Osteochondroma and Multiple

Hereditary Exostosis

Tumor Flashcards
David Ge, MD
 Introduction
 Benign
 Chondrogenic lesions derived from aberrant
cartilage from the perichondral ring
– Possible to Have:
 (1) Solitary Osteochondroma
 (2) Multiple Hereditary Exostosis = Multiple
Osteochondromas (Exostosis commonly defined as the
formation of new bone on the surface of a bone)
 Epidemiology
 MOST COMMON BENIGN BONE TUMOR
 Common in adolescents and young adults
 Occur on surface of bones, often at the sites of
tendon insertion
 Commonly on:
– Knee (Proximal Tibia/Distal Femur)
– Proximal Femur
– Subungual Exostosis (often at Hallux)
 Pathophysiology
 Solitary osteochondromas may arise due to:
– Salter Harris Fractures
– Surgery
– Radiation Therapy (MOST COMMON benign
radiation-induced bone tumor)
 Pathoanatomy
 Hamartomatous proliferation
of bone and cartilage
 Hamartoma – benign focal
malformation that resembles the
tissue of its origin
 May arise from growth plate
cartilage that grows through
cortex by endochondral
ossification under
periosteum
 Endochondral Ossification –
process where growing cartilage
systematically replaced by bone
 Pathoanatomy
 Perichondral Ring of
Ranvier defect might allow
growth from physis to
extend from surface
 Groove of Ranvier – fibrous
circumferential ring bridging
epiphysis to diaphysis, supplies
chondrocytes to periphery
 Stalk of lesion is both
cortical and cancellous bone
formed from ossified
cartilage
 Genetics
 Multiple Hereditary Exostosis
– Autosomal Dominant
 Mutation in EXT gene affects
prehypertrophic chondrocytes of growth
plate
 Loss of regulation in Indian Hedgehog
protein under investigation
 Multiple Hereditary Exostosis
 Caused by mutations in EXT1, EXT2, EXT3 genes (tumor
suppressor genes)
 EXT1 Mutations
– More severe presentation including:
 Higher rates of chondrosarcoma
 More Exostoses
 More Limb Misalignment with less forearm and knee
range of motion
 More pelvic and flatbone involvement
 Proximal lesions more likely to become malignant
 Associated Conditions
– Secondary Chondrosarcoma
 Malignant transformation of solitary
osteochondroma or MHE
– Risk of Transformation <1% in solitary
disease, ~5-10% in MHE
 Commonly:
– A Low Grade Tumor
– Occurs in older patients
– Occurs in the pelvis
Presentation - Osteochondroma
 Most are
ASYMPTOMATIC
 Symptoms
– Painless mass
– Mechanical symptoms or
symptoms of neurovascular
compression
– CONTINUE TO GROW
until skeletal maturity
 Presentation - MHE
 Limb Deformities
– Most common sites include: Knee,
Forearm, Ankle
 Femoral Shortening (Limb Length
Discrepancy)
 Coxa Valga
 Knee Valgus (Shortened Fibula) and
Patellar Dislocation
 Ankle Valgus (Shortened Fibula)
 Presentation - MHE
– Upper Extremity deformities well tolerated
 Ulnar Shortening
– Treat with ulnar lengthening/radial
closing wedge osteotomy
 Radial Bowing and Radial Head
Dislocation
– If acute onset of pain in adults with MHE 
suspect secondary chondrosarcoma
 Imaging
 Sessile (broad base) OR Pedunculated (narrow
stalk) on surface of bones
– Sessile lesions higher risk of malignant
transformation
– Pedunculated lesions point AWAY from joint
 Continuity with native tissue
– Cortex and Medullary Cavity
 Cartilage cap usually radiolucent and involutes
at skeletal maturity
 CT or MRI to better characterize
 Histology
 Similar to normal physis with:
– Cartilage Cap (Hyaline cartilage)
 2-3 cm thick
 Thick caps imply growth, but do
not tell us about malignant potential
IN CHILDREN
 In adults CONCERNED about
thick caps
– Well-Defined Perichondrium around
the cartilage cap
– Normal primary trabeculae
– Linear clusters of active chondrocytes
 Treatment
 Solitary Lesions
– (A) Observation (if asymptomatic or mild)
– (B) Marginal Resection at Base of Stalk (Including Cartilage
Cap)
 Lesions causing inflammation, lesions with poor cosmesis
 Surgery should be DELAYED until skeletal maturity
 Multiple Lesions
– (A) Observe
– (B) Surgical Excision
 Dislocated radial heads, loss of forearm rotation
 Secondary Chondrosarcoma
– Wide surgical resection
 Complications
 Vascular Complications  Tendon Compression
– Pseudoaneurysm of – Particularly around
popliteal artery shoulder (Rotator Cuff
Impingement, Bicipital
– True Aneurysms Tendinitis)
– Arterial/Venous  Chondrosarcoma
Thromboses – In ADULTs, caps >2cm
 Nerve Compression associated with increased chance
of malignancy
– Sciatic, Common  Bursa Formation
Peroneal, Radial
 Recurrence (2-5% after
resection)
Bonus Slide

5/22/20
 Abstract Summary
• Double-blind randomized placebo controlled trial
of IV remdesivir in adults hospitalized w/ COVID-
19 (n=1063):
• 200mg loading dose on day 1 then 100mg
daily for 9 days (n=538) vs. placebo up to 10
days (n=521)
• Remdesivir superior to placebo in shortening
time to recovery
• 11 days vs. 15 days (1.32, 95% CI 1.12-1.55,
p<.001)
• Mortality 7.1% vs. 11.9% (HR 0.7, 95% CI 0.47-
1.04)
Bonus Slide
Practice Question #1
 Question #1 - Explanation
 Choice 3
 Secondary transformation of osteochondroma
to chondrosarcoma is VERY rare, but when it
does occur, it results in a LOW GRADE
TUMOR (~90%) that can usually be cured with
surgery alone
– Choice 1 – the cartilage cap is usually 1-3 cm in
children (compare to adults < 2cm)
Practice Question #2
 Question #2 - Explanation
 Choice 5
 MHE is AUTOSOMAL DOMINANT with
mutations in EXT 1, 2 and 3.
– EXT tumor suppressor genes function to glycosylate
indian hedge-hog (a key signaling molecule
produced by perhypertrophic chondrocytes allowing
unregulated growth)
– Exostoses are in DIRECT connection to medullary
cavity and always grow AWAY from the physis