RESUMEN
Purpose: To evaluate the diagnostic yield of ultrasonography (US)-guided core needle biopsy (CNB) in the diagnosis of soft tissue tumors (STTs) and to analyze the failure factors. Methods: 139 patients with STTs that underwent both US-guided CNB and surgical resection were collected retrospectively. Compared with the histopathological results of surgical resection, the biopsy failure was defined as the following conditions: indefinitive diagnosis, including insufficient samples and unknown subtypes with correct biological potential classification; wrong diagnosis, including wrong biological potential classification and wrong subtypes with correct biological potential classification. Univariate and multivariate analyses from the perspectives of histopathological, demographic and US features together with biopsy procedures were performed to determine risk factors for diagnostic failure. Results: The diagnostic yield of US-guided CNB for STTs in our study was 78.4%, but when only considering the correct biological potential classification of STTs, the diagnostic yield was 80.6%. The multivariate analysis showed that adipocytic tumors (odds ratio (OR) = 10.195, 95% confidence interval (CI): 1.062 - 97.861, p = 0.044), vascular tumors (OR = 41.710, 95% CI: 3.126 - 556.581, p = 0.005) and indeterminate US diagnosis (OR = 8.641, 95% CI: 1.852 - 40.303, p = 0.006) were correlated with the diagnostic failure. The grade III vascular density (OR = 0.019, 95% CI: 0.001 - 0.273, p = 0.007) enabled a higher diagnostic accuracy. Conclusion: US-guided CNB can be an effective modality for the diagnosis of STTs. The diagnostic yield can be increased when the tumor vascular density was grade III in Color Doppler US, but can be decreased in adipocytic tumors, vascular tumors and masses with indeterminate US diagnosis.
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ALK rearrangements have rarely been reported in S100- and CD34-co-expressing soft tissue neoplasms with lipofibromatosis-like neural tumor (LPFNT) pattern or stromal and perivascular hyalinization, mimicking NTRK-rearranged spindle cell tumors. Here, we reported ALK fusions involving related partner genes in two adult soft tissue tumors with S100 and CD34 co-expression, and conducted a literature review of mesenchymal tumors harboring ALK or other kinase fusions. Case 1 was a 25-year-old female who underwent excision of a soft tissue mass in the anterior thigh region. Morphologically, the tumor was composed of spindle cells adjacent to epithelioid cells embedded in myxedematous and hyalinized stroma, with infiltrative boundary. Spindle cells mixed with inflammatory infiltration resembling inflammatory myofibroblastic tumor (IMT) were seen sporadically. However, brisk mitosis and focal necrosis was also observed, indicating an intermediate-grade sarcoma. In case 2, the left side of the neck of a 34-year-old man was affected. The tumor was composed of monomorphic spindle cells arranged in fascicular growth or patternless pattern, with stromal and perivascular hyalinization. Sparse inflammatory cell infiltration was also observed. Both tumors showed CD34, S100, and ALK-D5F3 immunoreactivity. Next generation sequencing (NGS) test identified a PLEKHH2::ALK fusion in case 1, which was confirmed by RT-PCR and Sanger sequencing, whereas the RT-PCR (ARMS method) test detected an EML4::ALK fusion in case 2. In conclusion, this study expands the morphological and genetic landscape of tumors with S100 and CD34 co-expression harboring kinase fusions, and suggests that kinase fusion-positive mesenchymal neoplasms are becoming an enlarging entity with a variety of morphological patterns.
RESUMEN
Recently, a novel group of spindle cell tumors defined by S100 and CD34 co-expression harboring recurrent fusions involving RET, RAF1, BRAF, and NTRK1/2 gene has been identified. Morphologically, they are characterized by monomorphic neoplasm cells, "patternless" growth pattern, stromal, and perivascular hyalinization, lacked necrosis. We reported a 52-year-old Chinese female patient with a S100 and CD34 co-expression sarcoma presenting in the right proximal forearm. The forearm mass initially emerged 19 months ago when it was misdiagnosed as a solitary fibrous tumor and was surgically removed without further treatment. Microscopically, the primary and the recurred tumors share the same features, resembling the morphology of the recently characterized group. Nevertheless, some distinct features, such as predominantly epithelioid tumor cells and focally staghorn vessels, were also present in our case. Genomic profiling with clinical next-generation sequencing was performed and revealed CDC42SE2-BRAF gene fusion, MET amplification, and CDKN2A/B deletion. Both FISH and nested RT-PCR were performed to confirm the gene fusion. The patient was treated with crizotinib for two cycles but showed no obvious benefit. The presented case adds to the spectrum of the novel, characterized solid tumors, and provides suggestions for emerging therapeutic strategies for precision medicine involving targeted kinase inhibitors.