Bone Path CIS

Question 1

All are asosciated with ___ (genetic defect).

• Thanatophoric dysplasia
• Hyperpigmented “velvet” like skin condition
• Achondroplasia
• Seborrheic keratosis

Answer 1

FGFR3 (bone)

Question 2

genes encoding alpha1 or alpha2 chains

Answer 2

osteogenesis imperfecta

Question 3

11 year old male with new arm fx after falling out of bed. 40% for ht and weight. Slight hearing impairment bilaterally and small deformed blueish teeth. XR shows fx of mid humerus without bone defects. What is most likely?

Answer 3

Osteogenesis imperfecta

Question 4

HOXD13 TF mutation

Answer 4

brachydactyly

Question 5

Carbonic anhydrase AR defect

Answer 5

osteopetrosis

Question 6

slow growing by locally aggressive tumor with “pinwheel” fibroblasts morphology

Answer 6

dermatofibrosarcoma protuberans (storiform)

Question 7

Common in what age group?
OI
osteopetrosis
rickets (vitamin D)
renal osteodystrophy

Answer 7

kids

Question 8

55year old male with persistently elevated alkaline phosphatase elevated after discontinuation of statin drug. BMI 29. Bilateral bowing of femurs and tibiae. ALT/AST/GGT w/in normal limits. Radionucleotide scan reveals abundant uptake in SEVERAL BONES. Sclerotic lamellar bone with a ___ pattern.

Answer 8

osteitis deformans (paget dz)

sclerotic LAMELLAR BONE with a MOSAIC pattern

Polyostotic=several bones

Question 9

Both have what in common;
rickets
osteitits deformans (paget disease)

Answer 9

bowing deformity

Question 10

Endocrine (i.e. pit adenoma) disorder may result in ___, which affects bone.

Answer 10

primary hyperparathyroidism

Question 11

59 year old postmeno black female. Collapsed after a “sap” walking down the stairs.
-PMH: 3 years post right masectomy wiht chemo for HER2+ breast cancer. Pain localized to right hip/groin with F/ER. XR reveals minimal bone loss, no loss of joint space, intertrochanteric fx with lytic lesions in pelvis.

What type of fracture and what etiology?

Answer 11

Pathologic fracture - dt hx of HER2+ breast cancer (met to bone)

Question 12

Cartilaginous Cap that stops growing at puberty

Answer 12

osteoChondroma

Question 13

osteosarcoma occurs in what age group…

chondrosarcoma arises from…

Answer 13

in kids

cartilagenous precursor

Question 14

Curette reveals a glistening grey/white tissue composed of type 2 collagen, water, proteoglycans. Well defined intermedullary lesion in small bones of hands and feet.

Answer 14

chondrosarcoma

type 2 collagen, water, proteoglycans describes cartilage

Question 15

precocious puberty, GNAS1

Answer 15

mccune albright (fibrous dysplasia)

Question 16

multiple skeletal lesions (cartilage) - two syndromes

Answer 16

ollier and maffucci

Question 17

page, bone infarct, radiation

Answer 17

osteosarcoma

Question 18

primary hyperpPTH

Answer 18

brown tumor, osteitis fibrosis cystica, osteoporosis

Question 19

Malignant spindle shaped cells and malignant epithelioid cells that form gland-like structures, consistent with biphasic tumor.
-Tumor?

Answer 19

(soft tissue tumor at LE)

synovial sarcoma

Question 20

t(11;22)

Answer 20

ewing sarcoma (small blue cell)

Question 21

t(x;18)

Answer 21

synovial sarcoma (malignant spindle cell)

SS18–>SSX1/2/or4