Transformed dermatofibrosarcoma protuberans: Real time polymerase chain reaction detection of COL1A1-PDGFB fusion transcripts in sarcomatous areas

Zoltan Szollosi, B. Scholtz, Kristof Egervari, Z. Nemes

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20 Citations (Scopus)

Abstract

Background: Recent cytogenetic studies have shown that reciprocal translocation t (17;22)(q22;q13) and a supernumerary ring chromosome derived from the translocation r(17;22) are highly characteristic of dermatofibrosarcoma protuberans (DFSP). The chromosomal rearrangements fuse the collagen type Iα1 (COL1A1) and the platelet-derived growth factor B-chain (PDGFB) genes. The COL1A1-PDGFB fusion transcript has been shown not only in conventional DFSP but also in a small series of DFSP with fibrosarcomatons areas (DFSP-FS) using reverse transcriptase-based conventional polymerase chain reaction. Nothing is known about the status of the COL1A1-PDGFB chimaeric gene in the pleomorphic areas of DFSP-PleoSarc (formerly known as DFSP-malignant fibrous sarcoma). Aims: To show the COL1A1-PDGFB fusion transcript in transformed malignant fibrous histiocytoma. Method: A real-time polymerase chain reaction assay for the COL1A1-PDGFB fusion transcript in a series of DFSP containing sarcoma was conducted to determine whether the chimaeric gene could be identified in both components of DFSP-FS and DFSP-PleoSarc. Eight cases were analysed. Results: In seven cases, transcriptable RNA was detected, and in these cases, translocations were found between COL1A1 and PDGFB genes involving exons 27, 32, 34, 40 and 47 of the COL1A1 gene and exon 2 of the PDGFB gene. Conclusions: From a diagnostic aspect, this assay can be particularly useful in confirming the diagnosis of sarcomatous DFSP. On the other hand, the COL1A1-PDGFB fusion gene was shown in three cases of DFSP containing pleomorphic sarcoma, which supports the theory of the common histogenesis.

Original languageEnglish
Pages (from-to)190-194
Number of pages5
JournalJournal of Clinical Pathology
Volume60
Issue number2
DOIs
Publication statusPublished - Feb 2007

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Dermatofibrosarcoma
Proto-Oncogene Proteins c-sis
Real-Time Polymerase Chain Reaction
Sarcoma
Genes
Exons
Ring Chromosomes
Malignant Fibrous Histiocytoma
Gene Fusion
RNA-Directed DNA Polymerase
Cytogenetics
Collagen

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

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title = "Transformed dermatofibrosarcoma protuberans: Real time polymerase chain reaction detection of COL1A1-PDGFB fusion transcripts in sarcomatous areas",
abstract = "Background: Recent cytogenetic studies have shown that reciprocal translocation t (17;22)(q22;q13) and a supernumerary ring chromosome derived from the translocation r(17;22) are highly characteristic of dermatofibrosarcoma protuberans (DFSP). The chromosomal rearrangements fuse the collagen type Iα1 (COL1A1) and the platelet-derived growth factor B-chain (PDGFB) genes. The COL1A1-PDGFB fusion transcript has been shown not only in conventional DFSP but also in a small series of DFSP with fibrosarcomatons areas (DFSP-FS) using reverse transcriptase-based conventional polymerase chain reaction. Nothing is known about the status of the COL1A1-PDGFB chimaeric gene in the pleomorphic areas of DFSP-PleoSarc (formerly known as DFSP-malignant fibrous sarcoma). Aims: To show the COL1A1-PDGFB fusion transcript in transformed malignant fibrous histiocytoma. Method: A real-time polymerase chain reaction assay for the COL1A1-PDGFB fusion transcript in a series of DFSP containing sarcoma was conducted to determine whether the chimaeric gene could be identified in both components of DFSP-FS and DFSP-PleoSarc. Eight cases were analysed. Results: In seven cases, transcriptable RNA was detected, and in these cases, translocations were found between COL1A1 and PDGFB genes involving exons 27, 32, 34, 40 and 47 of the COL1A1 gene and exon 2 of the PDGFB gene. Conclusions: From a diagnostic aspect, this assay can be particularly useful in confirming the diagnosis of sarcomatous DFSP. On the other hand, the COL1A1-PDGFB fusion gene was shown in three cases of DFSP containing pleomorphic sarcoma, which supports the theory of the common histogenesis.",
author = "Zoltan Szollosi and B. Scholtz and Kristof Egervari and Z. Nemes",
year = "2007",
month = "2",
doi = "10.1136/jcp.2006.037200",
language = "English",
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TY - JOUR

T1 - Transformed dermatofibrosarcoma protuberans

T2 - Real time polymerase chain reaction detection of COL1A1-PDGFB fusion transcripts in sarcomatous areas

AU - Szollosi, Zoltan

AU - Scholtz, B.

AU - Egervari, Kristof

AU - Nemes, Z.

PY - 2007/2

Y1 - 2007/2

N2 - Background: Recent cytogenetic studies have shown that reciprocal translocation t (17;22)(q22;q13) and a supernumerary ring chromosome derived from the translocation r(17;22) are highly characteristic of dermatofibrosarcoma protuberans (DFSP). The chromosomal rearrangements fuse the collagen type Iα1 (COL1A1) and the platelet-derived growth factor B-chain (PDGFB) genes. The COL1A1-PDGFB fusion transcript has been shown not only in conventional DFSP but also in a small series of DFSP with fibrosarcomatons areas (DFSP-FS) using reverse transcriptase-based conventional polymerase chain reaction. Nothing is known about the status of the COL1A1-PDGFB chimaeric gene in the pleomorphic areas of DFSP-PleoSarc (formerly known as DFSP-malignant fibrous sarcoma). Aims: To show the COL1A1-PDGFB fusion transcript in transformed malignant fibrous histiocytoma. Method: A real-time polymerase chain reaction assay for the COL1A1-PDGFB fusion transcript in a series of DFSP containing sarcoma was conducted to determine whether the chimaeric gene could be identified in both components of DFSP-FS and DFSP-PleoSarc. Eight cases were analysed. Results: In seven cases, transcriptable RNA was detected, and in these cases, translocations were found between COL1A1 and PDGFB genes involving exons 27, 32, 34, 40 and 47 of the COL1A1 gene and exon 2 of the PDGFB gene. Conclusions: From a diagnostic aspect, this assay can be particularly useful in confirming the diagnosis of sarcomatous DFSP. On the other hand, the COL1A1-PDGFB fusion gene was shown in three cases of DFSP containing pleomorphic sarcoma, which supports the theory of the common histogenesis.

AB - Background: Recent cytogenetic studies have shown that reciprocal translocation t (17;22)(q22;q13) and a supernumerary ring chromosome derived from the translocation r(17;22) are highly characteristic of dermatofibrosarcoma protuberans (DFSP). The chromosomal rearrangements fuse the collagen type Iα1 (COL1A1) and the platelet-derived growth factor B-chain (PDGFB) genes. The COL1A1-PDGFB fusion transcript has been shown not only in conventional DFSP but also in a small series of DFSP with fibrosarcomatons areas (DFSP-FS) using reverse transcriptase-based conventional polymerase chain reaction. Nothing is known about the status of the COL1A1-PDGFB chimaeric gene in the pleomorphic areas of DFSP-PleoSarc (formerly known as DFSP-malignant fibrous sarcoma). Aims: To show the COL1A1-PDGFB fusion transcript in transformed malignant fibrous histiocytoma. Method: A real-time polymerase chain reaction assay for the COL1A1-PDGFB fusion transcript in a series of DFSP containing sarcoma was conducted to determine whether the chimaeric gene could be identified in both components of DFSP-FS and DFSP-PleoSarc. Eight cases were analysed. Results: In seven cases, transcriptable RNA was detected, and in these cases, translocations were found between COL1A1 and PDGFB genes involving exons 27, 32, 34, 40 and 47 of the COL1A1 gene and exon 2 of the PDGFB gene. Conclusions: From a diagnostic aspect, this assay can be particularly useful in confirming the diagnosis of sarcomatous DFSP. On the other hand, the COL1A1-PDGFB fusion gene was shown in three cases of DFSP containing pleomorphic sarcoma, which supports the theory of the common histogenesis.

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