Τίτλος:
Sporadic melanotic schwannoma with overlapping features of melanocytoma bearing a GNA11 mutation in an adolescent girl
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Melanotic schwannoma (MS) is a soft tissue neoplasm that shares histologic features with melanocytic tumors and schwannomas. A type of MS, called psammomatous MS (PMS), is associated with Carney complex (CNC), which is caused by PRKAR1A mutations. Other pigmented neoplasms, such as uveal melanomas and melanocytomas (MCs), are associated with genetic defects in other genes including GNA11. We report an adolescent female with a large sporadic mesenteric MS with complex histologic findings reminiscent of both PMS and MC. The lesion carried a mutation of the GNA11 gene. We conclude that sporadic MSs may occur rarely in adolescents without CNC; MSs may also be associated with somatic GNA11 mutations. © 2016 Wiley Periodicals, Inc.
Συγγραφείς:
Tatsi, C.
Bacopoulou, F.
Lyssikatos, C.
Belyavskaya, E.
Faucz, F.R.
Stratakis, C.A.
Περιοδικό:
Pediatric Blood and Cancer
Εκδότης:
John Wiley and Sons Inc
Λέξεις-κλειδιά:
gna 11 protein; hemoglobin; hmb 45 protein; Ki 67 antigen; melan A; peptides and proteins; protein S 100; stem cell factor receptor; transcription factor Sox10; unclassified drug; GNA11 protein, human; guanine nucleotide binding protein alpha subunit; tumor protein, abdominal discomfort; abdominal mass; abdominal pain; abdominal radiography; adolescent; anemia; Article; cancer surgery; Carney complex; case report; computer assisted tomography; dizziness; female; histopathology; human; immunohistochemistry; immunophenotyping; melanocytosis; mitosis rate; neurilemoma; priority journal; soft tissue tumor; sporadic melanotic schwannoma; stomach distension; vomiting; genetics; neurilemoma; pathology, Adolescent; Carney Complex; Female; GTP-Binding Protein alpha Subunits; Humans; Neoplasm Proteins; Neurilemmoma
