Virchows Archiv

, Volume 472, Issue 3, pp 499–503 | Cite as

Metastatic malignant PEComa of the leg with identification of ATRX mutation by next-generation sequencing

  • Hussein Alnajar
  • Arlen Brickman
  • Lela Buckingham
  • Leonidas D. Arvanitis
Brief Report


The α-thalassemia mental retardation X-linked protein (ATRX) is a member of the Switch 2, sucrose non-fermenting 2 family (SWI2/SNF2) that encodes chromatin remodeling proteins. These proteins have an important role in the regulation of histone variant H3.3 deposition [1, 2].

Telomeres are repetitive hexameric 5′-TTAGGG-3 sequences at the ends of each strand of DNA that shorten each time a cell replicates. Tumor cells compensate progressive telomere shortage to achieve immortalization [3, 4]. Telomerase activation and alternative lengthening of telomeres (ALT) are two major mechanisms of telomere length maintenance [4]. Alternative lengthening of telomere is a telomerase-independent mechanism used by tumor cells to maintain the length of the telomere in 10–15% of cancers [3, 5]. ATRX mutations, most of them leading to loss of nuclear ATRX expression, have been associated strongly with ALT [3].

Somatic mutations of the ATRXgene located on chromosome Xq21.1 have been...


Compliance with ethical standards

Case reports are not considered to “not human subjects research” (NHSR) under federal regulations. Therefore, case reports do not require review by the Institutional Review Boards in our institution.


No funding was received.

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag GmbH Deutschland 2017

Authors and Affiliations

  1. 1.Department of PathologyRush University Medical CenterChicagoUSA

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