Transcript Rhabdomyosarcoma Masquerade Syndrome

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.