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Case report
Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment
  1. V V Smitha,
  2. C Engc,
  3. P J Millab
  1. aDepartment of Histopathology, Great Ormond Street Hospital and Institute of Child Health, London, UK, bDepartment of Gastroenterology, Great Ormond Street Hospital and Institute of Child Health, London, UK, cDana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA
  1. Dr V V Smith, Histopathology, Camelia Botnar Laboratories, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK.

Abstract

Three infants, who presented with intestinal obstruction due to diffuse transmural intestinal ganglioneuromatosis, are described. Mutation analysis of exon 16 of the RETproto-oncogene revealed germline M918T and thus, a molecular diagnosis of multiple endocrine neoplasia type 2B (MEN 2B). Two infants developed medullary carcinoma of the thyroid. The third had a prophylactic thyroidectomy despite no obvious thyroid masses and normal calcitonin concentrations, but microscopic multifocal medullary carcinoma was found on histological examination. Early recognition of intestinal ganglioneuromatosis with germlineRET M918T mutation in pseudo-Hirschsprung’s disease is an indication for prophylactic thyroidectomy.

  • intestinal ganglioneuromatosis
  • RET
  • MEN 2B
  • thyroidectomy

  • Abbreviations used in this paper

    IND
    intestinal neuronal dysplasia
    MEN
    multiple endocrine neoplasia
    NGF
    nerve growth factor
    MTC
    medullary thyroid carcinoma
    ERK
    extracellular signal related kinases

    • https://doi.org/10.1136/gut.45.1.143

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    • Abbreviations used in this paper

      IND
      intestinal neuronal dysplasia
      MEN
      multiple endocrine neoplasia
      NGF
      nerve growth factor
      MTC
      medullary thyroid carcinoma
      ERK
      extracellular signal related kinases
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