ABSTRACT
Objective: To investigate the clinicopathological features and immunophenotype of inflammatory myofibroblastic tumor (IMT) and their relationship with IMT diagnosis and prognosis. Methods:A total of 11 IMT cases with follow-up were analyzed morpho-logically and immunohistochemically. Results:The patients included 6 men and 5 women aged 13-66 years. The tumors were found in various anatomical sites, including lung, mediastinum, liver, intra-abdominal, and bladder. Histologically, the majority of the cases com-prised spindled fibroblastic and myofibrobalstic cells accompanied by chronic inflammatory cells in a myxoid or hyalinized stroma;the rest were individual cases of abscess formation. Prognosis mala was indicated for cases with features including atypia tumor cells with two cases demonstrating epithelioid morphology and nucleoli. Immunohistochemical study showed that vimentin, ALK, SMA, S-100, CD117, and CD34 were expressed in 91%(10/11), 55%(6/11), 100%(11/11), 27%(3/11), 18%(2/11), and 9%(1/11) of IMT, respective-ly. Ki-67 was expressed from 3%-40%respectively. CK, H-caldesmon, and DOG1 were negative in all cases. Follow-up data were avail-able for 11 patients and ranged from 4 to 22 months. Data showed that 7 patients were alive with no evidence of disease;4 patients were alive with tumor, whereas 3 showed aggressive biological behavior. Conclusion:IMTs had intermediate behavior or malignant po-tential. Most IMTs with aggressive behavior showed a minority of tumor cells with atypia, epithelioid morphology, and nucleoli. High proliferation index expression, ALK, SMA, and H-caldesmon can aid in IMT diagnosis.
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Objective:To investigate the values of immunophenotype and the Collagen type1 alpha1/Proto-oncogene Proteins c-sis (COL1A1/PDGFB) fusion gene in the diagnosis of dermatofibrosarcoma protuberans (DFSP). Methods:IHC markers and the COL1A1/PDGFB fusion gene were detected by IHC staining and interphase fluorescence in situ hybridization (FISH) in 73 cases previously diagnosed as DFSP. A total of 85 and 10 non-DFSP cases were also included as controls for IHC staining and FISH, respectively. Results:In the 73 DFSP cases, the positive detection rates for immunohistochemical marker vimentin, CD34, CD99, S100, desmin and SMA were 100%, 91.78%, 61.64%, 0, 0, and 6.85%, correspondingly. Protein expression levels in these cases varied from the control group, and CD34 ex-pression was significantly different among the differential diagnoses. The positive detection rate for the COL1A1/PDGFB fusion gene was 86.96%(60/69), whereas the gene expression in the control group was negative. Conclusion:The COL1A1/PDGFB fusion gene is a highly specific and sensitive marker in the diagnosis of DFSP. CD34 is a suitable marker for DFSP.
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the frequency of USP6 gene rearrangement in nodular fasciitis (NF) and to evaluate its clinical application.</p><p><b>METHODS</b>Twenty nine cases of previously diagnosed NF were screened for the presence of the USP6 gene rearrangement by interphase fluorescence-in-situ hybridization (FISH) on formalin-fixed paraffin-embedded tissue. Fifteen of these cases, which had available tissue, were also analysed for MYH9-USP6 fusion transcripts by reverse transcription-polymerase chain reaction (RT-PCR).</p><p><b>RESULTS</b>Twenty four of the 29 cases (83%) were positive for the USP6 gene rearrangement by interphase FISH. The 15 cases with RT-PCR showed the following results: 11 positive, one deletion and three negative for USP6 gene rearrangement. Of these 15 cases, eight (8/15) showed MYH9-USP6 fusion transcript by RT-PCR. Of these eight cases, seven were positive for USP6 gene rearrangement and one showed USP6 deletion by FISH.</p><p><b>CONCLUSIONS</b>USP6 gene rearrangement is a recurrent genetic event in NF. It is a valuable ancillary tool for the pathological diagnosis of these lesions.</p>