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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.

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Soft Tissue Pathology

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Soft tissue pathology l.jpg

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 l.jpg

Soft Tissue

  • Fibrous tissue

  • Adipose tissue

  • Synovial tissue

  • Skeletal muscle

  • Blood vessels

  • Peripheral nerves


Tumors and tumor like conditions of fibrous tissue l.jpg

Tumors and Tumor-Like Conditions of Fibrous Tissue

  • Benign

    • Nodular Fasciitis

    • Palmar fibromatosis

    • Abdominal fibromatosis (desmoid tumor)

  • Malignant

    • Fibrosarcoma


  • Nodular fasciitis l.jpg

    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 l.jpg

    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 l.jpg

    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 l.jpg

    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 l.jpg

    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 l.jpg

    Nodular Fasciitis

    • Ancillary Testing:

      • IHC

        • Actin – positive

        • Cytokeratin and S100 – negative

  • Prognosis/Treatment:

    • Benign process

    • Surgical excision curative


  • Palmar fibromatosis dupuytren s contracture l.jpg

    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 l.jpg

    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


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    Plump immature fibroblasts with uniform appearance and no mitotic activity


    Slide18 l.jpg

    Plump immature fibroblasts with uniform appearance and no mitotic activity


    Palmar fibromatosis19 l.jpg

    Palmar Fibromatosis

    • Ancillary Testing:

      • N/A

  • Treatment:

    • Surgical excision

      • Recurrence is high unless dermis and fascia are removed


  • Abdominal fibromatosis abdominal desmoid tumor l.jpg

    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 l.jpg

    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 l.jpg

    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 l.jpg

    Abdominal Fibromatosis

    • Ancillary Testing:

      • N/A

  • Prognosis/Treatment:

    • Surgical excision

    • Recurrence rate 15-30%

    • Local radiation


  • Fibrosarcoma l.jpg

    Fibrosarcoma

    • Malignant mesenchymal tumor

    • Variety of microscopic appearances

    • Tumors arise from intramuscular and intermuscular fibrous tissue, fascia, aponeuroses or tendons


    Fibrosarcoma30 l.jpg

    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 l.jpg

    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


  • Slide35 l.jpg

    Cellular tumors comprised of fusiform spindle cells


    Slide36 l.jpg

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


    Fibrosarcoma37 l.jpg

    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 l.jpg

    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 l.jpg

    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


  • Slide40 l.jpg

    Small red-brown to blue nodules


    Slide41 l.jpg

    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 l.jpg

    Benign Fibrous Histiocytoma

    • Ancillary Testing:

      • N/A

  • Prognosis/Treatment:

    • Simple surgical excision

    • < 5% recurrence


  • Dermatofibrosarcoma protuberans l.jpg

    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)


  • Slide44 l.jpg

    Solitary masses of subcutis and skin; average size 5.0 cm


    Slide45 l.jpg

    May lead to ulceration of overlying skin with associated hemorrhage and cystic change


    Slide46 l.jpg

    Cellular tumors of dermis and subcutis; slender fibroblasts in monotonous storiform pattern


    Slide47 l.jpg

    Little pleomorphism with low to moderate mitotic activity


    Dermatofibrosarcoma protuberans48 l.jpg

    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 l.jpg

    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 l.jpg

    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


  • Slide51 l.jpg

    Varied microscopic appearance with pleomorphic tumor cells


    Malignant fibrous histiocytoma53 l.jpg

    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 l.jpg

    Tumors and Tumor-Like Conditions of Adipose Tissue

    • Benign:

      • Lipoma

  • Malignant:

    • Liposarcoma


  • Lipoma l.jpg

    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 l.jpg

    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 l.jpg

    Angiolipoma

    Spindle cell lipoma


    Lipoma59 l.jpg

    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 l.jpg

    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 l.jpg

    Myxoid

    Inflammatory

    Round Cell


    Liposarcoma68 l.jpg

    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


  • Tumors and tumor like conditions of skeletal muscle l.jpg

    Tumors and Tumor-Like Conditions of Skeletal Muscle

    • Malignant

      • Rhabdomyosarcoma


    Rhabdomyosarcoma l.jpg

    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 l.jpg

    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 l.jpg

    Embryonal Rhabdomyosarcoma

    Alveolar Rhabdomyosarcoma


    Rhabdomyosarcoma80 l.jpg

    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 l.jpg

    Tumors and Tumor-Like Conditions of Blood Vessels

    • Benign:

      • Hemangioma

  • Malignant:

    • Angiosarcoma


  • Hemangioma l.jpg

    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 l.jpg

    Hemangioma

    • Ancillary Testing:

      • N/A

  • Prognosis/Treatment:

    • Surgical excision

    • INF- for complex or multiple lesions

    • Hemangiomas do NOT undergo malignant transformation


  • Angiosarcoma l.jpg

    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 l.jpg

    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 l.jpg

    Tumors and Tumor-Like Conditions of Peripheral Nervous Tissue

    • Benign:

      • Schwannoma (Neurilemoma)

      • Neurofibroma

  • Malignant:

    • Malignant Peripheral Nerve Sheath Tumor (MPNST)


  • Schwannoma l.jpg

    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 l.jpg

    Schwannoma

    • Ancillary Testing:

      • IHC

        • S100 – positive

  • Prognosis/Treatment:

    • Simple surgical excision


  • Neurofibroma l.jpg

    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 l.jpg

    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 l.jpg

    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 l.jpg

    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 l.jpg

    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 l.jpg

    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 l.jpg

    Tumors of Primitive Neuroectodermal Origin

    • Malignant:

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


    Ewing s sarcoma pnet l.jpg

    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 l.jpg

    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 l.jpg

    Tumors of Uncertain Type

    • Malignant:

      • Synovial Sarcoma


    Synovial sarcoma l.jpg

    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 l.jpg

    Biphasic

    Monophasic


    Synovial sarcoma117 l.jpg

    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


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