ABSTRACT
Children with papillary thyroid carcinoma (PTC) may relapse despite response to radioactive iodine (RAI). Two children with multiply relapsed PTC underwent whole-genome and transcriptome sequencing. A TPM3-NTRK1 fusion was identified in one tumor, with outlier NTRK1 expression compared to the TCGA thyroid cancer compendium and to Illumina BodyMap normal thyroid. This patient demonstrated resolution of multiple pulmonary nodules without toxicity on oral TRK inhibitor therapy. A RET fusion was identified in the second tumor, another potentially actionable finding. Identification of oncogenic drivers in recurrent pediatric PTC may facilitate targeted therapy while avoiding repeated RAI.
Subject(s)
Biomarkers, Tumor , Genomics , Thyroid Cancer, Papillary/genetics , Thyroid Cancer, Papillary/pathology , Alleles , Child , Genome-Wide Association Study , Genomics/methods , Genotype , Humans , Male , Molecular Targeted Therapy , Mutation , Oncogene Proteins, Fusion/genetics , Positron Emission Tomography Computed Tomography , Thyroid Cancer, Papillary/drug therapy , Tomography, X-Ray ComputedABSTRACT
INTRODUCTION: The association between hypopituitarism, Chiari I malformation, and syringomyelia has been recently recognized. Most of the reported patients suffered perinatal injury or asphyxia. MATERIALS AND METHODS: We present the case of a premature child without identifiable perinatal injury, who was recognized to have growth hormone (GH) deficiency, Chiari I malformation, and syringohydromyelia. CONCLUSION: There was a resolution of syrinx and tonsillar herniation after GH replacement.
Subject(s)
Arnold-Chiari Malformation/drug therapy , Human Growth Hormone/therapeutic use , Syringomyelia/drug therapy , Arnold-Chiari Malformation/complications , Arnold-Chiari Malformation/pathology , Child , Humans , Infant, Newborn , Infant, Premature , Magnetic Resonance Imaging , Male , Syringomyelia/complications , Syringomyelia/pathology , Thyroxine/therapeutic useABSTRACT
We describe 2 patients with very unusual rheumatological presentations presumably caused by Bartonella infection: one had myositis of proximal thigh muscles bilaterally, and the other had arthritis and skin nodules. Both patients had very high levels of antibody to Bartonella that decreased in association with clinical improvement. Bartonella infection should be considered in the differential diagnosis of unusual myositis or arthritis in children.