PDF(Pubmed)
Abstract：
Dermatofibrosarcoma protuberans (DFSP) is a low- to intermediate-grade dermal soft tissue malignant tumor (sarcoma) with a high local recurrence rate but low metastatic potential. DFSP is characterized by uniform spindle cell fascicles arranged classically in a storiform pattern and by CD34 immunoreactivity. On gross examination, DFSP usually manifests as a white or yellow soft tissue mass with a smooth outer surface and poor circumscription. In this study, we report a case of DFSP with fibrosarcomatous transformation, a rare but well-known phenomenon encountered in DFSP that is correlated with an increased risk of adverse outcomes in patients with DFSP. A 45-year-old male presented with a progressively enlarging lump on his left shoulder, initially suspected of being a lipoma but diagnosed as a fibrosarcomatous transformation of DFSP. Surgical resection was performed, with the subsequent identification of metastatic sarcoma in pulmonary nodules. Robotic-assisted thoracoscopy excised the nodules, confirming metastatic sarcoma with aggressive behavior. Despite negative adjuvant treatment plans, the patient remains under surveillance with imaging, showing no recurrence in recent scans. Continued follow-up with medical and surgical oncology is planned. DFSP is a rare soft tissue sarcoma characterized by indolent growth and low metastatic potential, except in fibrosarcomatous transformation cases. Molecularly, DFSP is defined by a COL1A1-PDGFB fusion transcript that is targetable with imatinib therapy. Treatment involves wide surgical resection, with adjuvant radiation therapy in select cases. Radiation therapy may be employed in cases with close or positive margins, while conventional chemotherapy has limited utility. Multidisciplinary collaboration is crucial for optimal management. Overall, this case underscores the challenges in diagnosing and managing aggressive sarcomas like fibrosarcomatous DFSP, emphasizing the importance of vigilant surveillance and multidisciplinary collaboration in optimizing patient outcomes. Further research is needed to understand the mechanisms underlying fibrosarcomatous transformation and to explore novel therapeutic avenues for this challenging malignancy.
摘要：
隆突性皮肤纤维肉瘤（DFSP）是一种低级至中级真皮软组织恶性肿瘤（肉瘤），具有高局部复发率，但转移潜力低。DFSP的特征是均匀的梭形细胞束以典型的细胞形态排列，并具有CD34免疫反应性。粗略检查，DFSP通常表现为白色或黄色软组织块,具有光滑的外表面和较差的界限。在这项研究中,我们报告一例DFSP伴纤维肉瘤转化，DFSP中出现的罕见但众所周知的现象与DFSP患者不良结局风险增加相关.一名45岁的男性左肩肿块逐渐扩大，最初怀疑是脂肪瘤，但诊断为DFSP的纤维肉瘤转化。进行了手术切除，随后鉴定了肺结节中的转移性肉瘤。机器人辅助胸腔镜切除结节，证实转移性肉瘤具有攻击行为。尽管有负面的辅助治疗计划，患者仍处于影像监测之下,在最近的扫描中没有显示复发。计划继续对内科和外科肿瘤学进行随访。DFSP是一种罕见的软组织肉瘤，其特征是缓慢生长和低转移潜能，除了纤维肉瘤转化病例。分子上，DFSP由可通过伊马替尼治疗靶向的COL1A1-PDGFB融合转录物定义。治疗涉及广泛的手术切除，在选择的病例中进行辅助放射治疗。放射治疗可用于边缘接近或阳性的病例，而常规化疗的效用有限。多学科协作对于优化管理至关重要。总的来说,该病例强调了诊断和治疗侵袭性肉瘤如纤维肉瘤DFSP的挑战，强调警惕监测和多学科合作在优化患者预后方面的重要性。需要进一步的研究来了解纤维肉瘤转化的潜在机制，并探索这种具有挑战性的恶性肿瘤的新治疗途径。
