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. 2008 May;13(3):273-82.
doi: 10.1007/s00776-007-1215-1. Epub 2008 Jun 6.

Advantages and limitations of cytogenetic, molecular cytogenetic, and molecular diagnostic testing in mesenchymal neoplasms

Julia A Bridge  1
Affiliations

Advantages and limitations of cytogenetic, molecular cytogenetic, and molecular diagnostic testing in mesenchymal neoplasms

Julia A Bridge. J Orthop Sci. 2008 May.
No abstract available

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Figures

Fig. 1
Fig. 1
Lumbar region, retroperitoneal mass (arrow)
Fig. 2
Fig. 2
Computed tomography (CT)-guided needle biopsy specimen exhibiting spindle- and stellate-shaped cells in a collagenous background
Fig. 3
Fig. 3
A Multiple ring chromosomes (arrows) in a G-banded metaphase cell of a sclerosing (well-differentiated) liposarcoma. B Ring chromosomes (arrows) are composed of chromosome 12 material, as demonstrated by fluorescence in situ hybridization (FISH) analysis with a whole chromosome 12-paint probe. This image is of a partial metaphase cell also showing two normal chromosome 12 homologues. C Bicolor FISH analysis with a chromosome 12 centromere-specific probe (green) and MDM2 locus-specific probe (red) demonstrates MDM2 amplification in the ring chromosomes (arrows). This image is of a partial metaphase cell also showing two normal chromosome 12 homologues (red and green signals)
Fig. 4
Fig. 4
Chromosome probe examples and the interphase cell appearance of centromere- and locus-specific probes
Fig. 5
Fig. 5
A Low-grade fibromyxoid sarcoma (LGFMS) showing a cellular zone of predominantly rounded epithelioid-like cells. B Thin-walled, variably dilated cavernous spaces in a less cellular background
Fig. 6
Fig. 6
A Partial multifluor (M)-FISH and inverted 4.6-diamino-2-phenylindole (DAPI) image illustrating the chromosomal composition of the two supernumerary ring chromosomes. B Bicolor FISH with a FUS (16p11) spanning probe in Spectrum Green and a CREB3L2 (7q33) spanning probe in Spectrum Red demonstrates fusion of green and red signals (arrows) indicative of the t(7;16)(q33;p11) characteristic of low-grade fibromyxoid sarcoma
Fig. 7
Fig. 7
A, B Two examples of cytogenetic variant translocations in inflammatory myofibroblastic tumor
Fig. 8
Fig. 8
Ethidium-stained gel of reverse transcriptase-polymerase chain reaction (RT-PCR) results for a patient with suspected Ewing’s sarcoma. Total RNA was extracted from frozen tumor tissue and subjected to RT-PCR. M, DNA molecular weight marker (100-bp ladder); lane 1, patient sample with molecular variant fusion transcript 540 bp; lane 2, type II fusion transcript positive control 324 bp; lane 3, negative no template control
Fig. 9
Fig. 9
Neoplasm composed of vague fascicles of uniform, spindle-shaped cells with ovoid, pale-staining nuclei. Inset Neoplastic cells are immunohistochemically negative for MAK6 (cytokeratin)
Fig. 10
Fig. 10
Ethidium-stained gel of RT-PCR results for a patient with suspected synovial sarcoma. Total RNA was extracted from formalin-fixed, paraffin-embedded tissue and subjected to RT-PCR. M, A DNA molecular weight marker (100-bp ladder); lanes 1 and 2, patient sample run in duplicate is negative for a SS18/SSX1 fusion transcript; lane 3, SS18/SSX1 fusion transcript 110-bp positive control; lanes 4 and 8, negative no template control; lanes 5 and 6, patient sample run in duplicate is positive for a 110-bp SS18/SSX2 fusion transcript; lane 7, SS18/SSX2 fusion transcript 200-bp variant positive control
Fig. 11
Fig. 11
Flesh-toned synovial sarcoma mass measuring 4.4 cm in greatest dimension was deep to the flexor muscles and advanced along the intermuscular planes proximally
See this image and copyright information in PMC

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