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Bone & Joint Path II

Bone & Joint Path II

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Published by Diana Hylton
bones
bones

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Published by: Diana Hylton on Jul 19, 2013
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07/19/2013

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Malignant Bone Tumors
----
Musculoskeletal---
Week 2
Monday, August 08, 2011
Dr. Templeton & O’Neil
 
 
CASE 1: OSTEOSARCOMA
 
o
 
13 year old male who first notedonset of pain in his left proximaltibial metaphysis 4 months priorto X-rays. No history of trauma
o
 
X-rays:
Destructive processwithin L. proximal tibialmetaphysis.
o
 
Tc99 bone scan revealed
↑ uptake
in same general area.
o
 
CT of the chest was normal.
o
 
Labs
Normal
o
 
 
Diagnosis: Osteosarcoma
 
Most common primary malignant bonetumor
 
Bimodal age distribution (75% occurin pts < 20 yo)
 
Mutations in the genes encoding p53and RB
o
 
Pts with
hereditaryretinoblastomas
at 1,000x morelikely to develop osteosarcoma
 
Bone infarcts, chronic osteomyelitis,Paget disease, radiation, alsoassociated with a bone neoplasia
 
Develop at sites of greatest bonegrowth (metaphysis)
 
 
 
CASE 2: CHONDROSARCOMA
o
 
72 year old black female with achingdiscomfort in her right shoulder, worseat night. Duration of approximately sixmonths.
o
 
X-ray: expansile lesion replacing thehead of the right humerus, withcharacteristic punctate calcifications.
o
 
Bone scan shows intense uptake inregion of tumor.
o
 
Lab: no abnormal values
o
 
Diagnosis: Chondrosarcoma
o
 
40 years or older
o
 
Central skeleton
pelvis, shoulder, ribs
o
 
Malignant hyaline and myxoid cartilage
 
 
CASE 3: EWING’S SARCOMA
 
o
 
7 ½ year old female presented with one monthhistory of right shoulder pain. She noted an acuteexacerbation while trying to climb a fence on the dayprior to being seen in the office. She had beenrunning low-grade fevers for approximately a monthwithout chills.
o
 
X-ray: Permeative lesion involving diaphysis of humerus. Bone scan positive only in area of involvedbone. MRI showed extensive marrow involvement with possible involvement of the proximal growthplate and a surrounding soft tissue mass.
o
 
Diagnosis: Ewing’s sarcoma
 
o
 
“small/round blue cell tumor”
 
o
 
Most patients are < 20 years old
o
 
Pain, fever, leukocytosis (import differential isosteomyelitis)
o
 
Diaphysis of long bones
o
 
Sheets of small cells with inconspicuous cytoplasm
o
 
Ddx: Metastatic neuroblastoma, metastaticrhabdomyosarcoma, lymphoma
o
 
Ewing’s Sarcoma/PNET (peripheral neuroendocrine
tumor)
o
 
Similar phenotype, identical translocation
SAMETUMOR
differing by degree of neural differentiation
o
 
2
nd
most common bone tumor in children (2
nd
toosteosarcoma)
o
 
More common in Caucasians, slightly more commonin boys
o
 
Genetics
o
 
85% t (11;22)
o
 
5-10% t(21;22)
o
 
1% t(7;22)
o
 
In ALL cases there is fusion of the EWS gene onchromosome 22 to a member of the ETS family of transcription factors, most commonly FLI1
o
 
EWS-FLI1 fusion gene
 
acts as a dominant oncogene
constitutively active transcriptionfactor that stimulates cell proliferation
o
 
Treatment 
o
 
Chemotherapy and surgical excision +/- radiation
o
 
75% 5-yr survival, 50% long-term cure

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