Dougherty Part 9

Question 1

when and where does alveolar rhabdomyosarcoma present

Answer 1

early to mid-adolescence

deep muscle of extremities

Question 2

what causes alveolar rhabdomyosarcoma?

Answer 2

t(2;13) or t(1;13)

PAX3 or PAX7 to FOXO1

Question 3

what is seen in alveolar rhabdomyosarcoma

Answer 3

fibrous septa divide tumor into alveolar-like spaces centrally containing discohesive cells while peripheral cells stick to wall

Question 4

pleomorphic rhabdomyosarcoma is presents where and when

Answer 4

deep soft tissue of adults

Question 5

pleomorphic rhabdomyosarcoma is often mistaken for undifferentiated pleomorphic sarcoma. what differentiates the two

Answer 5

pleomorphic rhabdomyosarcoma is:
desmin positive
MyoD1 or myogenin positive

Question 6

what are the different rhabdomyosarcoma prognosis’

Answer 6

best: sarcoma botryoides
second best: embryonal
poor: alveolar and pleomorphic
65% of children are cured

Question 7

what is a leiomyoma

Answer 7

benign smooth muscle tumor

bland smooth muscle cells in fasicles

Question 8

where is the most common site of a leimyoma

Answer 8

uterus

Question 9

other than the uterus leiomyoma is found at what sites

Answer 9

skin: erector pili, nipples, scrotum, labia

pilar leiomyoma often painful and multiple

Question 10

what is found in leiomyosarcoma and what tests is it negative for

Answer 10

smooth muscle actin and desmin
malignant spindle cells
negative for MyoD1 and myogenin

Question 11

leiomyosarcoma can be found at what sites

Answer 11

skin, deep extremities, and retroperitoneum

Question 12

synovial sarcoma is caused by what

Answer 12

t(X;18)

SS18-SSX fusion

Question 13

synovial sarcoma is found in what age group and where

Answer 13

20-40s
deep and around large joints
60-70% lower extremities (KNEE/THIGH)

Question 14

biphasic (dual) differentiation is what and seen in what

Answer 14

epithelial cells as glands, cords, or nests
spindle cells: cellular in fascicles
synovial sarcoma

Question 15

what types of synovial sarcoma has what types

Answer 15

biphasic (dual) differentiation

monophasic (spindle cell) variant

Question 16

what is seen in the monophonic (spindle cell) variant of synovial sarcoma

Answer 16

positive for cytokeratins (epithelial marker)

epithelial membrane antigen (EMA)

Question 17

what are undifferentiated pleomorphic sarcoma (malignant fibrous histiocytoma)

Answer 17

group of aggressive neoplasms

found in proximal extremities and retroperitoneum

Question 18

what is seen in undifferentiated pleomorphic sarcoma (malignant fibrous histiocytoma)

Answer 18

cell pleomorphism and storiform pattern (diagnosis of exclusion)
large grey, hemorrhagic and/or necrotic

Question 19

what is in immunohistochemistry that is a marker of epithelium

Answer 19

epithelial membrane antigen

cytokeratin

Question 20

what is in immunohistochemistry that is a marker of skeletal muscle

Answer 20

MyoD1 and Myogenin

Actin and Desmin

Question 21

what is in immunohistochemistry that is a marker of smooth muscle

Answer 21

smooth muscle actin

Actin and Desmin

Question 22

what is in immunohistochemistry that is a marker of a non epithelial tumor

Answer 22

vimentin

Question 23

what is a myopathy

Answer 23

disorder of the muscles

Question 24

what is muscular dystrophy

Answer 24

inherited disorder

progressive muscle weakness and wasting

Question 25

what is segmental muscle necrosis

Answer 25

destruction of a portion of the myocyte length

Question 26

what is muscle regeneration

Answer 26

satellite cells reconstitute destroyed muscle

Question 27

what is fiber hypertrophy in response to

Answer 27

increased load (working out)

Question 28

what is myotonia

Answer 28

tonic spasm of one or more muscles | a condition characterized by such spasms

Question 29

what is hypotonia

Answer 29

deficient tone or tension

Question 30

what is arthrogryposis

Answer 30

fixation joints in an extended or flexed potions

Question 31

what is gowers sign and what does it indicate

Answer 31

use the hands and arms to "walk" up from a squatting position indicates weakness of proximal muscles

Question 32

what is the pneumonic for type 1 fiber types and what does it mean

Answer 32

``` "one slow fat red ox" type 1 fibers slow fibers lipid rich (fat) high myoglobin (red) oxidative (ox) ```

Question 33

what is grouped atrophy

Answer 33

loss of motor neuron leads to atrophy of associated muscle

Question 34

what is denervation atrophy

Answer 34

disorder of motor neurons breakdown of myosin and actin resorption of myofibrils

Question 35

Spinal muscle atrophy (SMA) is what and cased by what

Answer 35

progressive distortion of anterior horn cells and cranial nerve motor neurons AR- Survival Motor Neuron 1 (SMN1)

Question 36

what is seen histologically in spinal muscle atrophy (SMA)

Answer 36

panfascicular atrophy with scattered large fibers 2-4x normal size

Question 37

Duchenne Muscular Dystrophy (DMD) is caused by what

Answer 37

dystrophin defect from abnormal gene at Xp21 (deletion most of the time) X-linked

Question 38

DMD manifests when and what is the timeline from there

Answer 38

manifests before 5 wheel chair by 12 death in 20s

Question 39

what does DMD present as

Answer 39

normal at birth delayed walking then clumsy weak pelvic then shoulder girdle pseudo hypertrophy of calves as fivers increase in size increased CK (returns to normal with muscle loss)

Question 40

what causes death in DMD

Answer 40

respiratory failure cardiac decompensation lung infection

Question 41

Becker Muscular Dystrophy is due to what

Answer 41

defect in dystrophin quality/quantity of protein from abnormal Xp21

Question 42

the onset of becker's is what compared to DMD

Answer 42

backers has later onset, is less severe and less common