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CASE REPORT
De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma
  1. Don Chamil Codipilly1,
  2. Ralitza H Gavrilova2,
  3. Eric G Tangalos3
  1. 1Department of Internal Medicine, Mayo Clinic Minnesota, Rochester, Minnesota, USA
  2. 2Department of Clinical Genomics and Neurology, Mayo Clinic Minnesota, Rochester, Minnesota, USA
  3. 3Department of Primary Care Internal Medicine, Mayo Clinic Minnesota, Rochester, Minnesota, USA
  1. Correspondence to Dr Eric G Tangalos, tangalos{at}mayo.edu

Summary

Microdeletions involving chromosome 2p15-16.1 are a rare genetic abnormality and have been reported in 18 separate patients, mainly children, since 2007. This microdeletion syndrome is characterised by a heterogeneous expression of intellectual impairment, dysmorphic facies, musculoskeletal abnormalities and potential neurodevelopmental anomalies. We report the first case of natural progression in an adult patient who died at a young age of metastatic esophageal adenocarcinoma. Important learning points include the variable phenotypic expression of this microdeletion syndrome and the fact that clinicians must be thorough in investigating objective discrepancies in patients who cannot endorse classical symptoms.

https://doi.org/10.1136/bcr-2016-218016

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    Footnotes

    • Contributors DCC presented the case history, reviewed the literature, and wrote the first draft of the manuscript. RHG reviewed the genetic breakpoints of the mutation, and edited the manuscript. EGT was the supervising consultant who was the primary provider for the patient and edited the manuscript. All authors participated in the review of the article, reviewed the literature thoroughly and authorised the final manuscript prior to submission.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.