B6-016 Soft Tissue Sarcoma Flashcards
what age group does rhabdomyosarcoma typically present in?
children
what age group does synovial sarcoma typically present in?
young adults
what age group does liposarcoma typically present in?
mid to late adult life
most common soft tissue tumors in adults
lipoma
encapsulated mass of mature fat cells
lipoma
one of the most common sarcomas in adults
liposarcoma
caused by amplification of the MDM2 gene
well differentiated/defifferentiated liposarcoma
chromosomal translocation t(12, 16)(q13;11)
fusion of DDIT3(CHOP) gene with FUS gene
mixoid/round cell liposarcoma
cytoplasmic vacuoles of lipid that scallop the nucleus
liposarcoma
lipoblasts and MDM2 amplification
well differentiated liposarcoma
t(12;16)(q13;11) tranlocation
DDIT3-FUS fusion
myxoid liposarcoma
translocation associated with myxoid/round cell liposarcoma
t(12;16)(q13;11)
DDIT3-FUS fusion
reactive pseudosarcomatous proliferation
nodular fasciitis
acute history of solitary rapidly growing mass often on volar aspect of forearm, chest, or back
nodular fasciitis
plump randomly arranged spindle cells in a myxoid background containing lymphocytes and extravasated RBCs
nodular fasciitis
fibroblasts
myxoid background
extravasated RBCs
nodular fasciitis
superficial fibromatosis occuring in the palm
dupuytren’s
superficial fibromatosis occuring in the plantar foot
ledderhosens
superficial fibromatosis occuring in the penis
peronie’s
nodular or poorly defined bundles of mature fibroblasts surrounded by dense collagen
superficial fibromatosis
collagen
fibroblasts
superficial fibromatosis
caused by mutation in the beta-catenin genes
deep seated fibromatosis
most frequently occur in females teens-30s
deep seated fibromatosis
often occur in patients with Gardner syndrome (variant of familial adenomatous polyposis)
intra-abdominal deep seated fibromatosis
grey white, firm infiltrative mass
deep seated fibromatosis
long fasicles of elongated fibroblasts and collagen fibers
IHC + for beta-catenin
deep seated fibromatosis
fibroblasts
trapped skeletal muscle
deep seated fibromatosis
rare sarcoma occuring mostly in the retroperitoneum, thigh, knee, or distal extremities
fibrosarcoma
malignant spindle cells arranged in herringbone pattern with frequent mitoses and areas of necrosis
fibrosarcoma
very aggressive fibrous tumor with high recurrence and metastasis rate
fibrosarcoma
herring bone pattern
fibrosarcoma
benign tumor of smooth muscle common in the uterus
leiomyoma
intersecting bundles of spindle cells with blunt-ended cigar shaped nuclei
leiomyoma
blunt ended cigar shaped nuclei, no atypia, no mitosis
leiomyoma
associated with smooth muscle actin (SMA), H-Caldesmon
leiomyosarcoma
malignant spindle cells with cigar shaped nuclei, frequent mitoses and necrosis
leiomyosarcoma
smooth muscle tumor with necrosis and hemorrhage
leiomyosarcoma
cigar shaped atypical nuclei
leiomyosarcoma
most common soft tissue sarcoma of children and adolescents
rhabdomyosarcoma
“strap cells” with eccentric nucleus with abundant granular eosinophilic cytoplasm with cross striations
rhabdomyosarcoma
desmin, myoglobin, MyoD1
rhabdomyosarcoma
strap cells
rhabdomyosarcoma
[…] rhabdomyosarcoma
site: head, neck, GU
epidemiology: children
clinical: rapidly growing mass
embryonal rhabdomyosarcoma
[…] rhabdomyosarcoma
site: head, neck, extremities
epidemiology: adolescents, all ages
clinical: rapidly growing mass
alveolar rhabdomyosarcoma
[…] rhabdomyosarcoma
site: extremities
epidemiology: older adults
clinical: rapidly growing mass
pleomorphic rhabdomyosarcoma
sarcoma botryoides “bunch of grapes”
embryonal rhabdomyosarcoma
most frequently occurs in children under 5 yo
develops in mucosal linings of nasopharynx, bile duct, vagina, bladder
embryonal rhabdomyosarcoma
characteristic t(2;13)(q35;14) translocation
PAX-OXO1 translocation
alveolar rhabdomyosarcoma
FISH detects FOXO1 breakpoint
alveolar rhabdomyosarcoma
PCR detects FOXO1-PAX fusion
alveolar rhabdomyosarcoma
in alveolar rhabdomyosarcoma, the chimeric PAX3-FOXO1 protein leads to dysregulation of
skeletal muscle differentiation
high grade small round cell tumor
solid growth pattern with central loss of cohesion
alveolar rhabdomyosarcoma
solid growth pattern
small round cells
loss of cohesion
alveolar rhabdomyosarcoma
list the prognosis of best to worst of the rhabdomyosarcomas
botryoid > embryonal > pleomorphic > alveolar
juvenille […] of the skin of newborns is extremely common
capillary hemangiomas
closely packed aggregates of thin walled capillaries
capillary hemangioma
large cavernous vascular spaces filled with blood
often in liver or other deep structures
cavernous hemangiomas
associated with HHV8
kaposi sarcoma
most aggressive form of kaposi sarcoma
AIDS-associated
most common AIDS associated tumor in US
kaposi sarcoma
3 stages of kaposi sarcoma
patches
plaques
nodules
proliferation of slit-like vascular channels lined by plump spindle cells with extravasated RBCs
kaposi sarcoma
slit like spaces lined by spindle cells
kaposi sarcoma
associated with chemical carcinogens like arsenic, thorotrast, PVC
angiosarcoma
associated with lymphedema following axillary lymph node dissection in radical mastectomy for breast cancer
angiosarcoma
vascular channels lined by atypical plump malignant epithelial cells
angiosarcoma
CD31+
angiosarcoma
very aggressive vascular tumor with poor outcomes
frequent recurrence and distant metastasis
angiosarcoma
anastomosing vascular channel lined by atypical cells
angiosarcoma
occur in 20-40 yo
eccentric mass loosely attached to nerve
schwannoma
spindle cells show nuclear palisading, Antoni A and B areas
schwannoma
S100+ in all cells
schwannoma
small number associated with NF2
schwannoma
nuclear palisading (line up)
schwannoma
schwannoma are [encapsulated/nonencapulated] while neurofibromas are [encapsulated/nonencapulated]
schwannoma are encapuslated
neurofibromas are non-encapsulated
bundles of spindle cells with angulated, elongated nuclei
wavy cell process in loose mxyoid background
neurofibroma
S100+ in scattered cells
neurofibroma
10% occur in NF1
neurofibroma
non-encapsulated
mxyoid background
elongated spindle cells
neurofibroma
cafe-au-lait marks
elephantiasis
associated with
NF1 (neurofibroma)
plexiform neurofibroma is NF[..]
NF1
50% are associated with NF1
50% are sporadic
malignant peripheral nerve sheath tumor
70% of malignant peripheral nerve sheath tumor arise in
major nerve trunks
focal S100 in 60%
malignant peripheral nerve sheath tumor
spindle and epithelioid variants
malignant peripheral nerve sheath tumor
malignant peripheral nerve sheath tumor + rhabdomyosarcoma is called
Triton tumor
can arise from plexiform neurofibroma
malignant peripheral nerve sheath tumor
translocation t(x;18)
synovial sarcoma
biphasic tumor with epithelial and mesenchymal components
synovial sarcoma
commonly metastasizes to bone, lung, and lymph nodes
sometimes up to 20 years later
synovial sarcoma
mesenchymal (spindles) and epithelial elements
synovial sarcoma
malignant spindle cells in storiform pattern
large bizarre multinucleated pleomorphic cells
undifferentiated pleomorphic sarcoma
large, bizarre tumor cells
undifferentiated pleomorphic sarcoma
most commonly found in superficial subcutaneous tissue of the proximal extremities and trunk
lipoma
benign, soft, mobile, painless masses that are not removed except for cosmetic/functional purposes
lipoma
treatment for liposarcoma
wide excision
MDM2 amplification
well differentiated/dedifferentiated liposarcoma
fusion of DDIT3-FUS genes
t(12;16)
myxoid/round cell liposarcoma
mature fibroblasts surrounded by dense collagen
fibromatosis
types of fibromatosis [3]
penile
palmar
plantar
soft, mobile, subcutaneous mass
lipoma
large red plaques in mouth
Kaposi sarcoma
associated with mutation in beta catenin gene
deep seated fibromatosis
intraabdominal lesions are associated with familial adenomatous polyposis
deep seated fibromatosis
diagnostic cells of rhabdomyosarcoma
“strap cells”/rhabdomyoblasts
tumor that develops in hollow, mucosal lined organs
sarcoma botryoides (variant of embryonal rhabdomyosarcoma)
grossly resembles a bunch of grapes
sarcoma botryoides
common locations for sarcoma botryoides [4]
nasopharynx
bile duct
bladder
vagina
three types of rhabdomyosarcoma
embryonal
alveolar
pleomorphic
blunt ended, cigar shaped nuclei with minimal atypia and few mitoses
leiomyoma
commonly called uterine fibroids
leiomyoma
three types of hemangiomas
capillary
cavernous
pyogenic granuloma
most juvenille hemangiomas disappear by […] of age
12 months
found in 95% percent of cases of Kaposi sarcoma
positive HHV-8 serology
common site for liposarcoma
retroperitoneum
often arise from perinephric fat
liposarcoma
what is the cell of origin of liposarcoma?
lipoblasts
what genetic factor is found in well differentiated/dedifferentiated liposarcoma?
MDM2 amplification
treatment of dedifferentiated liposarcoma
wide excision with possible chemotherapy/radiation as this is a high grade tumor with high potential of metastasis
when does mxyoid liposarcoma become high grade?
as the cells start to round out
cafe au lait spots are associated with
NF1
schwannomas are associated with NF[…]
NF2
neurofibromas are associated with NF[…]
NF1
grow diffusely within a nerve and resemble a “bag of worms”
plexiform neurofibroma (NF1)
50% of MPNST are associated with NF[..]
NF1
attached to nerve
malignant, grows rapidly
MPNST
**NF1 patients are high risk and need to be monitored closely for development of MPNST
can arise from the transformation of a neurofibroma, usually a plexiform
MPNST
slow-growing plaque like mass
slit like vascular spaces lined by spindle cells
extravasated RBCs
Kaposi sarcoma classic type
typically occurs in older men from middle east or eastern europe
slowly progressive
Kaposi sarcoma classic type
types of Kaposi sarcoma [4]
classic
African endemic
AIDS associated
transplant associated
classic translocation is t(2;13)
alveolar rhabdomyosarcoma
most common site for alveolar rhabdomyosarcoma
head/neck in adolescents
small round cell tumor with central discohesion
positive for skeletal muscle markers and rhabdomyoblasts
alveolar rhabdomyosarcoma
which rhabdomyosarcoma has the worst prognosis?
alveolar
biphasic with epithelial and mesenchymal markers
synovial sarcoma
most common site for synovial sarcoma
around knee
t(x;18) (p11;q11)
synovial sarcoma
SS18-SSX fusion on PCR
synovial sarcoma
SYT breakapart probe on FISH
synovial sarcoma
TLE-1 on IHC
synovial sarcoma
most common location of metastasis of synovial sarcoma
90% lungs
**10% to bones/lymph
metastasis occurs in 45% of […] patients
synovial sarcoma
late metastasis can appear up to 20 years later
synovial sarcoma
CD31 and CD34 are markers of
vascular endothelial cells
cytokeratin is positive in […] cells
epithelial
S100 is a marker of […] differentiation
neural
MyoD is a marker of […] differentiation
muscle
beta catenin
fibromatosis
DDIT3-FUS
round/myxoid liposarcoma
desmin is a marker of […] differentiation
muscle
expression of smooth muscle actin indicates
leiomyoma
the presence of hemorrhage, necrosis, and frequent mitotic figures indicates
malignant tumor
alveolar rhabdomyosarcoma is associated with translocations involving
FOXO1
t(12;16)
round/myxoid liposarcoma
t(x;18)
synovial sarcoma
what type of tumors are CD31 and CD34 associated with?
vascular