ABSTRACT
Glial choristoma of the tongue is a rare developmental anomaly usually occurring in the first two years of life. Although diverse theories have been suggested to explain its development, they do not seem to take into account the normal tongue development. We report here on a glial choristoma of the tongue in a two-month-old male with the aim to describe the clinicopathological features of this lesion and to discuss the pathogenetic role of the cells that normally migrate from the cranial neural crests to generate the ectomesenchymal derivatives of the tongue and express neuroglial differentiation as normal developmental pathway.
Subject(s)
Choristoma , Neuroglia , Tongue Diseases/pathology , Humans , Infant , MaleSubject(s)
Carcinoma, Squamous Cell/pathology , Petrous Bone/pathology , Skull Neoplasms/pathology , Temporal Bone/pathology , Aged , Chemoradiotherapy , Combined Modality Therapy , Facial Paralysis/etiology , Humans , Immunohistochemistry , Lymphocytes/pathology , Male , Otologic Surgical Procedures , Otoscopy , Tomography, X-Ray ComputedABSTRACT
BACKGROUND/AIMS: Gastrointestinal stromal tumors (GISTs) strongly express a receptor tyrosine kinase (RTK, c-KIT-CD117) harboring a KIT mutation that causes constitutive receptor activation leading to the development and growth of tumors; 35% of GISTs without KIT mutations have platelet-derived growth factor receptor alpha (PDGFRA) mutations, and the type of mutation plays an important role in the response to treatment. This study aimed to establish the frequency of stop codon mutations in the RTKs, KIT, and PDGFRA, in GISTs and correlate this molecular alteration with protein expression and treatment responsiveness. METHODS: Seventy-nine GISTs were analyzed for both KIT and PDGFRA mutations. Immunohistochemical expression was studied in tissue microarray blocks. RESULTS: We found three rare KIT mutations in exon 11 that induced a stop codon, two at position 563 and one at position 589, which have never been described before. All three tumors were CD117-, DOG1-, and CD34-positive. Two patients with a KIT stop codon mutation did not respond to imatinib therapy and died shortly after treatment. CONCLUSIONS: The association between stop codon mutations in KIT and patient survival, if confirmed in a larger population, may be useful in choosing effective therapies.
