soft tissue pathology
Download
Skip this Video
Download Presentation
Soft Tissue Pathology

Loading in 2 Seconds...

play fullscreen
1 / 118

Soft Tissue Pathology - PowerPoint PPT Presentation


  • 823 Views
  • Uploaded on

Soft Tissue Pathology. Richard Anderson, MD President, Associated Pathology Consultants, S.C. Edward Hospital & Elmhurst Memorial Hospital Clinical Instructor, Department of Pathology, UIC College of Medicine Chairman of the Board, Heartland Blood Centers. UIC M2 Pathology - 2004.

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

PowerPoint Slideshow about 'Soft Tissue Pathology' - sveta


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
soft tissue pathology

Soft Tissue Pathology

Richard Anderson, MD

President, Associated Pathology Consultants, S.C.

Edward Hospital & Elmhurst Memorial Hospital

Clinical Instructor, Department of Pathology, UIC College of Medicine

Chairman of the Board, Heartland Blood Centers

UIC M2 Pathology - 2004

soft tissue
Soft Tissue
  • Fibrous tissue
  • Adipose tissue
  • Synovial tissue
  • Skeletal muscle
  • Blood vessels
  • Peripheral nerves
tumors and tumor like conditions of fibrous tissue
Tumors and Tumor-Like Conditions of Fibrous Tissue
  • Benign
      • Nodular Fasciitis
      • Palmar fibromatosis
      • Abdominal fibromatosis (desmoid tumor)
  • Malignant
      • Fibrosarcoma
nodular fasciitis
Nodular Fasciitis
  • Self-limiting pseudosarcomatous process composed of fibroblasts and myofibroblasts
  • Most common lesion misdiagnosed as sarcoma
  • Rapidly growing, richly cellular with mitoses
  • Related to trauma?
nodular fasciitis5
Nodular Fasciitis
  • Signs/Symptoms:
      • Rapidly growing solitary mass lesion over 1-2 weeks often at site of previous trauma
      • 50% of lesions are painful
      • Numbness or paresthesia if compression of peripheral nerve
  • Age:
      • Young adults (20-40 years)
  • Sex:
      • M = F
nodular fasciitis6
Nodular Fasciitis
  • Anatomic Distribution:
      • May occur anywhere in the body, though predilection for upper extremities (volar surface of forearm), chest wall, back, head & neck and lower extremities
      • Hands and feet uncommon
      • Head & neck most common in children and infants
nodular fasciitis7
Nodular Fasciitis
  • Gross Findings:
      • Well-circumscribed, non-encapsulated
      • Most lesions small (< 2.0 cm); lesions up to 10.5 cm have been described
      • Divided into subcutaneous, intramuscular and fascial subtypes
nodular fasciitis8
Nodular Fasciitis
  • Microscopic Findings:
      • Proliferating fibroblasts and myofibroblasts in short irregular bundles
      • Reticulin stromal fibrosis
      • Mitotic activity
      • Cellular and myxoid areas
      • Lipid-filled macrophages and giant cells
nodular fasciitis12
Nodular Fasciitis
  • Ancillary Testing:
      • IHC
          • Actin – positive
          • Cytokeratin and S100 – negative
  • Prognosis/Treatment:
      • Benign process
      • Surgical excision curative
palmar fibromatosis dupuytren s contracture
Palmar Fibromatosis (Dupuytren’s Contracture)
  • Benign fibrous tissue proliferation
  • More common in Northern Europeans; rare in Blacks
  • Genetic component?
  • Association with unrelated diseases and social behaviors:
          • Types I and II DM
          • Epilepsy
          • Alcoholism
          • Hypercholesterolemia
          • Cigarette smoking
          • Manual labor
palmar fibromatosis
Palmar Fibromatosis
  • Signs/Symptoms:
      • Slow growing nodule of hand progression to cord-like band with contracture of 4th or 5th digit
  • Age:
      • Older adults (20% over 65 years); rare in children
  • Sex:
      • M >>> F
  • Anatomic Distribution:
      • Palmar surface of hand (R > L)
      • 50% of cases bilateral
palmar fibromatosis19
Palmar Fibromatosis
  • Ancillary Testing:
      • N/A
  • Treatment:
      • Surgical excision
          • Recurrence is high unless dermis and fascia are removed
abdominal fibromatosis abdominal desmoid tumor
Abdominal Fibromatosis (Abdominal Desmoid Tumor)
  • Locally more aggressive than superficial fibromatoses
  • High recurrence rate
  • Previous trauma
  • Common in patients with Gardner’s syndrome
          • Autosomal dominant
          • Colonic polyposis
          • Fundic gland polyps
          • Soft tissue and bone tumors
  • Estrogen?
abdominal fibromatosis
Abdominal Fibromatosis
  • Signs/Symptoms:
      • Deep-seated, poorly-circumscribed firm mass in abdominal wall
      • Little to no pain
  • Age:
      • Young adults (20-30 years)
  • Sex:
      • F >>>>>>> M
      • Gravid or parous females
  • Anatomic Distribution:
      • Muscles and fascia of rectus abdominus and internal oblique
abdominal fibromatosis24
Abdominal Fibromatosis
  • Gross Findings:
      • Poorly-circumscribed tumors
      • Off-white and firm
      • 3-10 cm in diameter
  • Microscopic Findings:
      • Proliferating spindle cells in bundles surrounded by collagen
      • Limited mitoses
abdominal fibromatosis28
Abdominal Fibromatosis
  • Ancillary Testing:
      • N/A
  • Prognosis/Treatment:
      • Surgical excision
      • Recurrence rate 15-30%
      • Local radiation
fibrosarcoma
Fibrosarcoma
  • Malignant mesenchymal tumor
  • Variety of microscopic appearances
  • Tumors arise from intramuscular and intermuscular fibrous tissue, fascia, aponeuroses or tendons
fibrosarcoma30
Fibrosarcoma
  • Signs/Symptoms:
      • Solitary palpable mass (3.0 to 8.0 cm)
      • Slow-growing
      • 1/3 of cases present with pain
  • Age:
      • Adult-type
          • 30-55 years
      • Infantile type
          • First 2 years of life
          • Congenital
  • Sex:
      • M > F
fibrosarcoma31
Fibrosarcoma
  • Anatomic Distribution:
      • Adult-type
          • Deep soft tissues of lower extremities
          • Upper extremities; head & neck
          • Rare organ involvement (heart, lung, liver, CNS)
      • Infantile-type
          • Distal extremities
  • Gross Findings:
      • Solitary, lobulated, circumscribed and frequently encapsulated
      • May invade adjacent structures
slide36

Prominent mitotic activity; little pleomorphism; anaplastic tumor cells or giant cells are not seen

fibrosarcoma37
Fibrosarcoma
  • Ancillary Testing:
      • IHC
          • Vimentin – positive
          • Cytokeratin and S100 – negative
          • Actin – variable
  • Prognosis/Treatment:
      • Local recurrence rate 50%
      • Metastasis via bloodstream to lung and bone
      • 5-year survival
          • Adult-type: 80% for grade 1; 21% for grade 4
          • Infantile-type: > 80%
      • Wide surgical excision, RT, chemo
tumors and tumor like conditions of fibrohistiocytic origin
Tumors and Tumor-Like Conditions of Fibrohistiocytic Origin
  • Benign:
      • Benign Fibrous Histiocytoma (Dermatofibroma)
  • Intermediate:
      • Dermatofibrosarcoma Protuberans (DFSP)
  • Malignant:
      • Malignant Fibrous Histiocytoma (MFH)
benign fibrous histiocytoma
Benign Fibrous Histiocytoma
  • Signs/Symptoms:
      • Solitary slow-growing nodule of skin
      • Often elevated or pedunculated
      • 1/3 of cases multiple
  • Age:
      • Young adults to mid-adulthood (20-45 years)
  • Sex:
      • M = F
  • Anatomic Distribution:
      • Most common on distal extremities
slide41

Poorly-circumscribed, non-encapsulated, cellular proliferation in dermis; fibroblastic cells arranged in “storiform” pattern; numerous foreign body (Touton) giant cells; Mitoses rare to absent

benign fibrous histiocytoma42
Benign Fibrous Histiocytoma
  • Ancillary Testing:
      • N/A
  • Prognosis/Treatment:
      • Simple surgical excision
      • < 5% recurrence
dermatofibrosarcoma protuberans
Dermatofibrosarcoma Protuberans
  • Signs/Symptoms:
      • Slow-growing, non-painful tumor
      • Antecedent trauma in 10-20% of cases
  • Age:
      • Younger than dermatofibroma
  • Sex:
      • M > F
  • Anatomic Distribution:
      • Trunk, groin and proximal extremities (as opposed to dermatofibroma)
dermatofibrosarcoma protuberans48
Dermatofibrosarcoma Protuberans
  • Ancillary Testing:
      • IHC
          • CD34 – positive
      • Cytogenetics
          • Supernumerary ring structure formed by amplified sequences from chromosomes 17 and 22
          • Fusion of COL1A1 and PDGF genes
          • Overexpression of PDGF may lead to DFSP
  • Prognosis/Treatment:
      • Locally aggressive; recurs in 50% of cases
      • Rarely metastasizes (<4% of cases)
      • Wide surgical excision; RT for large tumors or positive margins
malignant fibrous histiocytoma
Malignant Fibrous Histiocytoma
  • Most common sarcoma of late adult life
  • May occur secondary to previous RT
  • Signs/Symptoms:
      • Painless, enlarging mass if on extremity
      • Retroperitoneal tumors may present with obstruction and anorexia
      • Fever and leukocytosis
          • Tumor production of IL-6, IL-8 and TNF
  • Age:
      • Late adulthood (50-70 years)
  • Sex:
      • M >> F (70% of MFH in men)
malignant fibrous histiocytoma50
Malignant Fibrous Histiocytoma
  • Anatomic Distribution:
      • Lower extremities (thigh), followed by upper extremities and retroperitoneum
  • Gross Findings:
      • Solitary, multilobulated fleshy masses
      • 5-10 cm
      • Two-thirds within skeletal muscle
      • Prominent areas of hemorrhage and necrosis
malignant fibrous histiocytoma53
Malignant Fibrous Histiocytoma
  • Ancillary Testing:
      • > 80% show some cytogenetic abnormality
  • Prognosis/Treatment:
      • Local recurrence rate between 19-31%
      • Metastatic rate between 31-35%
          • Most common site is lung
          • Usually within 12-24 months of diagnosis
      • Treatment by wide radical excision
      • RT and chemo
tumors and tumor like conditions of adipose tissue
Tumors and Tumor-Like Conditions of Adipose Tissue
  • Benign:
      • Lipoma
  • Malignant:
      • Liposarcoma
lipoma
Lipoma
  • Most common mesenchymal neoplasm
  • Tumors may be single, multiple, superficial or deep
  • Signs/Symptoms:
      • Painless (except angiolipoma),soft, solitary, mobile mass
  • Age:
      • Adults (40-60 years)
      • Rare in 1st 2 decades
  • Sex:
      • M > F
lipoma56
Lipoma
  • Anatomic Distribution:
      • Upper back, neck, shoulder and abdomen, proximal extremities, buttocks and upper thigh
      • Seldom in face,hands or feet
  • Gross Findings:
      • Soft, well-circumscribed, thinly-encapsulated rounded masses
      • Few millimeters to > 10 cm
  • Microscopic Findings:
      • Mature adipose tissue
      • Many histologic subtypes
slide58

Angiolipoma

Spindle cell lipoma

lipoma59
Lipoma
  • Ancillary Testing:
      • 50-80% have clonal cytogenetic abnormalities with most common alteration involving translocations of 12q
  • Prognosis/Treatment:
      • Simple surgical excision
      • Recurrence rate < 5%
liposarcoma
Liposarcoma
  • Signs/Symptoms:
      • Extremity tumors develop as slow-growing masses
      • Retroperitoneal tumors are associated with abdominal symptoms
  • Age:
      • Late adult life (60-70 years)
      • Myxoid and round cell subtypes occur in 5th decade
  • Sex:
      • M = F
  • Anatomic Distribution:
      • Deep muscles of extremities or retroperitoneum
slide67

Myxoid

Inflammatory

Round Cell

liposarcoma68
Liposarcoma
  • Ancillary Testing:
      • Well-differentiated liposarcomas often possess a giant ring chromosome (RCG) involving chromosome 12
      • Myxoid liposarcomas are characterized by t(12;16)(q13;p11) resulting in fusion of CHOP gene with TLS gene. CHOP encodes a DNA transcription factor and TLS encodes an RNA binding protein
  • Prognosis/Treatment:
      • Well-differentiated tumors of extremities recur around 50% of time though rarely cause death
      • Poorly differentiated tumors of retroperitoneum often recur, metastasize to lung and bone and have a 5-year survival of 20%
      • Surgery with chemo and RT
rhabdomyosarcoma
Rhabdomyosarcoma
  • Most common soft tissue sarcoma of children under 15 years of age
  • Signs/Symptoms:
      • 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
rhabdomyosarcoma71
Rhabdomyosarcoma
  • Anatomic Distribution:
      • Head and neck; GU tract and retroperitoneum; upper and lower extremities
  • Gross Findings:
      • 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
slide79

Embryonal Rhabdomyosarcoma

Alveolar Rhabdomyosarcoma

rhabdomyosarcoma80
Rhabdomyosarcoma
  • Ancillary Testing:
      • 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
  • Prognosis/Treatment
      • 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
tumors and tumor like conditions of blood vessels
Tumors and Tumor-Like Conditions of Blood Vessels
  • Benign:
      • Hemangioma
  • Malignant:
      • Angiosarcoma
hemangioma
Hemangioma
  • Most common benign soft tissue tumor of infancy and childhood
  • Signs/Symptoms:
      • Painless blue or red nodule
  • Age:
      • Childhood
  • Sex:
      • F > M
  • Anatomic Distribution:
      • Predilection for head & neck
      • Internal tumors of the liver
hemangioma85
Hemangioma
  • Ancillary Testing:
      • N/A
  • Prognosis/Treatment:
      • Surgical excision
      • INF- for complex or multiple lesions
      • Hemangiomas do NOT undergo malignant transformation
angiosarcoma
Angiosarcoma
  • Rare
  • Chronic lymphedema and previous RT predispose to angiosarcoma
  • Signs/Symptoms:
      • Ill-defined bruise with indurated border
      • Edema, ulceration and necrosis
  • Age:
      • Elderly
  • Sex:
      • F > M
  • Anatomic Distribution:
      • Predilection for skin and superficial soft tissue
      • Rarely arise from major vessels
angiosarcoma88
Angiosarcoma
  • Ancillary Testing:
      • IHC
          • CD34 and CD31 – positive
      • Cytogenetics
          • No consistent abnormality
  • Prognosis/Treatment:
      • POOR – 5-year survival 10-20%
      • Metastasis to lung, liver, spleen and lymph nodes
tumors and tumor like conditions of peripheral nervous tissue
Tumors and Tumor-Like Conditions of Peripheral Nervous Tissue
  • Benign:
      • Schwannoma (Neurilemoma)
      • Neurofibroma
  • Malignant:
      • Malignant Peripheral Nerve Sheath Tumor (MPNST)
schwannoma
Schwannoma
  • 90% of tumors are sporadic
  • Signs/Symptoms:
      • Freely mobile, non-painful lesion
  • Age:
      • All ages; most common between 20-50 years
  • Sex:
      • M = F
  • Anatomic Distribution:
      • Head & neck, flexor surfaces of upper and lower extremities
schwannoma95
Schwannoma
  • Ancillary Testing:
      • IHC
          • S100 – positive
  • Prognosis/Treatment:
      • Simple surgical excision
neurofibroma
Neurofibroma
  • Growth pattern may be localized, diffuse or plexiform
  • Diffuse and plexiform tumors occur in the setting of neurofibromatosis type I (NF1) aka, von Recklinghausen’s disease
  • Localized tumors are sporadic and not associated with NF1
neurofibromatosis type 1
Neurofibromatosis type 1
  • 1 in every 2500 to 3000 live births
  • Autosomal dominant with high penetrance
  • 50% of cases are new mutations
  • Associated with deletions, insertions or mutations of the NF1 tumor suppressor gene on chromosome 17.
  • NF1 encodes for neurofibromin
  • Café au lait spots; multiple neurofibromas involving skin, GI tract, larynx, blood vessels and heart
  • CNS tumors (optic gliomas and astrocytomas)
  • Asymptomatic pigmentation of iris (Lisch nodules)
  • Skeletal abnormalities in 40% of cases)
  • MALIGNANT TRANSFORMATION in a small percentage of cases (<4%)
neurofibroma98
Neurofibroma
  • Signs/Symptoms:
      • Slow-growing, painless nodules
  • Age:
      • Young adults (20-30 years)
  • Sex:
      • M = F
  • Anatomic Distribution:
      • Dermis throughout the body (internally if NF1)
neurofibroma104
Neurofibroma
  • Ancillary Testing:
      • IHC
          • S100 – positive (to a lesser extent than schwannoma)
  • Prognosis/Treatment:
      • Localized tumors removed by surgical excision
      • Surgery reserved only for large and painful lesions in patients with NF1
malignant peripheral nerve sheath tumor
Malignant Peripheral Nerve Sheath Tumor
  • 25-50% of tumors found in patients with NF1
  • Signs/Symptoms:
      • Mass lesion
  • Age:
      • 20-50 years
  • Sex:
      • M = F
  • Anatomic Distribution:
      • Most arise in association with major nerve trunks (sciatic nerve, brachial and sacral plexi)
  • Gross Findings:
      • Eccentric masses (> 5 cm) with hemorrhage and necrosis
malignant peripheral nerve sheath tumor107
Malignant Peripheral Nerve Sheath Tumor
  • Ancillary Testing:
      • IHC
          • S100 – variable (weak if present)
  • Prognosis/Treatment:
      • Local recurrence rate between 40-60%
      • 5-year survival 50%
      • Metastasis to bone, lung and pleura
      • Surgery, chemo and RT
tumors of primitive neuroectodermal origin
Tumors of Primitive Neuroectodermal Origin
  • Malignant:
      • Extraskeletal Ewing’s Sarcoma / Primitive Neuroectodermal Tumor (PNET)
ewing s sarcoma pnet
Ewing’s Sarcoma / PNET
  • Signs/Symptoms:
      • Rapidly growing deep-seated masses
  • Age:
      • Young adults (usually < 30 years)
  • Sex:
      • M > F
  • Anatomic Distribution:
      • 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
ewing s sarcoma pnet112
Ewing’s Sarcoma / PNET
  • Ancillary Testing:
      • Cytogenetics
          • 90-95% of tumors are characterized by t(11;22)(q24;q22) involving EWS on 22q and FLI1 on 11q
  • Prognosis/Treatment:
      • Highly aggressive (previously 24 month survival < 25%)
      • Surgery, chemo and RT
tumors of uncertain type
Tumors of Uncertain Type
  • Malignant:
      • Synovial Sarcoma
synovial sarcoma
Synovial Sarcoma
  • Misnomer (occurs in para-articular areas though has no relation to synovium)
  • Signs/Symptoms:
      • Deep-seated, painful mass
  • Age:
      • Adolescents and young adults (15-40 years)
  • Sex:
      • M > F
  • Anatomic Distribution:
      • Extremities (knee, hip and shoulder)
      • Related to tendons, tendon sheaths and bursae
      • Rarely reported in nasopharynx, bone and solid organs
slide116

Biphasic

Monophasic

synovial sarcoma117
Synovial Sarcoma
  • Ancillary Testing:
      • 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
  • Prognosis/Treatment:
      • Metastatic lesions in 50% of patients (lung)
      • 5-year survival 36-82%
      • Surgery, chemo and RT
ad