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Complex t(5;8)
involving the CSPG2 and PTK2B genes in a case of dermatofibrosarcoma
protuberans without the COL1A1-PDGFB fusion.Virchows
Arch. 2008 Feb 6.
Dermatofibrosarcoma protuberans (DFSP) is a rare, dermal neoplasm of
intermediate malignancy. It is made of spindle-shaped tumor cells in a
storiform pattern positive for CD34. Cytogenetically, DFSP cells are
characterized by either supernumerary ring chromosomes composed of
sequences derived from chromosomes 17 and 22 or more rarely of
translocations t(17;22). These chromosomal rearrangements lead to the
formation of a specific chimeric gene fusing COL1A1 to PDGFB. So far,
the COL1A1-PDGFB fusion gene remains the sole fusion gene identified
in DFSP. However, some observations suggest that genes, other than
COL1A1 and PDGFB, might be involved in some DFSP cases. We report in
this paper a DFSP case presenting as a unique chromosomal abnormality
a complex translocation between chromosomes 5 and 8. This is the first
report of a DFSP case where the lack of chromosomes 17 and 22
rearrangement and the absence of COL1A1-PDGFB fusion gene have been
demonstrated. Using fluorescence in situ hybridization analysis, we
showed that the CSPG2 gene at 5q14.3 and the PTK2B gene at 8p21.2 were
disrupted by this rearrangement. Although rare, the existence of cases
of DFSP negative for the COL1A1-PDGFB fusion has to be taken in
consideration when performing molecular diagnosis for a tumor
suspected to be a DFSP. |
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Dermatofibrosarcoma Protuberans
Visit:
Dermpath-India
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Dermatofibrosarcoma protuberans in children.J Plast
Reconstr Aesthet Surg. 2007 Dec 18.
Dermatofibrosarcoma protuberans (DFSP) is a relatively rare neoplasm
affecting the skin. It is an infiltrative tumour of intermediate
malignancy, with a limited potential for metastasis but a high rate
of recurrence. The incidence in children is even less frequent,
although a proportion of those identified in adulthood may reflect a
delay in diagnosis of childhood DFSP. We report the experience of
DFSP seen at The Children's Hospital at Westmead (Sydney,
Australia). Three children aged 5, 10 and 11 years of age underwent
surgical excision of their lesions. Recurrence was evident in one
child whose initial histopathology was not definitive for DFSP, and
whose initial surgery had not involved wide local excision. All
three children were male, and all had lesions affecting their trunk.
One child whose lesion was thought to have been evident since birth
may have represented congenital DFSP. |
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March 2008
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