Yang Yihan, Chen Zhao, Qiu Yongkang, Cheng Jia, Na Ritai, Liu Min, Kang Lei
Department of Nuclear Medicine, Peking University First Hospital, Beijing, China.
Department of Respiratory Medicine, University of Hong Kong Shenzhen Hospital, Shenzhen, China.
Front Med (Lausanne). 2024 Dec 17;11:1474698. doi: 10.3389/fmed.2024.1474698. eCollection 2024.
Rhabdomyosarcoma (RMS), a rare pediatric soft tissue neoplasm, predominantly develops in late childhood and adolescence with no discernible gender bias. Alveolar rhabdomyosarcoma (ARMS) stems from mesenchymal cells and may develop most frequently in the trunk, extremities, and head/neck areas, while occurrences in the pelvic cavity are less frequent. The manifestation is typically characterized by a high rate of aggressive metastasis and a poor overall survival prognosis.
We present the case of an 11-year-old girl with ARMS initially presenting with a perianal mass. The diagnostic workup included MRI and PET/CT, which highlighted the tumor's aggressive nature and metastatic potential. Subsequent metastases to the pleura, lymph nodes, and, less frequently, to the bone were detected using 2-deoxy-2-[fluorine-18]-fluoro-D-glucose positron emission tomography combined with computed tomography (F-FDG PET/CT) imaging. The patient underwent a multi-regimen chemotherapy protocol but showed an incomplete response, indicating a poor prognosis.
This report presents a rare case of ARMS primarily located in the perianal region with multiple metastases, including the uncommon occurrence of bone metastasis, which illustrates the challenges in diagnosing and treating ARMS, emphasizing the need for accurate and early diagnosis, advanced imaging for disease assessment, and more effective treatment strategies. F-FDG PET/CT imaging highlights its preeminence in detecting multiple rare metastatic lesions. However, the persistent disease activity despite treatment highlights the need for further research into the biology of ARMS and the development of novel therapeutics to improve patient outcomes.
横纹肌肉瘤（RMS）是一种罕见的儿童软组织肿瘤，主要发生于儿童晚期和青少年期，无明显性别差异。腺泡状横纹肌肉瘤（ARMS）起源于间充质细胞，最常发生于躯干、四肢和头颈部，盆腔内较少见。其表现通常为侵袭性转移率高，总体生存预后差。
我们报告一例11岁患ARMS的女孩，最初表现为肛周肿块。诊断检查包括MRI和PET/CT，突出了肿瘤的侵袭性和转移潜能。随后，使用2-脱氧-2-[氟-18]-氟-D-葡萄糖正电子发射断层扫描联合计算机断层扫描（F-FDG PET/CT）成像检测到胸膜、淋巴结转移，较少见的还有骨转移。患者接受了多方案化疗，但反应不完全，提示预后不良。
本报告呈现了一例罕见的主要位于肛周区域且伴有多处转移的ARMS病例，包括罕见的骨转移，这说明了ARMS诊断和治疗的挑战，强调了准确早期诊断、先进成像用于疾病评估以及更有效治疗策略的必要性。F-FDG PET/CT成像突出了其在检测多处罕见转移病灶方面的卓越性。然而，尽管接受治疗仍存在疾病活动，这凸显了对ARMS生物学进一步研究以及开发新疗法以改善患者预后的必要性。
