Wang Scott K, Mannam Prabhath, Dukleska Katerina, Balarezo Fabiola
Pathology and Laboratory Medicine, Hartford Hospital, Hartford, USA.
Medicine, University of Connecticut, Hartford, USA.
Cureus. 2024 Apr 15;16(4):e58337. doi: 10.7759/cureus.58337. eCollection 2024 Apr.
A congenital disseminated malignant rhabdoid tumor (MRT) is an exceedingly rare and aggressive pediatric cancer marked by the presence of malignant rhabdoid cells in various organs, including the brain, kidneys, and soft tissues, at birth. It is often detected prenatally or shortly post-birth. The malignancy's aggressiveness results in a bleak prognosis, offering limited treatment options and low survival rates. Early diagnosis and comprehensive medical intervention are crucial, but managing this condition is complicated by its rarity. We herein presented a case of a 37 and 1/7 week gestation male infant with a rapidly growing arm soft tissue mass within two weeks, diagnosed as an MRT. Post-delivery examinations revealed multiple lesions in the lungs, kidney, liver, and adrenal glands. Notably, chemotherapy yielded a significant improvement in the arm lesion, contrasting with other lesions showing a limited response. This observation suggests potential tumor heterogeneity, emphasizing the necessity of diverse therapeutic regimens. Our case underscores the complexities of congenital disseminated MRT, prompting a reevaluation of treatment strategies for enhanced efficacy in managing this challenging pediatric cancer.
先天性播散性恶性横纹肌样瘤（MRT）是一种极其罕见且侵袭性强的儿科癌症，其特征是出生时在包括脑、肾和软组织在内的各种器官中存在恶性横纹肌样细胞。它通常在产前或出生后不久被检测到。这种恶性肿瘤的侵袭性导致预后不佳，治疗选择有限且生存率低。早期诊断和全面的医学干预至关重要，但由于其罕见性，管理这种疾病很复杂。我们在此报告了一例妊娠37又1/7周的男婴，其手臂软组织肿块在两周内迅速生长，被诊断为MRT。分娩后检查发现肺部、肾脏、肝脏和肾上腺有多处病变。值得注意的是，化疗使手臂病变有显著改善，与其他病变反应有限形成对比。这一观察结果提示了潜在的肿瘤异质性，强调了采用多种治疗方案的必要性。我们的病例强调了先天性播散性MRT的复杂性，促使重新评估治疗策略以提高治疗这种具有挑战性的儿科癌症的疗效。
