Dermatofibrosarcoma protuberans: clinical, pathological, and genetic (COL1A1-PDGFB ) study with therapeutic implications

Aims: To analyse the presence of collagen type I alpha 1–platelet‐derived growth factor beta (COL1A1–PDGFB) transcripts in 20 cases of dermatofibrosarcoma protuberans (DFSP) and to assess the relationship between COL1A1 breakpoints and clinical and histopathological variables. Methods and results: ...

Full description

Saved in:

Bibliographic Details
Published in:	Histopathology Vol. 54; no. 7; pp. 860 - 872
Main Authors:	Llombart, Beatriz, Sanmartín, Onofre, López-Guerrero, Jose Antonio, Monteagudo, Carlos, Serra, Carlos, Requena, Celia, Poveda, Andrés, Vistós, Juan Luis, Almenar, Sergio, Llombart-Bosch, Antonio, Guillén, Carlos
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-06-2009 Blackwell
Subjects:	Adolescent Adult Aged Aged, 80 and over Antineoplastic Agents - therapeutic use Base Sequence Benzamides Biological and medical sciences COL1A1-PDGFB fusion gene Collagen Type I - genetics Dermatofibrosarcoma - genetics Dermatofibrosarcoma - pathology Dermatofibrosarcoma - therapy dermatofibrosarcoma protuberans Dermatology DNA Primers - genetics Female fibrosarcoma Gene Fusion Genes, sis Humans Imatinib Mesylate Investigative techniques, diagnostic techniques (general aspects) Male Medical sciences Middle Aged Mohs Surgery myoid Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Piperazines - therapeutic use Pyrimidines - therapeutic use sclerosing Skin Neoplasms - genetics Skin Neoplasms - pathology Skin Neoplasms - therapy Tumors of the skin and soft tissue. Premalignant lesions Young Adult Skin disease Imatinib Sarcoma myoid Fibrosarcoma Malignant tumor imatinib mesylate Anatomic pathology Treatment sclerosing Genetics COL1A1―PDGFB fusion gene Dermatofibrosarcoma protuberans Hybrid gene Cancer
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Aims: To analyse the presence of collagen type I alpha 1–platelet‐derived growth factor beta (COL1A1–PDGFB) transcripts in 20 cases of dermatofibrosarcoma protuberans (DFSP) and to assess the relationship between COL1A1 breakpoints and clinical and histopathological variables. Methods and results: Multiplex reverse transcriptase‐polymerase chain reaction was carried out using frozen tissue. Our series contained 14 men and six women. Histologically, most cases were of conventional type (n = 9), followed by fibrosarcoma (n = 4), Bednar tumour (n = 2), sclerosing (n = 2), myoid (n = 1) and atrophic (n = 1) DFSP, and giant cell fibroblastoma (n = 1). Immunohistochemistry revealed CD34 expression in 90% of cases. COL1A1–PDGFB fusion transcripts were present in 89% of cases (exons 18, 19, 20, 25, 26, 31, 33/34, 39, 40, 46, 47 and 48 of COL1A1 with exon 2 of PDGFB). There was no recurrence of DFSP in any of the 19 patients treated by Mohs surgery. A partial response was obtained in the two patients treated with imatinib. Conclusions: The COL1A1–PDGFB fusion was present in all histological subtypes of DFSP, but not all cases expressed the fusion transcript. No association was observed between different COL1A1 breakpoints and clinicopathological parameters. Imatinib mesylate can be useful in locally advanced tumours and metastases.
Bibliography:	ark:/67375/WNG-RRXP138G-2 ArticleID:HIS3310 istex:83CA7476115C63389E5DC32028E8F84180316086 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Case Study-2 ObjectType-Feature-4 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0309-0167 1365-2559
DOI:	10.1111/j.1365-2559.2009.03310.x