{"doi":"10.3897/folmed.62.e48003","title":"Review of Potential Significance of Mutations of ADAMTS20, NF1 and PKHD1 Detected Using Next Generation Sequencing (NGS) in Dermal Fibrosarcoma Arising in Dermatofibrosarcoma Protuberans","abstract":"<jats:p>We examined a status of fibrosarcoma arising in dermatofibrosarcoma protuberans of 64-year-old male patient. A dermal, solid, grayish-yellow, desmin-negative trichrome-bluish tumor measured 1.5 cm in diameter pT1a (edition 8 pTNM). It was composed of spindle cells. It was consistent with dermatofibrosarcoma protuberans (ICD-O3: 8832/3) in areas of low mitotic activity, low atypia and sustained CD34 positivity. CD34-negative texture with high mitotic index and atypia was consistent with the high grade sarcoma apparently of fibrous origin, given category of poorly differentiated fibrosarcoma. The high grade component was graded (G3) and scored according to French Federation of Cancer Centers Sarcoma Group (FNCLCC): total score of 6 points: tumor differentiation: 3 points + Mitotic count: 3 points (up to 26 mitoses/ 10HPF in high-grade fields), + no necrosis: 0 points. In low grade sarcomatous component <jats:italic>ADAMTS20 </jats:italic>(NM_025003: c.1661C&gt;T, p.P554L) <jats:italic>NF1 </jats:italic>(NM_001042492: c. 2173G&gt;T, p.E725X) and <jats:italic>PKHD1 </jats:italic>(NM_138694: c. 11074C&gt;T, p.R3692X) were revealed with following allelic frequencies: 25%, 27% and 17%. In high grade component allelic frequencies of the same mentioned mutations were 30%, 30% and 14% respectively. In the light of our findings, none of detected mutations can be regarded as a mutation that would definitely induce phenotype of high malignancy, because <jats:italic>ADAMTS20</jats:italic>, <jats:italic>NF1 </jats:italic>and <jats:italic>PKHD1 </jats:italic>mutations were detected both in high grade sarcoma and in low grade areas of dermatofibrosarcoma protuberans. It also points that these mutations appeared on early stages of tumor development.</jats:p>","journal":"Folia Medica","year":2020,"id":622110,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1606759,"name":"Andrzej Wincewicz","orcid":null,"position":1,"is_corresponding":false},{"id":1606760,"name":"Sebastian Zięba","orcid":null,"position":2,"is_corresponding":false},{"id":1606761,"name":"Janusz Kopczynski","orcid":null,"position":3,"is_corresponding":false},{"id":1606762,"name":"Mariusz Koda","orcid":null,"position":4,"is_corresponding":false},{"id":1606763,"name":"Stanisław Sulkowski","orcid":null,"position":5,"is_corresponding":false},{"id":1606764,"name":"Luiza Kańczuga-Koda","orcid":null,"position":6,"is_corresponding":false},{"id":1606765,"name":"Stanisław Góźdź","orcid":null,"position":7,"is_corresponding":false},{"id":482541,"name":"Artur Kowalik","orcid":"0000-0002-3718-999X","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Review of Potential Significance of Mutations of ADAMTS20, NF1 and PKHD1 Detected Using Next Generation Sequencing (NGS) in Dermal Fibrosarcoma Arising in Dermatofibrosarcoma Protuberans","abstract":"<jats:p>We examined a status of fibrosarcoma arising in dermatofibrosarcoma protuberans of 64-year-old male patient. A dermal, solid, grayish-yellow, desmin-negative trichrome-bluish tumor measured 1.5 cm in diameter pT1a (edition 8 pTNM). It was composed of spindle cells. It was consistent with dermatofibrosarcoma protuberans (ICD-O3: 8832/3) in areas of low mitotic activity, low atypia and sustained CD34 positivity. CD34-negative texture with high mitotic index and atypia was consistent with the high grade sarcoma apparently of fibrous origin, given category of poorly differentiated fibrosarcoma. The high grade component was graded (G3) and scored according to French Federation of Cancer Centers Sarcoma Group (FNCLCC): total score of 6 points: tumor differentiation: 3 points + Mitotic count: 3 points (up to 26 mitoses/ 10HPF in high-grade fields), + no necrosis: 0 points. In low grade sarcomatous component <jats:italic>ADAMTS20 </jats:italic>(NM_025003: c.1661C&gt;T, p.P554L) <jats:italic>NF1 </jats:italic>(NM_001042492: c. 2173G&gt;T, p.E725X) and <jats:italic>PKHD1 </jats:italic>(NM_138694: c. 11074C&gt;T, p.R3692X) were revealed with following allelic frequencies: 25%, 27% and 17%. In high grade component allelic frequencies of the same mentioned mutations were 30%, 30% and 14% respectively. In the light of our findings, none of detected mutations can be regarded as a mutation that would definitely induce phenotype of high malignancy, because <jats:italic>ADAMTS20</jats:italic>, <jats:italic>NF1 </jats:italic>and <jats:italic>PKHD1 </jats:italic>mutations were detected both in high grade sarcoma and in low grade areas of dermatofibrosarcoma protuberans. It also points that these mutations appeared on early stages of tumor development.</jats:p>","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"32337892","pmcid":null,"openalex_id":"https://openalex.org/W3014342528","authors":[],"funders":[],"total_grants":0,"fwci":0.0,"citation_percentile":0.04223119,"influential_citations":0,"citation_trend":[],"oa_status":"gold","license":"cc-by-nc","oa_locations":[{"url":"https://foliamedica.bg/article/48003/download/pdf/","host_type":"journal"},{"url":"https://foliamedica.bg/article/48003/download/pdf/","host_type":"publisher"},{"url":"https://foliamedica.bg/article/48003/download/xml/","host_type":"publisher"},{"url":"https://foliamedica.bg/article_preview.php?id=48003&skip_redirect=1","host_type":"publisher"},{"url":"https://doi.org/10.3897/folmed.62.e48003","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/32337892","host_type":"repository"},{"url":"https://doaj.org/article/ab5d4afd8b4040dcaeb32988f3f3065a","host_type":"repository"}],"fields_of_study":["Sarcoma Diagnosis and Treatment","Cancer Genomics and Diagnostics","Urologic and reproductive health conditions","ADAMTS Proteins","Dermatofibrosarcoma","High-Throughput Nucleotide Sequencing","Humans","Male","Middle Aged","Mutation","Neurofibromin 1","Receptors, Cell Surface","Sequence Analysis, DNA","Skin Neoplasms","Upper Extremity"],"mesh_terms":["ADAMTS Proteins","Humans","Male","Middle Aged","Mutation","Receptors, Cell Surface","Skin Neoplasms","Sequence Analysis, DNA","Dermatofibrosarcoma","Neurofibromin 1","Upper Extremity","High-Throughput Nucleotide Sequencing"],"keywords":["Dermatofibrosarcoma protuberans","Sarcoma","CD34","Undifferentiated Pleomorphic Sarcoma","Pathology","Fibrosarcoma","Nuclear atypia","Atypia","Biology","Dermatofibrosarcoma","Medicine","Cancer research","Soft tissue sarcoma","Immunohistochemistry","Genetics","Adamts20","Nf1 And Pkhd1"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-03T18:15:30.510340Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}