely, but NF1 disorders occur in 1 in about 3,000–4,000 people. Almost half of the cases are de novo.
In clinical trials, pirobrutinib (Jaypirca™) was effective in restoring BTK inhibition in patients that experienced progression after previously receiving a covalent BTK inhibitor. Pirobrutinib became the first-available noncovalent (reversible) BTK inhibitor in January 2023 when the U.S. Food and Drug Administration granted it accelerated approval.
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