Head and neck Flashcards
Most common childhood soft tissue sarcoma?
Rhabdomyosarcoma.
Most common benign orbital mass in childhood?
Desmoid.
Most common extra-ocular orbital malignancy in children?
Rhabdomyosarcoma.
Age of presentation or rhabdomyoscaroma?
Most of them (70%) <12 years.
Les frequently (40%) < 5 years.
Describe histological subtypes of rhabdomyosarcomas
4 histological subtypes:
-Embryonal RMS (50%): most common, young children (mutation in 11p15locus). 70-90% affecting H&N or genitourinary tract.
(BOTRYOIDES variant: typically in 2-5 years of age, develops in the walls of hollow, mucosal lined structures such as nasopharynx, common bile duct, bladder and vagina. Has the most favourable prognosis)
-Alveolar RMS (20%): 2nd most common; 15-25 years, adolescence. Most common in extremities and trunk. 50% have FOX01 to PAX3 (or PAX7) gene fusion (better prognosis)
-Pleomorphic RMS (20%): Least common; 40-60 years. Adults. Extremities (rarely in H&N). Often fatal.
-Spindele cell/sclerosing (10%): affects all ages.
Epidemiology of rhabdomyosarcoma
-Most common childhood soft tissue sarcoma (most common extra ocular orbital malignancy)
-Age presentation < 12 years (70%) / < 5 years (40%).
-Most common in Caucasian.
-40-50% occur in H&N (most commonly in orbit, sinus (parameningeal sites, and other)), genitourinary tract (25%), extremities (15%), other (10%)
Frequent sites of affection of rhabdomyosarcoma
40-50% H&N
25% genitourinary (bladder, vagina, prostate)
15% extremity
10% other (common bile duct)
Syndromes and conditions associated with rhabdomyosarcoma
Increase incidence of RMS in:
Noonan syndrome,
neurofibromatosis type 1,
Li-Fraumeni,
Beckwith-Wiedemann,
hereditary retinoblastoma.
May occur as radiotion-induced 2nd primary neoplasm.
Complications of rhabdomyosarcoma
Intracranial extension (up to 50%)
Perineural spread
Metastasis (20%) to lungs and bone marrow.
Diagnosis clue for rhabdomyosarcoma
Clue: invasive soft tissue mass with variable enhancement.
* CT: Invasive soft tissue mass with variable enhancement
Osseous erosion common but not seen in all cases (in 20%)
* MR: T2FS, Stir: Isointense T1, hyperintense T2 signal relative to muscle (Not “fluid bright” unless necrotic/cystic components)
T1 C+ FS: Variable contrast enhancement, often mild to moderate (Diffuse, intense enhancement atypical)
Often restricts diffusion
* PET/CT: hypermetabolic (improve staging and posttreatment evaluation).
Most common primary intraocular neoplasm in childhood
Retinoblastoma
Path behind retinoblastoma (genetics)
Mutation of the retinoblastoma gene (tumor suppressor gene in Ch13)(lack of both alleles)
Describe incidence of bilateral vs unilateral retinoblastoma and genetic background
Unilateral = 60%. Sporadic somatic mutation of both alleles of RB1.
Bilateral= 40%. AD, involves a hereditary germinal mutation of RB1 + sporadic mutation of the other copy.
CT appearance of retinoblastoma
> 90% presents calcium deposits within irregularly thickened retina.
Heterogeneous post contrast enhancement.
MR appearance of retinoblastoma
T1 slightly hyper to vitreous
T2 slightly hypo to vitreous.
Post con: heterogeneous enhancement
Associations when bilateral retinoblastoma
-Trilateral: bilateral RB +mid line intracranial tumor (pineal tumor)
-Quadrilateral: bilateral RB + mid line intracranial tumor +/- suprasellar tumor
-All of them at reisk of other germ line malignancies: sarcoma, melanoma, CNS tumor, epithelial (lung, bladder, breast)
Growth morphology of retinoblastoma
-Endophytic 45%, inwards protrusion into vitreous
-Exophytic, 45%, outwards into subretinal space, associated with retinal detachment and subretinal exudate.
-Mixed 10%
-Diffused infiltrating form (rare), plaque like growth, often no Ca+
Invasion rout of retinoblastomas
Extraocular extension in < 10% of cases :
-choroidal invasion: localized thickened and heterogeneous contrast enhancement near tumor
-Scleral invasion: interruption in thin, hypointense zone surrounding enhancing choroid.
-Optic nerve invasion: thickening of optic disk (prelaminar), enhancement of nerve (post laminar)
Diagnostic methods of retinoblastoma
-Opthalmoscopy
-Ultrasound (A and B scan)
-CT (Ca+)
-MR (mapping and prognostication)
Differential diagnosis of retinoblastoma
-Persistent hyperplastic primary vitreous
-Coat’s disease
-Toxocariasis
-Retinopathy of prematurity
-Coloboma
-Other causes of leucocoria (retinal detachment)
Most common retinal pathologies
Retinoblastoma (childhood)
Hemangioblastoma (adult)
Detachment (diabetic retinopathy)
Most common choroid pathologies
Melanoma
Metastases (since it is the most vascular structure in the eye)
Detachment.
Most common sclera pathologies
Infection
Pseudotumour
Detachment
Path of Persistent hyperplastic primary vitrous
Congenital developmental malformation due to incomplete/failure of hyaloid regression, causing remnant to persist in Cloquet canal (should involute by 8th months)
Most cases isolated and sporadic.
Dominance and recessive forms described.