Khader Maher, Alhazaimeh Ruba, Jazazi Mais, Alrawabdeh Sura, Alalwan Ayat, Alkafawin Yara, Alhwayan Ayman, Almefleh Waseem, Alkhalaileh Hanadi, Alrawashdeh Haneen
Department of Paediatric Haematology and Oncology, Royal Medical Services, Queen Rania Children's Hospital, Amman, JOR.
Department of Pathology and Laboratory Medicine, Royal Medical Services, Princess Iman Center for Research and Laboratory, Amman, JOR.
Cureus. 2025 Mar 13;17(3):e80520. doi: 10.7759/cureus.80520. eCollection 2025 Mar.
Intrathoracic rhabdoid tumors in infants are rare and aggressive malignancies that pose significant diagnostic and therapeutic challenges. We report the case of a previously healthy six-month-old full-term infant admitted with severe respiratory distress and desaturation, requiring admission to the pediatric intensive care unit (PICU) and intubation. Initial evaluation suggested left upper lobe pneumonia, but the patient demonstrated minimal improvement with antibiotics and corticosteroids. Then a chest CT was done and revealed a large, heterogeneously enhancing pleural-based mass compressing the left lung, initially interpreted as an aggressive pleural tumor, such as bronchopleural blastoma. The findings led to the urgent initiation of chemotherapy, resulting in temporary clinical improvement that allowed for extubation and a biopsy to be taken. The initial biopsy indicated a germ cell tumor with yolk sac based on these immunohistochemical markers: SALL-4, cytokeratin, and vimentin. However, the patient's lack of a sustained response to chemotherapy and subsequent clinical deterioration prompted a repeat biopsy, which confirmed the diagnosis of an intrathoracic rhabdoid tumor. Despite aggressive multimodal therapy, the patient developed liver metastases five months after the initial diagnosis and was transitioned to palliative care. This case highlights the tumor's complex behavior and resistance to therapy, and underscores the diagnostic challenges associated with intrathoracic masses in infants, particularly the overlap between germ cell tumors and rhabdoid tumors.
婴儿胸内横纹肌样瘤是罕见且侵袭性的恶性肿瘤,带来了重大的诊断和治疗挑战。我们报告一例病例,一名此前健康的6个月足月婴儿因严重呼吸窘迫和血氧饱和度下降入院,需要入住儿科重症监护病房(PICU)并进行插管。初步评估提示左上叶肺炎,但患者使用抗生素和糖皮质激素后改善甚微。随后进行胸部CT检查,发现一个大的、不均匀强化的胸膜下肿块压迫左肺,最初被解释为侵袭性胸膜肿瘤,如支气管胸膜母细胞瘤。这些发现导致紧急开始化疗,临床暂时改善,得以拔管并进行活检。根据这些免疫组化标志物:SALL-4、细胞角蛋白和波形蛋白,初步活检显示为伴有卵黄囊的生殖细胞肿瘤。然而,患者对化疗缺乏持续反应且随后临床恶化,促使再次活检,确诊为胸内横纹肌样瘤。尽管采取了积极的多模式治疗,患者在初始诊断后5个月出现肝转移,转而接受姑息治疗。该病例突出了该肿瘤复杂的行为和对治疗的抵抗性,并强调了婴儿胸内肿块相关的诊断挑战,特别是生殖细胞肿瘤和横纹肌样瘤之间的重叠。