Khan Salman, Yetiskul Ekrem, Niazi Muhammad, Zeb Khan Malik Waleed, Pokima Ngowari, Khattar Georges, Terjanian Terenig
Internal Medicine, Staten Island University Hospital, New York, USA.
Medicine, Khyber Medical University, Peshawar, PAK.
Cureus. 2024 May 6;16(5):e59742. doi: 10.7759/cureus.59742. eCollection 2024 May.
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.
隆突性皮肤纤维肉瘤（DFSP）是一种低至中级别真皮软组织恶性肿瘤（肉瘤），局部复发率高但转移潜能低。DFSP的特征是梭形细胞束均匀，典型地呈车辐状排列，且CD34免疫反应阳性。大体检查时，DFSP通常表现为白色或黄色软组织肿块，外表面光滑，边界不清。在本研究中，我们报告了一例发生纤维肉瘤变的DFSP病例，这是DFSP中一种罕见但广为人知的现象，与DFSP患者不良预后风险增加相关。一名45岁男性因左肩肿块逐渐增大就诊，最初怀疑是脂肪瘤，但诊断为DFSP纤维肉瘤变。进行了手术切除，随后在肺结节中发现转移性肉瘤。机器人辅助胸腔镜切除了结节，证实为具有侵袭性行为的转移性肉瘤。尽管辅助治疗计划为阴性，但患者仍接受影像学监测，近期扫描未显示复发。计划继续由医学肿瘤学和外科肿瘤学进行随访。DFSP是一种罕见的软组织肉瘤，除纤维肉瘤变病例外，其生长缓慢且转移潜能低。从分子角度来看，DFSP由可被伊马替尼治疗靶向的COL1A1-PDGFB融合转录本定义。治疗包括广泛手术切除，部分病例采用辅助放疗。切缘接近或阳性的病例可采用放疗，而传统化疗效用有限。多学科协作对于优化管理至关重要。总体而言，该病例凸显了诊断和管理像纤维肉瘤变DFSP这样的侵袭性肉瘤的挑战，强调了在优化患者预后方面进行 vigilant监测和多学科协作的重要性。需要进一步研究以了解纤维肉瘤变的潜在机制，并探索针对这种具有挑战性的恶性肿瘤的新治疗途径。
