Head & neck imagingCase Type
Héber Samuel Colares Costa¹, Pedro Neves Paiva de Castro¹, Caio Tasso Rego¹, Roberto Queiroz dos Santos¹, Anna Patrícia Riello¹, Dequitier Carvalho Machado¹, Flavia Cotia Vasconcellos²Patient
12 weeks, female
A 12-week-old female was hospitalized for investigation of a right eyelid tumour. She already had only a small lesion initially diagnosed as benign at birth. However, after 12 weeks, the clinical examination evidenced a voluminous tumour with an exophytic aspect and ulceration superimposed on the right eye.
Magnetic resonance imaging (MRI) demonstrated heterogeneous expansive formation in the right pre-orbital region adjacent to the upper eyelid. Post-contrast 3DT1 (Fig. 1) showed heterogeneous contrast enhancement with necrotic areas. Sagittal T2 with fat suppression (Fig. 2) demonstrated a predominantly isointense lesion with necrotic areas and small flow voids. SWI (Fig. 3) showed haemorrhagic foci throughout the lesion. In addition, DWI and ADC map (Figs. 4 and 5) evidenced restricted diffusion due to the hypercellular behaviour of the lesion.
Chest and abdomen imaging showed no other lesions. However, after worsening the ocular opening, a biopsy was indicated, which diagnosed an extrarenal rhabdoid tumour. The patient underwent chemotherapy with vincristine, cyclophosphamide, and doxorubicin. After five weeks, computed tomography (CT) showed a critical reduction of the lesion volume (Fig. 6).
The extrarenal malignant rhabdoid tumour (EMRT) is a rare aggressive and rapidly growing tumour of childhood . It can occur in the central nervous system and soft tissues, even more rarely on the orbit [1,2]. Diagnosis is challenging due to low incidence, reported as 0.6/1 million children , and may simulate other diseases, including rhabdomyosarcoma, the most common extraocular orbital tumour in children, haemangioma, and lymphangioma. Rhabdomyosarcoma is characterised by fast and infiltrative growth, frequently involvement of adjacent bone and significant vascularisation. Haemangioma is very vascularised, rapidly proliferates and have a slow involution. As it matures, fibrofatty tissue is gradually switched and is recognised on MRI by finding flow voids at its periphery and within [4,5].
Another differential diagnosis is lymphangioma, typified by non-enhancing cystic lymphatic and enhancing solid venous components, is unencapsulated and crosses tissue planes. Differently from haemangiomas, it grows slowly, and spontaneous involution is uncommon. In addition, infantile fibromatosis typically presents a zonal distribution of cells and is prone to central haemorrhage, necrosis, or fibrosis, which present a typical target sign at imaging, and it may contain calcifications. The lesions generally stop growing or involve [4,5]. Also, an orbital abscess should be excluded, typically exhibited as a peripherally enhancing fluid collection, with central restricted diffusion .
Image methods cannot precisely differentiate those diseases in the early stage. However, the distinctive imaging appearances of these pathologies may aid in diagnosis and guide their management. The final diagnosis is based on immunohistochemical/molecular findings. Recent advances in genetics have revealed alterations in the SMARB1/INI1 gene with loss of INI1 expression, pathognomonic of the rhabdoid tumour [7,8,9,10].
Treatment is ineffective, and the prognosis is unfavourable compared to others childhood cancers; mortality reaches 80% [11,12]. In most cases, surgical resection is combined with radiotherapy and chemotherapy; however, 1-year survival was merely 31% . Radical surgical resection is associated with a 74% increase in overall survival . The European Paediatric Soft Tissue Sarcoma Study Group (EpSSG) recommends a multimodal treatment including surgery or biopsy, chemotherapy, and radiotherapy . Nevertheless, local recurrence and distant metastasis are frequent [11,12]. This case showed a critical reduction of lesion volume after the EpSSG chemotherapy protocol.
This case highlights the importance of including EMRT in analysing paediatric orbital lesions and recognising other differentials diagnoses. Careful examination, image findings, and immunohistochemistry/molecular study are crucial to prevent diagnostic delay.
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