Oral malignant gastrointestinal neuroectodermal tumour with junctional component mimicking mucosal melanoma.

Autor: Allanson BM; Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Sydney, NSW, Australia. Electronic address: Benjamin.Allanson@health.nsw.gov.au., Weber MA; Department of Anatomical Pathology, NSW Health Pathology East, Prince of Wales Hospital/Sydney Children's Hospital, Randwick, NSW, Australia; School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia., Jackett LA; Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Sydney, NSW, Australia; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia; Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia., Chan C; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia; Department of Anatomical Pathology, NSW Health Pathology, Concord Repatriation General Hospital, Sydney, NSW, Australia., Lau L; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, NSW, Australia; Children's Cancer Institute, University of New South Wales, Sydney, NSW, Australia., Ziegler DS; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, NSW, Australia; Children's Cancer Institute, University of New South Wales, Sydney, NSW, Australia., Warby M; Nelune Comprehensive Cancer Centre, Prince of Wales Hospital, Randwick, NSW, Australia., Mayoh C; Children's Cancer Institute, University of New South Wales, Sydney, NSW, Australia., Cowley MJ; Children's Cancer Institute, University of New South Wales, Sydney, NSW, Australia; Kinghorn Centre for Clinical Genomics, Garvan Institute, Sydney, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia., Tucker KM; Nelune Comprehensive Cancer Centre, Prince of Wales Hospital, Randwick, NSW, Australia; Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia., Long GV; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia; Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia; Department of Medical Oncology, Royal North Shore Hospital, Sydney, NSW, Australia., Maher A; Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Sydney, NSW, Australia; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia., Anazodo A; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, NSW, Australia; Nelune Comprehensive Cancer Centre, Prince of Wales Hospital, Randwick, NSW, Australia., Scolyer RA; Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, Sydney, NSW, Australia; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia; Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Jazyk: angličtina
Zdroj: Pathology [Pathology] 2018 Oct; Vol. 50 (6), pp. 648-653. Date of Electronic Publication: 2018 Aug 31.
DOI: 10.1016/j.pathol.2018.07.002
Abstrakt: Malignant gastrointestinal neuroectodermal tumour (GNET) is a recently characterised rare and aggressive tumour that typically arises in association with the small intestine of adults. We present a novel case of this entity and expand the spectrum of its reported morphological features. The patient was a 5-year-old female, the youngest reported patient affected by the condition, and presented with extra-abdominal disease. The histopathological features included the presence of a junctional component of the palatal tumour, which mimicked mucosal melanoma, a feature that has not been previously reported in GNET. Whole genome and RNA sequencing was performed that demonstrated the EWSR1-ATF1 translocation characteristic of GNET. Knowledge of this entity and its features, together with careful morphological assessment supplemented by judicious immunohistochemical and molecular studies should enable the correct diagnosis to be established.
(Copyright © 2018 Royal College of Pathologists of Australasia. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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