Rhabdomyosarcoma Masquerade Syndrome LC Clarke, RS Thampy, R Ajit, L Irion, R Bonshek, S Ataullah, B Leatherbarrow Manchester Royal Eye Hospital Rhabdomyosarcoma • Most common primary orbital malignancy of childhood. • Presenting signs may mislead the unsuspecting clinician • We present a series of five consecutive patients referred to Manchester Royal Eye Hospital over the course of the last 2 years, each with a different initial diagnosis. • We highlight how rhabdomyosarcoma may mimic other orbital disorders, leading to a potentially life threatening delay in appropriate management. • Occurs at sites of embryonic tissue fusion • Head ,neck, midline Classification related to prognosis Botyroid and spindle: Best Embryonal : intermediate Alveolar and pleomorphic :poor Features of Striated muscle differentiation • Bright cytoplasmic eosionophilia +/- cross striations • Immuno Panel; – MyoD1(nuclear staining) – Desmin – Myogenin and myoglobin Case 1 • FP – age 9 years. 2 week hx of right inferior fornix lesion • “Conjunctival papilloma” CT orbit Axial View with contrast Lesion at right medial canthus H&E Spindle to round, pleomorphic tumour cells Immunohistochemical analysis a) Squamous papilloma-like appearance of at the time of biopsy. b) Histology showing round and spindle-shaped cells with mitoses. c) Demonstration of cell positivity for desmin. d) (d) Conjunctival squamous papilloma. • Local recurrence following chemotherapy 2 years prior. • Orbital exenteration, further chemo & radiotherapy • Recurrence in exenterated orbit • RIP 2010 (6 years post presentation) Case 2 • LB – age 10 years. 4 week hx of swelling right eye • “Orbital cellulitis” CT orbit Axial View with contrast CT - Upper lid local disease H&E H&E – Diffuse infiltration by poorly differentiated tumour cells • Surgical debulking &chemotherapy - good response Case 3 • LR – age 10 years. 1 week hx of right proptosis and diplopia. • “Langerhans cell histiocytosis” MRI Orbit Axial MRI - Mass in lateral orbital wall and temporal fossa H&E Diffuse infiltration by poorly differentiated tumour cells • • • • Bone marrow mets. Chemo and radiotherapy – ongoing Lagophthalmos. Persistent ocular surface problems Case 4 • JB – age 5 years. 2 month hx of progressive right ptosis • “Upper lid chalazion” CT Orbits Axial View CT - Upper lid local disease H&E Alveolar rhabdomyosarcoma. Clear cell component to the right • Surgical debulking &chemotherapy - good response Case 5 LG – age 11 years. 3 week hx of right upper lid swelling “Eyelid papilloma” CT Orbits Axial View CT - Thickening of upper lid & regional lymphadenopathy H&E H&E – Area of alveolar architecture. Note stretched surface epithelium. • Surgical debulk, chemo and radiotherapy • A high index of suspicion • Following treatment, local tumor recurrence occurs in 18% of cases, metastasis in 6%, and death in 3%. – paediatric patient – history of rapidly progressive orbital , eyelid or conjunctival lesion. • The diagnosis of rhabdomyosarcoma should considered until proven otherwise – to avoid unnecessary delays in diagnosis – expedite appropriate management, – optimize the outcome for this group of patients.