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Genetic aberrations in imatinib-resistant dermatofibrosarcoma protuberans revealed by whole genome sequencing.

Dermatofibrosarcoma protuberans (DFSP) is a very rare soft tissue sarcoma. DFSP often reveals a specific chromosome translocation, t(17;22)(q22;q13), which results in the fusion of collagen 1 alpha 1 ( COL1A1 ) gene and platelet-derived growth factor-B ( PDGFB ) gene. The COL1A1-PDGFB fusion protein... Full description

Journal Title: PloS one 2013, Vol.8(7), p.e69752
Main Author: Hong, Jung Yong
Other Authors: Liu, Xiao , Mao, Mao , Li, Miao , Choi, Dong Il , Kang, Shin Woo , Lee, Jeeyun , La Choi, Yoon
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: E-ISSN: 1932-6203 ; DOI: 10.1371/journal.pone.0069752
Link: http://search.proquest.com/docview/1418646449/?pq-origsite=primo
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title: Genetic aberrations in imatinib-resistant dermatofibrosarcoma protuberans revealed by whole genome sequencing.
format: Article
creator:
  • Hong, Jung Yong
  • Liu, Xiao
  • Mao, Mao
  • Li, Miao
  • Choi, Dong Il
  • Kang, Shin Woo
  • Lee, Jeeyun
  • La Choi, Yoon
subjects:
  • Benzamides–Therapeutic Use
  • CARD Signaling Adaptor Proteins–Genetics
  • Carrier Proteins–Genetics
  • Dermatofibrosarcoma–Drug Therapy
  • Drug Resistance, Neoplasm–Genetics
  • Female–Genetics
  • Gtpase-Activating Proteins–Genetics
  • Humans–Genetics
  • Imatinib Mesylate–Genetics
  • In Vitro Techniques–Therapeutic Use
  • Matrix Attachment Region Binding Proteins–Therapeutic Use
  • Middle Aged–Genetics
  • Nuclear Matrix-Associated Proteins–Genetics
  • Piperazines–Genetics
  • Pyrimidines–Genetics
  • Receptors, Estrogen–Genetics
  • Benzamides
  • CARD Signaling Adaptor Proteins
  • Card10 Protein, Human
  • Carrier Proteins
ispartof: PloS one, 2013, Vol.8(7), p.e69752
description: Dermatofibrosarcoma protuberans (DFSP) is a very rare soft tissue sarcoma. DFSP often reveals a specific chromosome translocation, t(17;22)(q22;q13), which results in the fusion of collagen 1 alpha 1 ( COL1A1 ) gene and platelet-derived growth factor-B ( PDGFB ) gene. The COL1A1-PDGFB fusion protein activates the PDGFB receptor and resultant constitutive activation of PDGFR receptor is essential in the pathogenesis of DFSP. Thus, blocking PDGFR receptor activation with imatinib has shown promising activity in the treatment of advanced and metastatic DFSP. Despite the success with targeted agents in cancers, acquired drug resistance eventually occurs. Here, we tried to identify potential drug resistance mechanisms against imatinib in a 46-year old female with DFSP who initially responded well to imatinib but suffered rapid disease progression. We performed whole-genome sequencing of both pre-treatment and post-treatment tumor tissue to identify the mutational events associated with imatinib resistance. No significant copy number alterations, insertion, and deletions were identified during imatinib treatment. Of note, we identified newly emerged 8 non-synonymous somatic mutations of the genes ( ACAP2 , CARD10 , KIAA0556 , PAAQR7 , PPP1R39 , SAFB2 , STARD9 , and ZFYVE9 ) in the imatinib-resistant tumor tissue. This study revealed diverse possible candidate mechanisms by which imatinib resistance to PDGFRB inhibition may arise in DFSP, and highlights the usefulness of whole-genome sequencing in identifying drug resistance mechanisms and in pursuing genome-directed, personalized anti-cancer therapy.
language: eng
source:
identifier: E-ISSN: 1932-6203 ; DOI: 10.1371/journal.pone.0069752
fulltext: fulltext
issn:
  • 19326203
  • 1932-6203
url: Link


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titleGenetic aberrations in imatinib-resistant dermatofibrosarcoma protuberans revealed by whole genome sequencing.
creatorHong, Jung Yong ; Liu, Xiao ; Mao, Mao ; Li, Miao ; Choi, Dong Il ; Kang, Shin Woo ; Lee, Jeeyun ; La Choi, Yoon
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identifierE-ISSN: 1932-6203 ; DOI: 10.1371/journal.pone.0069752
subjectBenzamides–Therapeutic Use ; CARD Signaling Adaptor Proteins–Genetics ; Carrier Proteins–Genetics ; Dermatofibrosarcoma–Drug Therapy ; Drug Resistance, Neoplasm–Genetics ; Female–Genetics ; Gtpase-Activating Proteins–Genetics ; Humans–Genetics ; Imatinib Mesylate–Genetics ; In Vitro Techniques–Therapeutic Use ; Matrix Attachment Region Binding Proteins–Therapeutic Use ; Middle Aged–Genetics ; Nuclear Matrix-Associated Proteins–Genetics ; Piperazines–Genetics ; Pyrimidines–Genetics ; Receptors, Estrogen–Genetics ; Benzamides ; CARD Signaling Adaptor Proteins ; Card10 Protein, Human ; Carrier Proteins
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descriptionDermatofibrosarcoma protuberans (DFSP) is a very rare soft tissue sarcoma. DFSP often reveals a specific chromosome translocation, t(17;22)(q22;q13), which results in the fusion of collagen 1 alpha 1 ( COL1A1 ) gene and platelet-derived growth factor-B ( PDGFB ) gene. The COL1A1-PDGFB fusion protein activates the PDGFB receptor and resultant constitutive activation of PDGFR receptor is essential in the pathogenesis of DFSP. Thus, blocking PDGFR receptor activation with imatinib has shown promising activity in the treatment of advanced and metastatic DFSP. Despite the success with targeted agents in cancers, acquired drug resistance eventually occurs. Here, we tried to identify potential drug resistance mechanisms against imatinib in a 46-year old female with DFSP who initially responded well to imatinib but suffered rapid disease progression. We performed whole-genome sequencing of both pre-treatment and post-treatment tumor tissue to identify the mutational events associated with imatinib resistance. No significant copy number alterations, insertion, and deletions were identified during imatinib treatment. Of note, we identified newly emerged 8 non-synonymous somatic mutations of the genes ( ACAP2 , CARD10 , KIAA0556 , PAAQR7 , PPP1R39 , SAFB2 , STARD9 , and ZFYVE9 ) in the imatinib-resistant tumor tissue. This study revealed diverse possible candidate mechanisms by which imatinib resistance to PDGFRB inhibition may arise in DFSP, and highlights the usefulness of whole-genome sequencing in identifying drug resistance mechanisms and in pursuing genome-directed, personalized anti-cancer therapy.
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authorHong, Jung Yong ; Liu, Xiao ; Mao, Mao ; Li, Miao ; Choi, Dong Il ; Kang, Shin Woo ; Lee, Jeeyun ; La Choi, Yoon
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