PMC2841250_01
Clinical findings at diagnosis. Note the bulky mass of the shoulder with collateral circulation (a). MRI (T1 gadolinium sequences) shows a heterogeneous tumor infiltrating muscles and subcutaneous tissue (b).
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Mobilization of the arm was almost impossible due to both pain and stiffness (Figure 1(a)).A shoulder MRI revealed a 12 x 6 cm irregular, heterogeneous mass of the posterior part of the shoulder (Figure 1(b)).
Clinical response after Imatinib therapy: Recovery of the whole curving contour of the shoulder, with decrease of collateral circulation (a). MRI findings: T1 gadolinium sequences confirming the tumor very good partial response with disappearance of tumor-related hypersignal (b).
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The treatment was finally stopped at month 34, in the setting of tumor regression, complete recovery of arm mobility and function and complete discontinuation of analgesics (Figure 2(a)). Control MRI of the shoulder confirmed the very good partial response (Figure 2(b)).
KIT exon 10 point mutation 1609 G A (resulting in the amino-acid substitution V530I).
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ABI PRISM 3100 Genetic Analyser (Applied Biosystems, Forster city, CA). The sequences were aligned with the GB sequence of human CKIT (locus HSU63834) using the software Seqscape v2.5 (Applied Biosystems, Forster city, CA). All sequencing reactions were performed in both forward and reverse directions, and the mutation was confirmed by a second sequencing on an independent PCR, revealing a V530I mutation in the transmembrane domain of c-kit (Figure 3).