scholarly journals Case Report: Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma - Two Stages of the Same Disease?

2018 ◽  
Vol 1 (1) ◽  
Author(s):  
Kapasi Farhana ◽  
Cabral Marta ◽  
Ameerally Phillip ◽  
Barbieri Antonia
Keyword(s):  
Case Report ◽  
Atypical Fibroxanthoma ◽  
Two Stages ◽  
Pleomorphic Dermal Sarcoma ◽  
Dermal Sarcoma

Analysis of the lymphatic vessel architecture of atypical fibroxanthoma and pleomorphic dermal sarcoma

2014 ◽  
Vol 71 (4) ◽  
pp. 842-845
Author(s):  
Carolin Zschoche ◽  
Corinna Hamsch ◽  
Heinz Kutzner ◽  
Thomas Mentzel ◽  
Siegfried Werchau ◽  
...  
Keyword(s):  
Lymphatic Vessel ◽  
Atypical Fibroxanthoma ◽  
Pleomorphic Dermal Sarcoma ◽  
Dermal Sarcoma

scholarly journals MYC gene amplification is a rare event in atypical fibroxanthoma and pleomorphic dermal sarcoma

Oncotarget ◽  
2018 ◽  
Vol 9 (30) ◽  
pp. 21182-21189 ◽  
Author(s):  
Timo Gaiser ◽  
Daniela Hirsch ◽  
Azadeh Orouji ◽  
Marisa Bach ◽  
Peter Kind ◽  
...  
Keyword(s):  
Gene Amplification ◽  
Rare Event ◽  
Atypical Fibroxanthoma ◽  
Myc Gene ◽  
Pleomorphic Dermal Sarcoma ◽  
Dermal Sarcoma

Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma

2019 ◽  
Vol 37 (3) ◽  
pp. 253-259 ◽  
Author(s):  
Teo Soleymani ◽  
Sumaira Z. Aasi ◽  
Roberto Novoa ◽  
S. Tyler Hollmig
Keyword(s):  
Atypical Fibroxanthoma ◽  
Pleomorphic Dermal Sarcoma ◽  
Dermal Sarcoma

scholarly journals Clinicopathological and Genomic Profiles of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Identify Overlapping Signatures with a High Mutational Burden

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 974
Author(s):  
Melike Ak ◽  
Abdullah Kahraman ◽  
Fabian M. Arnold ◽  
Patrick Turko ◽  
Mitchell P. Levesque ◽  
...  
Keyword(s):  
Optimal Outcomes ◽  
Atypical Fibroxanthoma ◽  
Genomic Signatures ◽  
Exposed Skin ◽  
Mutational Burden ◽  
Unknown Gene ◽  
Next Generation Sequencing Ngs ◽  
Pleomorphic Dermal Sarcoma ◽  
Gene Alterations ◽  
Dermal Sarcoma

Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) are rare tumors developing in chronically sun-exposed skin. Clinicopathological features are similar, but they differ in prognosis, while PDS has a more aggressive course with a higher risk for local recurrence and metastases. In current clinical practice, they are diagnosed by exclusion using immunohistochemistry. Thus, stringent diagnostic criteria and correct differentiation are critical in management and treatment for optimal outcomes. This retrospective single-center study collected clinicopathological data and tumor samples of 10 AFX and 18 PDS. Extracted genomic DNA from tumor specimens was analyzed by a next-generation sequencing (NGS) platform (FoundationOne-CDx™). Among 65 identified mutations, TP53 inactivating mutations were observed in all tumor specimens. In both AFX and PDS, the known pathogenic gene alterations in CDKN2A, TERT promoter, and NOTCH1 were frequently present, along with high mutational burden and stable Micro-Satellite Instability status. The mutational profiles differed only in ASXL1, which was only present in AFX. Further differences were identified in likely pathogenic and unknown gene alterations. Similarities in their genomic signatures could help to distinguish them from other malignancies, but they are not distinguishable between each other using the FoundationOne-CDx™ NGS panel. Therefore, histological criteria to determine diagnosis remain valid. For further insight, performing deep tumor profiling may be necessary.

Sign in / Sign up

Export Citation Format

Share Document