Copy number variations in atypical fibroxanthomas and pleomorphic dermal sarcomas

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Copy number variations in atypical fibroxanthomas and pleomorphic dermal sarcomas

Atypical fibroxanthomas (AFX) and pleomorphic dermal sarcomas (PDS) are frequent cutaneous sarcomas typically arising on sun-exposed skin in elderly patients. In contrast to AFX, which generally do not recur after complete excision, PDS locally recur in up to 50% and metastasize in up to 20%. We recently detected characteristic UV-induced TP53 mutations as potential driver mutation in almost al...

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Oncogene and therapeutic target analyses in atypical fibroxanthomas and pleomorphic dermal sarcomas

BACKGROUND Until now, almost nothing is known about the tumorigenesis of atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS). Our hypothesis is that AFX is the non-infiltrating precursor lesion of PDS. MATERIALS AND METHODS We performed the world-wide most comprehensive immunohistochemical and mutational analysis in well-defined AFX (n=5) and PDS (n=5). RESULTS In NGS-based mu...

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Copy number alteration signature defines undifferentiated pleomorphic sarcomas and leiomyosarcomas with poor prognosis

Results LMS presented lower frequency of genomic alterations in comparison with UPS. None of the variables were identified as independent prognostic factors, but gains at 1q21.3 were significantly associated with poor survival and showed almost significance as an independent prognostic factor (relative risk 13.8, P = 0.019). In addition, copy number profile of UPS and LMS was indistinguishable ...

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Human subtelomeric copy number variations.

Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions ('Subtelomeric Repeats') comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an impact on the dosage of transcripts embedded w...

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DNA copy number alterations in pleomorphic leiomyosarcoma: A case report

Pleomorphic leiomyosarcoma (P-LMS) is a rare morphological variant of LMS. The current study presents the cytogenetic data of a P-LMS that arose in the axillary region of a 31-year-old male. The results of array-based comparative genomic hybridization for the primary tumor showed DNA copy number alteration (DCNA) gains of 8ptel, 17ptel and 17q11.2 and losses of 2ptel, 7ptel, 7qtel, 10p15, 12p12...

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ژورنال

عنوان ژورنال: Oncotarget

سال: 2017

ISSN: 1949-2553

DOI: 10.18632/oncotarget.22691