Path Soft Tissue 2 Exam 2

Front 1

Most common soft tissue sarcoma of children under 15 years of age

Back 1

Rhabdomyosarcoma

Front 2

Rhabdomyosarcoma Signs/Symptoms:

Back 2

Tumors in head & neck can present with cranial nerve signs
Tumors in GU tract present with dysuria, hematuria or incontinence
Tumors in extremities present as painful, rapidly-growing masses
Age:
Predominantly infants and children
Sex:
M > F

Front 3

Rhabdomyosarcoma Anatomic Distribution

Back 3

Head and neck; GU tract and retroperitoneum; upper and lower extremities

Front 4

Rhabdomyosarcoma Gross Findings

Back 4

Botryoid embyonal tumors of urinary bladder and nasopharynx present as polypoid masses comprised of hemorrhagic gelatinous cysts
Tumors of extremities are usually solid and gray-white
Tumors rarely larger than 3-4 cm

Front 5

Rhabdomyosarcoma Ancillary Testing:

Back 5

IHC
Desmin and Actin – positive
Cytogenetics
Embryonal tumors consistently show LOH at 11p15.5
Alveolar tumors are usually characterized by t(2;13)(q35;q14) resulting in generation of PAX3-FKHR chimeric gene which encodes a transcription factor

Front 6

Rhabdomyosarcoma Prognosis/Treatment

Back 6

Prior to 1960, 5-year mortality 100%
Now with surgery, chemo and RT, 5-year survival for botryoid embryonal rhabdo is 95%; classic embryonal rhabdo is 66%; alveolar rhabdo is 54%
Metastasis in 20% of cases: lungs, bone, lymph nodes

Front 7

Tumors and Tumor-Like Conditions of Blood Vessels

Back 7

Benign:
Hemangioma
Malignant:
Angiosarcoma

Front 8

Most common benign soft tissue tumor of infancy and childhood

Back 8

Hemangioma

Front 9

Hemangioma Signs/Symptoms

Back 9

Signs/Symptoms

Painless blue or red nodule
Age:
Childhood
Sex:
F > M

Front 10

Hemangioma Anatomic Distribution

Back 10

Predilection for head & neck
Internal tumors of the liver

Front 11

Hemangioma Prognosis/Treatment:

Back 11

Surgical excision
INF- for complex or multiple lesions
Hemangiomas do NOT undergo malignant transformation

Front 12

Angiosarcoma Signs/Symptoms

Back 12

Ill-defined bruise with indurated border
Edema, ulceration and necrosis
Age:
Elderly
Sex:
F > M

Front 13

Angiosarcoma Anatomic Distribution:

Back 13

Predilection for skin and superficial soft tissue
Rarely arise from major vessels

Front 14

Chronic lymphedema and previous RT predispose to

Back 14

angiosarcoma

Front 15

Angiosarcoma Ancillary Testing:

Back 15

IHC
CD34 and CD31 – positive
Cytogenetics
No consistent abnormality

Front 16

Angiosarcoma Prognosis/Treatment:

Back 16

POOR – 5-year survival 10-20%
Metastasis to lung, liver, spleen and lymph nodes

Front 17

Tumors and Tumor-Like Conditions of Peripheral Nervous Tissue

Back 17

Benign:
Schwannoma (Neurilemoma)
Neurofibroma
Malignant:
Malignant Peripheral Nerve Sheath Tumor (MPNST)

Front 18

90% of these tumors are sporadic

Back 18

Schwannoma

Front 19

Schwannoma Signs/Symptoms:

Back 19

Freely mobile, non-painful lesion
Age:
All ages; most common between 20-50 years
Sex:
M = F

Front 20

Schwannoma Anatomic Distribution:

Back 20

Head & neck, flexor surfaces of upper and lower extremities

Front 21

Schwannoma Ancillary Testing:
Prognosis/tx

Back 21

1)IHC
S100 – positive
2)Simple surgical excision

Front 22

Neurofibroma

Back 22

Growth pattern may be localized, diffuse or plexiform

Front 23

Diffuse and plexiform tumors occur in the setting of

Back 23

neurofibromatosis type I (NF1) aka, von Recklinghausen’s disease

Front 24

Neurofibroma Localized tumors are

Back 24

are sporadic and not associated with NF1

Front 25

Neurofibromatosis type 1 characteristics

Back 25

Autosomal dominant with high penetrance

Associated with deletions, insertions or mutations of the NF1 tumor suppressor gene on chromosome 17.
NF1 encodes for neurofibromin

MALIGNANT TRANSFORMATION in a small percentage of cases (<4%)

Front 26

Neurofibromatosis type 1 clinical manifestations

Back 26

Café au lait spots; multiple neurofibromas involving skin, GI tract, larynx, blood vessels and heart

Asymptomatic pigmentation of iris (Lisch nodules)

Front 27

Neurofibroma Signs/Symptoms:

Back 27

Slow-growing, painless nodules

Age:
Young adults (20-30 years)
Sex:
M = F

Front 28

Neurofibroma Anatomic Distribution:

Back 28

Dermis throughout the body (internally if NF1)

Front 29

Neurofibroma Ancillary Testing:

Back 29

IHC
S100 – positive (to a lesser extent than schwannoma)

Front 30

Neurofibroma Prognosis/Treatment

Back 30

Localized tumors removed by surgical excision
Surgery reserved only for large and painful lesions in patients with NF1

Front 31

25-50% of tumors found in patients with NF1

Back 31

Malignant Peripheral Nerve Sheath Tumor

Front 32

Malignant Peripheral Nerve Sheath Tumor Signs/Symptoms:

Back 32

Mass lesion
Age:
20-50 years
Sex:
M = F

Front 33

Malignant Peripheral Nerve Sheath Tumor Anatomic Distribution

Back 33

Most arise in association with major nerve trunks (sciatic nerve, brachial and sacral plexi)

Front 34

Malignant Peripheral Nerve Sheath Tumor Gross Findings:

Back 34

Eccentric masses (> 5 cm) with hemorrhage and necrosis

Front 35

Malignant Peripheral Nerve Sheath Tumor Ancillary Testing

Back 35

IHC
S100 – variable (weak if present)

Front 36

Malignant Peripheral Nerve Sheath Tumor

Back 36

Local recurrence rate between 40-60%
5-year survival 50%
Metastasis to bone, lung and pleura
Surgery, chemo and RT

Front 37

Tumors of Primitive Neuroectodermal Origin

Back 37

Malignant:
Extraskeletal Ewing’s Sarcoma / Primitive Neuroectodermal Tumor (PNET)

Front 38

Ewing’s Sarcoma / PNET Signs/Symptoms:

Back 38

Age:
Young adults (usually < 30 years)
Sex:
M > F

Front 39

Ewing’s Sarcoma / PNET Anatomic Distribution:

Back 39

PNETs usually arise in extremities, upper thigh, buttock and shoulder
Extraskeletal Ewing’s sarcoma usually arises in paravertebral areas in association with vertebrae or ribs

Front 40

Ewing’s Sarcoma / PNET Ancillary Testing:

Back 40

Cytogenetics
90-95% of tumors are characterized by t(11;22)(q24;q22) involving EWS on 22q and FLI1 on 11q

Front 41

Ewing’s Sarcoma / PNET Prognosis/Treatment:

Back 41

Highly aggressive (previously 24 month survival < 25%)
Surgery, chemo and RT

Front 42

Misnomer (occurs in para-articular areas though has no relation to synovium)

Back 42

Synovial Sarcoma

Front 43

Synovial Sarcoma Signs/Symptoms:

Back 43

Deep-seated, painful mass
Age:
Adolescents and young adults (15-40 years)
Sex:
M > F

Front 44

Synovial Sarcoma Anatomic Distribution

Back 44

Extremities (knee, hip and shoulder)
Related to tendons, tendon sheaths and bursae
Rarely reported in nasopharynx, bone and solid organs

Front 45

Synovial Sarcoma Ancillary Testing

Back 45

IHC
Cytokeratin – positive in biphasic tumors
Cytogenetics
Consistent translocation t(X;18)(p11.2;q11.2) in 90% of tumors involving SYT gene on 18q and SSX gene on Xp

Front 46

Synovial Sarcoma Prognosis/Treatment

Back 46

Metastatic lesions in 50% of patients (lung)
5-year survival 36-82%
Surgery, chemo and RT