Publications by authors named "E Calonje"

Aims: Sebaceous neoplasms constitute a group of adnexal tumours, including sebaceous adenoma, sebaceoma and sebaceous carcinoma. Although mismatch repair deficiency may be observed, the nature of the genetic alterations contributing to the development of most of these tumours is still unknown. In the present study, we describe the clinical, microscopic, and molecular features of eight sebaceomas with GRHL gene rearrangement.

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Article Synopsis
  • The Spitz group of melanocytic tumors should ideally include those with specific genomic changes like kinase receptor fusions and HRAS mutations, while traditional melanoma markers like BRAF mutations indicate a different diagnosis.
  • A study involving 70 melanocytic tumors utilized targeted sequencing to differentiate between Spitz and conventional melanomas and clarify their classifications.
  • The findings revealed substantial discrepancies in initial diagnoses, with 34% of cases having differing outcomes after molecular analysis, highlighting the need for genetic testing to improve diagnostic reliability in challenging cases.
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