Skeletal Radiol DOI 10.1007/s00256-014-1897-3

CASE REPORT

Extraskeletal myxoid chondrosarcoma arising in the femoral vein: a case report Naoki Oike & Akira Ogose & Hiroyuki Kawashima & Hajime Umezu & Shoichi Inagawa

Received: 21 February 2014 / Revised: 27 March 2014 / Accepted: 11 April 2014 # ISS 2014

Abstract Soft tissue tumors arising in deep veins of the extremities are uncommon, although a few cases of synovial sarcoma or leiomyosarcoma arising in the femoral vein have been documented. However, to the best of our knowledge, an extraskeletal myxoid chondrosarcoma (EMC) arising in the femoral vein has not been reported in the English literature. We report a case of EMC arising in the femoral vein of a 70year-old man who presented with right leg edema and was diagnosed with a deep venous thrombosis (DVT) by computed tomography (CT). Magnetic resonance imaging (MRI) revealed a mass in the right proximal thigh that was diagnosed as myxomatous sarcoma by aspiration cytology, and anticoagulant therapy was initiated. The mass was surgically resected en bloc, including the femoral vein and surrounding soft tissue, and the femoral artery was preserved. The femoral vein was not reconstructed. The histologic diagnosis was an extraskeletal myxoid chondrosarcoma. The patient received postoperative local radiation treatment, with a total dose of 60 Gy, and is currently doing well with no evidence of local recurrence or metastasis at 8 months after surgery. In summary, this case report shows that EMC can arise in the femoral vein, and that reconstruction of the femoral vein is not always necessary during surgery for soft tissue tumors.

Keywords Extraskeletal myxoid chondrosarcoma . Deep vein thrombosis . Soft tissue sarcoma

N. Oike (*) : A. Ogose : H. Kawashima Division of Orthopedic Surgery, Niigata University Graduate School of Medical and Dental Sciences, 757-1 Asahimachi-dori, Niigata 951-8510, Japan e-mail: [email protected]l.goo.ne.jp

A 70-year-old man presented with swelling and pain in his right leg. A physical examination revealed a swollen right leg and a 3×3-cm, non-tender, immobile mass in the right inguinal region. Computed tomography (CT) revealed a 5.0×3.5× 4.0-cm soft tissue mass that displayed inhomogeneous contrast enhancement. The mass had features that were suggestive of a soft tissue tumor involving the right superficial femoral vein (Fig. 1-a), with extension of the right superficial femoral vein thrombosis into the popliteal vein (Fig. 1-b). Magnetic resonance imaging (MRI) showed a mass in the right proximal thigh with low intensity on T1-weighted imaging and high and partially low intensity on T2-weighted imaging (Fig. 2). Gadolinium-enhanced T1-weighted fat-suppression images

H. Umezu Division of Pathology, Niigata University Graduate School of Medical and Dental Sciences, 757-1 Asahimachi-dori, Niigata 951-8510, Japan S. Inagawa Division of Radiology, Niigata University Graduate School of Medical and Dental Sciences, 757-1 Asahimachi-dori, Niigata 951-8510, Japan

Introduction Extraskeletal myxoid chondrosarcoma (EMC) is a rare, morphologically distinct, soft tissue sarcoma that is characterized by multinodular architecture and cords or clusters of chondroblast-like cells in an abundant backfround of myxoid matrix [1]. EMC usually arises in the deep soft tissue of proximal extremities [2]. However, to the best of our knowledge, an EMC arising in the femoral vein has never been reported in the English literature. Soft tissue tumors arising in the deep veins of the extremities are uncommon, although a few cases of synovial sarcoma and leiomyosarcoma arising in the femoral vein have been documented [3–5]. Here, we report a case of a 70-year-old man with EMC arising in the femoral vein, who presented with a right leg edema.

Case report

Skeletal Radiol Fig. 1 a Computed tomography (CT) revealing a 5.0×3.5×4.0-cm soft tissue mass with inhomogeneous contrast enhancement, and features suggestive of a soft tissue tumor involving the right superficial femoral vein (black arrow). b CT also showed the extent of the right superficial femoral vein thrombosis extending into the popliteal vein (arrow). SFA right superficial femoral artery; PFV right profunda femoris artery; PFA right profunda femoris vein

revealed a well-enhanced tumor in the superficial femoral vein (Fig. 3). Anticoagulant therapy was initiated, consisting of combined heparin and warfarin. The tumor was diagnosed as a myxomatous sarcoma by aspiration cytology. A permanent inferior vena cava filter was placed, and marginal resection was performed. At surgery, the tumor was found to be located just beside the superficial femoral artery with embolization in the superficial femoral vein. The tumor was adhered to the superficial femoral artery and needed to be carefully detached. The profunda femoris artery and vein were also identified and we attempted to detach them from the tumor as well. However, the profunda femoris vessels had adhered tightly to the tumor, and were therefore ligated just distal to where they branched from the superficial femoral vessels. The superficial femoral vein was ligated at the proximal and distal parts of the tumor and was not reconstructed. The tumor was

Fig. 2 a Magnetic resonance imaging (MRI) showing a mass with low intensity on T1weighted imaging in the right proximal thigh. b MRI showing a mass with high and partially low intensity on T2-weighted imaging

encased within the superficial femoral vein, and there were no distinct boundaries between them (Fig. 4). Histopathologically, the tumor had a multinodular architecture consisting of myxomatous areas that were demarcated by fibrous septa. Each nodule was composed of proliferating tumor cells and displayed a lace-like appearance with an abundant myxoid matrix. The proliferation of uniform, round tumor cells with oval nuclei was observed (Fig. 5). Mitoses were rare. Immunohistochemical analysis revealed that the tumor cells were positive for S-100 and negative for epithelial membrane antigen. Molecular genetic analysis by fluorescence in situ hybridization (FISH) revealed an EWSR1 gene rearrangement (Fig. 6). On the basis of these findings, a diagnosis of extraskeletal myxoid chondrosarcoma was made. Anticoagulant therapy with warfarin was resumed after surgery and will be continued permanently, because a permanent inferior vena cava filter was placed. The patient received

Skeletal Radiol Fig. 3 a Axial gadoliniumenhanced MRI revealing a wellenhanced tumor in the superficial femoral vein. b Coronal enhanced T1-weighted fat-suppression MRI revealing that the tumor was encased in the superficial femoral vein. SFV right superficial femoral vein

postoperative local radiation treatment with a total dose of 60 Gy, at 2 Gy per fraction. At the most recent follow-up, 8 months after surgery, no blood clot was found in the popliteal vein on CT. The patient no longer had severe leg edema and was in good health, with no evidence of local recurrence or metastasis.

Discussion EMC is relatively rare and has been estimated to account for only 3 % of soft tissue sarcomas [1]. It occurs more frequently in men than in women (at a 2:1 ratio) with 50 % of all cases

Fig. 4 a Macroscopically, the tumor had a gelatinous, grey to tan-brown surface (arrow) and appeared to arise from the wall of the superficial femoral vein. SFV right superficial femoral vein; PFV right profunda femoris artery; PFA right profunda femoris vein. b The tumor was encased in the superficial femoral vein (arrow), with no distinct boundary between them

occurring during the fifth or sixth decade of life [6]. EMC is difficult to distinguish from myxoid tumors, including myxomas, myxofibrosarcomas, and myxoid liposarcomas, based solely on histopathological and immunohistochemical findings. Myxomas exhibit a similar paucity of vascular structures but tend to be less cellular. Myxofibrosarcomas present with a similar fibrous septum and myxoid stoma but show a broad spectrum of cellularity and pleomorphism. Most myxofibrosarcomas are negative for S-100. Myxoid liposarcomas exhibit a marked plexiform vascular pattern and contain lipoblasts. S-100 positivity is noted in approximately 40 % of myxoid liposarcomas [7] and 50 % of EMCs [8], and thus is not helpful in distinguishing between them. MRI was found to be a helpful tool for characterizing the thrombus composition of these lesions because of the superior soft tissue contrast resolution [9]. Tumors showed an isointense signal on T1-weighted MRI and an isointense to hyperintense signal on T2-weighted MRI. Regions of hemorrhage typically appear as hyperintense signals on T1-weighted images [10]. Since there is a T2 shortening effect of blood breakdown products, bland thrombi generally show a low signal intensity compared with tumor thrombi [9]. These tumors usually show marked enhancement. In our case, the thrombus of the femoral vein had the same heterogeneously hyperintense appearance on T2-weighted images, and enhanced markedly on T1-weighted fat-suppression images. However, the thrombus of the popliteal vein was not enhanced on coronal T1-weighted fat-suppression images. Recent cytogenetic studies have demonstrated the distinct molecular nature of EMC, finding that it exhibits a unique and characteristic chromosomal translocation, typically t(9;22)(q22;q12.2), resulting in the fusion of EWSR1 to NR4A3 [11]. Therefore, we performed molecular genetic analysis by FISH on this case, and found that the tumor

Skeletal Radiol

Fig. 5 Histopathological examination. a Cross section of a partial superficial femoral vein. No capsule was observed between the tumor and the internal wall of the vein (arrows). b The tumor had a multinodular architecture that consisted of myxomatous areas demarcated by fibrous

septa. Each nodule was composed of proliferating tumor cells and showed a lace-like appearance (arrows) with abundant myxoid matrix (arrowheads). The proliferation of uniform, round tumor cells with oval nuclei was observed

was positive for the EWSR1 gene rearrangement, resulting in a diagnosis of EMC. EMC typically arises in the deep soft tissues of proximal extremities, with the lower extremity being the most common location. Furthermore, Olivera et al. reported that 43 % of cases that arose in the lower limbs affected the thigh [12]. However, to the best of our knowledge, EMC arising in the femoral vein has not been reported in the English literature. The tumor was encased in the femoral vein, with no distinct boundary between them, and we therefore concluded that the tumor originated in the superficial femoral vein. Soft tissue sarcomas arising in deep veins of the extremities are uncommon, although a few cases of synovial sarcoma

and leiomyosarcoma arising in the femoral vein have been documented [3–5]. Soft tissue sarcomas arising in the femoral vein should be considered in the differential diagnosis of patients with deep venous thrombosis. The optimal strategy for management of a venous sarcoma of the lower limb is difficult to establish because the incidence is low and most reports have been of single cases. Wide surgical excision with negative margins is the cornerstone of treatment for EMC [6]. However, in this case, myxoid liposarcoma was suspected prior to surgery, and a previous report demonstrated no major difference in the local recurrence rate between patients treated with a marginal resection and radiotherapy compared to those treated with wide surgical resection alone [13]. Hatano et al. reviewed 12 cases of myxoid liposarcoma treated with marginal or intralesional resection combined with radiotherapy and concluded that this combination treatment was sufficient to prevent local recurrence [14]. Thus, we performed a marginal resection. Kawai et al. reported that the majority of the reconstructed venous grafts clot fairly promptly [15]. Therefore we did not reconstruct the femoral vein in this patient, and, despite this, the patient did not develop severe leg edema after resection of the tumor. As such, we believe that reconstruction of the femoral vein is not always necessary during surgery for soft tissue tumors. The role of non-surgical treatment for EMC has not yet been well defined. Few reports to date have documented the clinical effects of chemotherapy for EMC [6]. Postoperative adjuvant radiation therapy is presently recommended [16], and in this case, we included postoperative local radiation treatment with a total dose of 60 Gy. The patient is currently doing well with no evidence of local recurrence or metastasis as of 8 months post-surgery. However Ogura et al. reported that the initial clinical behavior of EMC is indeed indolent but that the disease has a high

Fig. 6 Fluorescence in situ hybridization (FISH) was performed to detect the rearrangement of the EWSR1 gene using dual-color break-apart probes, which hybridize to the sequences flanking the most common break point in EWSR1. Spatial separation of the two differently colored probes indicates rearrangement of this gene. FISH analysis revealed a break-apart signal. Each cell shows one fused normal signal (yellow) and one break-apart showing separate Spectrum Green (arrows) and Spectrum Orange (arrowhead) signals, indicating a rearrangement of the EWSR1 gene

Skeletal Radiol

propensity for local recurrence and metastases over a longerterm period of 5 years or more [16]. We note that this case involves only a short follow-up period and that long-term follow-up is needed to be more certain of the outcome. In conclusion, this case demonstrates that EMC can arise in the femoral vein, and that soft tissue sarcomas arising in the femoral vein should be considered in the differential diagnosis of patients with deep venous thrombosis. Since the thrombosis rate is reported to be high in patients who undergo venous reconstruction, femoral vein reconstruction is not always necessary in the surgical intervention for soft tissue tumors.

Conflict of interest The authors declare that they have no conflicts of interest.

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Extraskeletal myxoid chondrosarcoma arising in the femoral vein: a case report.

Soft tissue tumors arising in deep veins of the extremities are uncommon, although a few cases of synovial sarcoma or leiomyosarcoma arising in the fe...
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