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Denver Papillae Protocol for Objective Analysis of Fungiform Papillae
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[A brown-red papule].

N A Ipenburg1, W J Mooi, R van Doorn

  • 1LUMC, afd. Dermatologie, Leiden.

Nederlands Tijdschrift Voor Geneeskunde
|December 9, 2017
PubMed
Summary
This summary is machine-generated.

A patient diagnosed with BAP1 tumour predisposition syndrome had a skin lesion. Genetic testing confirmed the syndrome, highlighting the need for early detection and screening for associated tumors.

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Area of Science:

  • Oncology
  • Genetics
  • Dermatopathology

Background:

  • BAP1 tumour predisposition syndrome (BPS) is a rare hereditary cancer syndrome.
  • It is associated with an increased risk of various neoplasms, including uveal melanoma, mesothelioma, and specific skin tumors.

Observation:

  • A 44-year-old woman presented with a brown-red papule on her back.
  • Histopathologic examination revealed a melanocytic BAP1-associated intradermal tumor.

Findings:

  • Germline mutation analysis confirmed a pathogenic variant in the BAP1 gene.
  • This genetic finding established the diagnosis of BAP1 tumour predisposition syndrome.

Implications:

  • Early diagnosis of BPS is crucial for genetic counseling and implementing surveillance protocols.
  • Proactive screening can aid in the early detection of associated malignancies, potentially improving patient outcomes.