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Kyrpychova, Liubov; Vanecek, Tomas; Grossmann, Petr; Martinek, Petr; Steiner, Petr; Hadravsky, Ladislav; Belousova, Irena E.; Shelekhova, Ksenya V.; Svajdler, Marian; Dubinsky, Pavol; Michal, Michal; Kazakov, Dmitry V.

Small Subset of Adenoid Cystic Carcinoma of the Skin Is Associated With Alterations of the MYBL1 Gene Similar to Their Extracutaneous Counterparts

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  • Media type: E-Article
  • Title: Small Subset of Adenoid Cystic Carcinoma of the Skin Is Associated With Alterations of the MYBL1 Gene Similar to Their Extracutaneous Counterparts
  • Contributor: Kyrpychova, Liubov; Vanecek, Tomas; Grossmann, Petr; Martinek, Petr; Steiner, Petr; Hadravsky, Ladislav; Belousova, Irena E.; Shelekhova, Ksenya V.; Svajdler, Marian; Dubinsky, Pavol; Michal, Michal; Kazakov, Dmitry V.
  • imprint: Ovid Technologies (Wolters Kluwer Health), 2018
  • Published in: The American Journal of Dermatopathology
  • Language: English
  • DOI: 10.1097/dad.0000000000001091
  • ISSN: 0193-1091
  • Keywords: Dermatology ; General Medicine ; Pathology and Forensic Medicine
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract:</jats:title> <jats:p>Adenoid cystic carcinoma (ACC) of the skin is a rare malignant neoplasm histologically identical to homonymous tumors in other organs. Cutaneous ACC has been found to harbor <jats:italic toggle="yes">MYB</jats:italic> gene activations, either through <jats:italic toggle="yes">MYB</jats:italic> chromosomal abnormalities or by generation of the <jats:italic toggle="yes">MYB–NFIB</jats:italic> fusion. In salivary gland ACC, in addition to the <jats:italic toggle="yes">MYB</jats:italic> gene, alterations in <jats:italic toggle="yes">MYBL1</jats:italic>, the gene closely related to <jats:italic toggle="yes">MYB</jats:italic>, have been reported. We studied 10 cases of cutaneous ACC (6 women, 4 men; and age range 51–83 years) for alterations in the <jats:italic toggle="yes">MYB</jats:italic>, <jats:italic toggle="yes">NFIB</jats:italic>, and <jats:italic toggle="yes">MYBL1</jats:italic> genes, using FISH and PCR. <jats:italic toggle="yes">MYB</jats:italic> break-apart and <jats:italic toggle="yes">NFIB</jats:italic> break-apart tests were positive in 4 and 5 cases, respectively. <jats:italic toggle="yes">MYB–NFIB</jats:italic> fusions were found in 4 cases. The break of <jats:italic toggle="yes">MYBL1</jats:italic> was found in 2 cases, and in one of them, the <jats:italic toggle="yes">NFIB</jats:italic> break-apart probe was positive, strongly indicating a <jats:italic toggle="yes">MYBL1–NFIB</jats:italic> fusion. In 2 cases, the <jats:italic toggle="yes">MYB</jats:italic> break-apart test was positive, whereas no <jats:italic toggle="yes">MYB–NFIB</jats:italic> was detected, strongly suggesting another fusion partner. It is concluded that <jats:italic toggle="yes">MYBL1</jats:italic> alterations are detected in primary cutaneous ACC but are apparently less common compared with <jats:italic toggle="yes">MYB</jats:italic> and <jats:italic toggle="yes">NFIB</jats:italic> alterations.</jats:p>