Bones, Joints, ST - Dobson Flashcards by Alex Hamidi

What has morphology of monophonic to uniform spindle cells w/scant cytoplasm, is biphasic and has + gland like structures and immunochemistry is (+) for keratin?

Synovial sarcoma

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What tumor occurs in the deep soft tissue of extremities most commonly in the thigh of middle aged/older adults and is aggressive w/poor prognosis?

Undifferentiated pleomorphic sarcoma (UPS)

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What are the main causes of osteonecrosis (AVN)?

Alcohol abuse
Steroids
Fracture
Pregnancy 
Radiation

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What is the most common benign bone tumor?

Occurs where?

What age group, in whom?

Osteochondroma (exostosis), 85% solitary

Metaphysis of long bones

M > F, late adolescence

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Monostotic fibrous dysplasia is what?

Causes what?

CFs?

Single bone due to GNAS1 GOF

B9 tumor, well-circumscribed lesion

Causes pain, fracture, discrepancies in limb length

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What is a multiloculated blood-filled cystic space that occurs in 1st 2 decades of life mostly in females and presents w/pain and swelling most often in the metaphysis of long bones?

Mutation?

Aneurysmal bone cyst (ABC)

USP6 –> Increased NF-KB

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What is the most common sarcoma in adults 50-60 and occurs in deep soft tissues, prox extremities and retroperitoneum?

Translocation?

Fusion inhibits what?

Liposarcoma

t(12;16) well-diff and myxoid

MDM2 inhibits p53

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What tumor has morphology of sheets of primitive small round cells?

Mutation?

Ewing Sarcoma

T(11; 22)
FLI1 - EWS

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Osteopetrosis mutation in what?

Inheritance?

CAII, CLCN7

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What tumor occurs in 20s-40s, present w/deep seated mass and has t(X;18)?

Synovial sarcoma

SS18-SSX1,2, 4 fusion genes

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What has morphology of gray-white, firm, bland fibroblasts arranged in broad sweeping fascicles amid dense collagen?

Resembles what?

Fibromatosis

Scar

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What tumor (b9) has a ground glass appearance?

Cured how?

Monostotic fibrous dysplasia

Curettage

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Acute presentation of osteomyelitis?

Other presentation?

Localized pain, fever, chills

FUO or localized pain

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What is a pseudocyst w/synovial fluid w/no lining and no connection?

Ganglion cyst

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Leiomyosarcoma occurs where?

Deep soft tissue extremities
Retroperitoneum
IVC

W > M

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Osteoblastoma size?

Occurs where?

Treatment?

> 2 cm

Posterior spine

Curette or excise

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How to diagnose ABC?

1/3 have what?

CT or MRI

Blue bone

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Osteoporosis causes what skeletal deformity?

This causes what?

Kyphoscoliosis

Restrictive lung disease

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Which type of OI does death occur in utero or shortly after birth?

Type 2

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What has the morphology of cement lines and mosiac pattern of lamellar bone?

Paget’s

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Ewing sarcoma occurs in whom?

Presents how?

Clinical course?

< 20, boys > females

Painful enlarging mass that is tender, warm, swollen, often mimics infection

Aggressive

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Multiple hereditary exostosis disease what inheritance?

Mutation?

Can progress to what?

EXT1/EXT2

Chondrosarcoma

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What is a polyostotic disease assoc w/cafe au lait spots, endocrine abnormalities like precocious puberty?

Due to what?

McCune-Albright syndrome

GNAS1 mutation in embryogenesis

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What has morphology of lytic tumor that destroys overlying cortex producing bulging soft tissue?

Giant cell tumor

Osteoclastoma

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Newly deposited bone can form a shell of living tissue known as what?

Involucrum

Cleidocranial dysplasia mutation? Inheritance? CF?

RUNX2 AD Short height, no clavicle

What arises from arrector pili muscle and is painful and found in skin, nipples, scrotum, labia? The hereditary and RCC have what mutation?

Leiomyoma LOF ch. 1, fumarate hydratase

What type of fracture are the ends of the bone at the fracture site unaligned?

Displaced

What is the collagen defect in type 1 OI?

Decreased synthesis of pro-a1(1) | Abnromal pro-a1(1) or proa2(1)

What has morphology of hemosiderin or foamy lipid due to macrophages w/patchy fibrosis?

Tenosynovial giant cell tumor

What is Mazabraud syndrome?

Fibrous dysplasia (polyostotic) and soft tissue myxomas (IM)

What is the most common soft tissue tumor of adulthood? Described how?

Lipoma Soft, mobile, painless

Osteosarcoma occurs in what age group? Occurs where? What mutation?

< 20 and older adults w/Paget's Long bone metaphysis (femur/prox tibia) RB

10% of joint replacements are for what? What is the best test to see?

AVN MRI

What tumor has morphology of soft gray, primitive round and spindle cells in a myxoid stroma w/visible cross-striations?

Embryonal rhabdomyosarcoma

What causes a more destructive osteomyelitis than pyogenic form? Spreads how? 75% develop st infection where?

Mycobacterium Hematogenous through ant. Vertebral bodies Psoas

What has a t(x;18)?

Synovial sarcoma

What type of fracture is a slowly developing rapture that follows a period of increased physical activity in which bone is subjected to repetitive loads?

Stress

What has morphology of extending from medulla through cortex into soft tissue, chondrocytes w/increased cellularity and atypia?

Chondrosarcoma

What has morphology of well encapsulated mass of mature adipocytes, subcutis of prox extremities and trunk?

Lipoma

Long bones form how? Flat bones?

Endochondral ossification Intramembranous

What tumor has morphology of mature adipocytes and scattered spindle cells w/hyperchromatic nuclei?

Well-differentiated liposarcoma

Which karyotype makes up the majority?

Complex

What are the most common sites of metastatic tumors that go to bones?

Prostate, breast, kidney, lung Peanut Butter, K(L)S

What tumor has morphology of numerous spaces lined by discohesive uniform round tumor cells w/little cytoplasm and a t(2; 13)?

Alveolar rhabdomyosarcoma

Osteoid osteoma size? Occurs where? Mostly what? Main symptom?

< 2 cm Appendicular skeleton (50% femur/tibia) Cortex w/reactive bone Severe nocturnal pain

What can cause Dupuytren contracture, plantar and penile (Peyronie disease) Clinical course? Demographic?

Superficial fibromatosis Innocuous M > F

What has a t(2;13) or t(1;13)? Gene fusion?

Rhabdomyosarcoma - alveolar type PAX3-FOXO1 PAX7-FOXO1

What large, infiltrative masses occurs in teens-30's in women that frequently recur but rarely metastasize and may be occasionally painful? Associations with what?

Deep fibromatosis (Desmoid tumor) APC, B-catenin mutation Gardner syndrome

CF of osteopetrosis

Fracture Anemia, leukopenia CN 2, 7, 8 nerve compression

Alveolar soft-part sarcoma has what t?

t(X;17) TFE3-ASPL

Diffuse tenosynovial giant cell tumor occurs where? Localized?

Large joints (knee 80%) Small joints (hand)

What tumor has morphology of large multinucleated, bizarre eosinophilic tumor cells w/+ immunochemistry for myogenin? Prognosis?

Pleomorphic rhabdomyosarcoma Fatal - poor, occurs in adults

Osteopetrosis AD gene mutation?

LRP5

Sarcoma botryoides is a variant of what? May develop where?

Embryonal rhabdomyosarcoma Nasopharynx, bile duct, bladder, vagina

What morphology is pathognomonic for osteosarcoma? Presents how? 10-20% of pts have what at time of dx?

Malignant osteoid (formation of bone by tumor cells) Painful progressively enlarging mass Metastases to lungs (poor prognosis)

IV drug users or gu tract infections w/osteomyelitis more likely to have what bacterial infection?

E coli Pseudomonas Klebsiella

What has morphology of a painless, firm mass, eosinophilic spindle cells w/blunted ends and is (+) immunostain w/Abs to smooth m. Actin and desmin?

Leiomyosarcoma

What type of fracture extends only partially through the bone, common in infants?

Green stick

What tumor (b9) has morphology composed of curvilinear trabeculae of woven bone that lack conspicuous osteoblastic rimming and arise in a background of fibrous tissue?

Fibrous dysplasia

Chondrosarcoma types w/aggressive behavior? Most common type (90%)?

Dedifferentiated and mesenchymal Conventional central

What is the most common soft tissue sarcoma of childhood and teenagers, < 20 y/o? Types?

Rhabdomyosarcoma Alveolar (20%) Embryonal (60%) Pleomorphic (20%)

What presents w/severe nocturnal pain and is relieved by ASA/NSAIDS?

Osteoid osteoma

What has the morphology of no medullary canal, compressed neural foramen a, deposited bone is not remodeled and is woven? What other key feature?

Osteopetrosis Erlenmeyer flask deformity

What has morphology of railroad tracks - dissecting osteitis w/osteoclasts boring into center of trabeculum?

Hyperparathyroidism

Which type of osteoporosis has morphology of thinned cortex, widened Haversian?

Senile

What is thanotophoric dwarfism? Mutation?

Lethal version of achondroplasia FGFR3

What is the low-turnover variant of Osteoporosis? Due to what?

Senile low calcium intake

Bone metastasis has what changes to the following? Ca PO4 ALP?

inc Inc/normal Inc

What tumor has morphology of abundant ground substance and a rich capillary network in which are scattered immature adipocytes and more primitive round to stellate cells?

Myxoid liposarcoma

What translocation in tenosynovial giant cell tumor? Overexpress what?

T(1;2) fusion of type 6 collagen to a-3 M-CSF

Chondroma occurs where? Age group? Risk of what?

Tubular bones hands and feet 30-50 Sarcoma

What is a lytic tumor that is locally aggressive, b9, and occurs in 20-40s around the knee? Most are what? Tx?

Giant cell tumor (osteoclastoma) Solitary RANKL-I ---> denosumab

Infantile fibrosarcoma has what t?

t(12;15) ETV6-NTRK3

Presence of Homer-Wright Rosettes in Ewing sarcoma indicates what? Known as what?

Increased degree of of neuroectodermal differentiation Small blue cell tumor

What has a t(12;16)? Gene fusion?

Liposarcoma myxoid and round cell type FUS-DDIT3

What type of fracture is the bone fragmented?

Comminuted

Chondrosarcoma age group and sex? Presents how? 15% arise from what? Mutation?

40-60 Painful enlarging mass (axial skeleton) Preexisting b9 cartilaginous tumor IDH1 and IDH2

Osteoid osteoma and osteoblastoma occur in what age group?

10-20

What has the morphology of circumscribed hyaline cartilage nodule in medulla?

Chondroma

What is the high turnover variant of osteoporosis? What hormones or inflammatory agents are increased/dec?

Postmenopausal INC: IL-6, IL-1, TNF, RANK, RANKL, osteoclast DEC: estrogen, OPG

What is an important prognostic finding in Ewing sarcoma?

The amount of chemo-induced necrosis

OI aka brittle bone disease mutation? Inheritance?

COL1A1 or COL1A2 AD

Brachydactyly types D and E mutation? CF?

HOXD13 Short fingers and toes

Achondroplasia mutation? inheritance? CF?

FGFR3 AD Dwarfism

How does osteomyelitis spread in children? Localization of infection where?

Hematogenous Metaphysis in long bone

What is Ollier disease? What morphology?

Multiple endochondromas More cellular, have atypia

What has the hallmark of histologically normal bone w/decrease in quantity, loss of horizontal trabeculae and thickened vertical trabeculae?

Osteoporosis

What is a small intraosseous abscess that frequently involves the cortex and is walled off by reactive bone?

Brodie abscess

What occurs mainly in axial skeleton and femur in pts > 70, most commonly in whites in U.S./Europe? Mutation in familial form? Juvenile form?

Paget's (osteitis Deformans) SQSTM1 --> Inc NF-KB RANK or OPG

How does osteomyelitis occur in adults? Seed what regions? Organism?

Open fractures, surgery, diabetic foot Epiphysis and subchondral regions S. Aureus

Maffuci syndrome has what?

Enchondromatosis, spindle cell hemangiomas, ovarian carcinomas, and at risk for brain gliomas

What confirms osteoporosis on xray?

30-40% loss

What is the result of impaired formation/fx of osteoclasts?

Osteopetrosis

Dead bone is known as what?

Sequestrum

What presents as deep bone pain, deformity or nerve entrapment? What complications?

Paget's sarcoma (osteosarcoma or fibrosarcoma)

Postnatal fracture, skeletal fragility, hearing impairment, and joint laxity indicate what condition?

OI Blue sclera gives it away