Five years after her primary tumor was resected, she developed scalp metastases with a typical morphology of a high-grade ESS associated with t(10;17) and died of her disease.
A 13-year-old African American girl with a history of parathyroid adenoma, diagnosed at 8 years of age with multiple recurrences, presented with hypercalcemia and elevated parathyroid hormone when her disease had been reclassified as malignant.
The patient and her disease characteristics were analyzed, including age at onset, age at diagnosis, clinical presentation, clinical classification, family history, laboratory findings and MMACHC gene mutation.
This patient's clinical and laboratory findings coupled with the recently discovered role of anti-NSE antibodies in canine autoimmune retinopathy suggest that autoantibodies targeting NSE are involved in the pathogenesis of her disease.
In a patient with 2 TET2 mutations, the analysis of 5 blood samples at different phases of her disease showed the sequential occurrence of JAK2(V617F) and TET2 mutations concomitantly to the disease evolution.
In a patient with 2 TET2 mutations, the analysis of 5 blood samples at different phases of her disease showed the sequential occurrence of JAK2(V617F) and TET2 mutations concomitantly to the disease evolution.
Therefore, this BRCA1-associated breast cancer patient manifests a unique phenotype of increased background mutagenesis that likely contributed to the development of her disease independent of loss of heterozygosity at the susceptibility locus.