Thangjam Nirvana, Dey Biswajit, Raphael Vandana, Mishra Jaya, Lynser Donboklang, Ghosh Tamajyoti, Kumar Sumit, Bhattacharjee Mainak
Pathology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences (NEIGRIHMS), Shillong, IND.
Radiology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences (NEIGRIHMS), Shillong, IND.
Cureus. 2024 Nov 15;16(11):e73742. doi: 10.7759/cureus.73742. eCollection 2024 Nov.
Atypical teratoid/rhabdoid tumors (AT/RTs) of the central nervous system (CNS) are rare and aggressive, typically occurring in early childhood or infancy, with adult cases being extremely rare. These tumors are associated with the inactivation of the integrase interactor 1 (INI1) gene. The prognosis is poor, worsening significantly if metastasis is detected at diagnosis. While CNS tumors rarely metastasize to cervical lymph nodes, recent findings have shown that such dissemination is possible, challenging the previously held belief that CNS malignancies do not spread via the lymphatic system. Awareness of this potential pathway is crucial for early diagnosis and avoiding unnecessary treatments. We present a case of a young adult male patient with a primary CNS AT/RT who had presented with cervical lymph node metastasis.
中枢神经系统(CNS)的非典型畸胎样/横纹肌样肿瘤(AT/RTs)罕见且具有侵袭性,通常发生于儿童早期或婴儿期,成人病例极为罕见。这些肿瘤与整合酶相互作用因子1(INI1)基因的失活有关。预后较差,如果在诊断时发现转移,预后会显著恶化。虽然中枢神经系统肿瘤很少转移至颈部淋巴结,但最近的研究结果表明这种播散是可能的,这挑战了之前认为中枢神经系统恶性肿瘤不会通过淋巴系统扩散的观点。认识到这种潜在途径对于早期诊断和避免不必要的治疗至关重要。我们报告一例原发性中枢神经系统AT/RT的年轻成年男性患者,该患者出现了颈部淋巴结转移。