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36 Cards in this Set
- Front
- Back
associated with painful scoliosis? |
osteoid osteoma |
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pain with osteoid osteoma attributed to? |
increased prostaglandin E2 and COX 1/2 expression |
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Rothmund Thomson syndrome |
- AR inheritance - mutation in RECQL4 gene, chr 8q24.3 - sun-sensitive facial poikiloderma rash - increased risk of osteosarcoma, fibrosarcoma, gastric adenocarcinoma, cutaneous BCC/SCC |
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gene associated with osteosarcoma |
retinoblastoma tumor suppressor gene (Rb): predisposed to osteosarcoma |
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chromosome findings with parosteal osteosarcoma |
high rate MDM2 amplification and ring chromosome |
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mutation in periosteal osteosarcoma |
germ-line mutation of p53 in 15-20% of cases |
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telangiectatic osteosarcoma associated with the following mutations: |
Rb-1 p53 HER2/neu c-myc c-fos |
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enchondroma is caused by? |
abnormality of chondroblast function in the physis |
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Ollie's disease |
- sporadic inheritance - skeletal dysplasia with failure of normal endochondral ossification - enchondromas throughout the metaphysis and diaphysis of long bones, causes shortening and bowing - risk of malignant transformation <30% |
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multiple enchondromatosis also known as: |
Ollie's disease |
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Maffucci's syndrome |
- sporadic inheritance
- multiple enchondromas and soft-tissue angiomas - risk of malignant transformation 100% - increased risk of visceral malignancies (astrocytoma, GI malignancy) |
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malignant transformation of osteochondroma? |
secondary chondrosarcoma <1% in solitary osteochondroma 5-10% in MHE |
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multiple hereditary exostosis |
- multiple osteochondromas - autosomal dominant - mutation in EXT1, EXT2, EXT3 genes - EXT1 mutation have more severe presentation |
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EXT1, EXT2, EXT3 genes associated with? |
multiple hereditary exostosis they are tumor suppressor genes |
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location of chondroblastoma? |
epiphyseal, occasionally cross the physis |
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genetic mutations with chondroblastoma |
genetic abnormalities on chromosome 5 and 8 |
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benign lesions that can have pulmonary metastasis? |
chrondroblastoma giant cell tumor |
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chondromyxoid fibroma genetic mutation |
genetic rearrangement may affect chromosome 6 (position q13) |
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secondary chondrosarcoma may arise from? |
osteochondroma (<1% risk) MHE (1-10% risk) enchondroma (1% risk) Ollier's disease (25-40% risk) Maffucci's (100%) |
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clear cell chondrosarcoma |
- malignant immature cartilaginous tumor accounting for <2% of all chondrosarcomas - epiphyseal lesion, can be mistaken for low-grade chondroblastoma - locally destructive with potential to metastasize |
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mesenchymal chondrosarcoma |
- chondrosarcoma variant which presents with a biphasic pattern of neoplastic cartilage with associated neoplastic small round blue cell component - may occur at several discontinuous sites at presentation and can occur in the soft tissues - treatment includes net-adjuvant chemotherapy followed by wide surgical resection |
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lymphoma stain characteristics |
CD20 positive CD45 positive lymphocyte common antigen positive |
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prior names for non-ossifying fibroma |
metaphyseal fibrous defect nonosteogenic fibroma cortical desmoid fibromatosis xanthoma |
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how differentiate chordoma from chondrosarcoma? |
keratin positive in chordoma |
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chordoma stain |
keratin positive weakly S100 positive |
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cell level cause of primary aneurysmal bone cyst |
up regulation of ubiquitin-specific protease USP6 (Tre2) gene on 17p13 when combined with translocation with a promoter pairing - most commonly described is translocation t(16;17)(q22;p13) |
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genetic cause of fibrous dysplasia |
- GS alpha protein activating mutation - chromosome 20q13 - cAMP signaling pathway affected leading to increase cAMP |
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McCune Albright syndrome |
defined by presence of: - skin abnormalities (cafe au last spots in coast of Maine pattern) - endocrine abnormalities (precocious puberty and renal phosphate wasting) - unilateral polyostotic fibrous dysplasia |
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Mazabraud syndrome |
polyostotic fibrous dysplasia soft tissue intramuscular myxomas |
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osteofibrous dysplasia |
rare form of fibrous dysplasia that affects the tibia and is confined to the cortices |
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fibrous dysplasia risk for malignant transformation? |
1% to osteosarcoma, fibrosarcoma, or malignant fibrous histiocytoma |
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osteofibrous dysplasia is also known as |
ossifying fibroma Campanacci lesion |
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osteofibrous dysplasia genetics |
trisomy 7, 8, 12, 22 have been reported does not have Gs alpha activating mutation |
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Paget's disease |
abnormal bone remodeling due to increased osteoclastic bone resorption |
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Paget's disease mutation |
SQSTM1 (p62/Sepquestosome) |
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laboratory findings with Paget's |
- elevated alk phos - elevated urine hydroxyproline - increased urine N-telopeptide, a-C-telopeptide, deoxypyridinoline - normal Ca |