Soft tissue Tumors - Fibromatosis

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Soft tissue Tumors

Fibroblastic / myofibroblastic tumors

Fibromatosis – superficial

Reviewer: Komal Arora, M.D. (see Reviewers page)
Revised: 20 July 2012, last major update July 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

Palmar fibromatosis (Dupuytren’s contracture)

General
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● Nodular proliferative process of palmar aponeurosis, surrounding adipose and occasionally dermis, due to fibroblasts, myofibroblasts and fibrocytes
● Most common type of fibromatosis (1-2% of population), prevalence increases with age (24% at age 65+)

Epidemiology
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● 75% are men
● 50% are bilateral, 10% also have plantar disease, 1-4% have penile fibromatosis

Clinical description
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● Puckers overlying skin as it ages
● Causes flexion contracture of digits 4 and 5 due to cord-like expansion of digital aponeurotic slips
● Does not involve deep structures such as tendons or skeletal muscle
● May be caused by fibrogenic cytokines (J Hand Surg Br 2005;30:557)

Treatment
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● Observation, excision or incision of contracture band
● Often recurs

Clinical images
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Flexion contracture

Gross description
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● Small nodules or nodular masses associated with aponeurosis and subcutaneous fat, with gray-yellow-white cut surface (color depends on collagen content)

Micro description
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Proliferative phase:
● Uniform, plump, immature spindle cells (myofibroblasts and fibroblasts) with bland nuclei and indistinct nucleoli
● Moderate collagen and elongated vessels

Older lesions:
● More dense collagen, less cellularity
● Variable mitotic figures
● Occasional attachment to dermis or cartilaginous metaplasia
● Usually no infiltration of surrounding tissue beyond subcutis

Micro images
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Nodule of variably cellular fibroblastic tissue infiltrates an aponeurosis, with bland, uniform spindled cells in a dense hyalinized collagen stroma

Mitotic figures may be present in cellular regions but are never atypical

Various images

#1, #2, #3

Positive stains
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● Vimentin, variable muscle specific and smooth muscle actin (in proliferative phase)

Negative stains
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● Keratin, CD34

Electron microscopy description
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● Fibroblasts and myofibroblasts

Molecular
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● Near diploid, often +7 or +8, no gene amplifications or deletions (Cancer Genet Cytogenet 2008;183:6)
● Usually considered reactive not neoplastic (J Transl Med 2006;4:21)
● Aberrations in Wnt signaling pathway (N Engl J Med 2011;365:307, Plast Reconstr Surg 2012;129:921, Joint Bone Spine 2012;79:7), but no somatic mutations of beta-catenin genes unlike desmoid fibromatosis (Mod Pathol 2001;14:695)

Differential diagnosis
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● Fibrosarcoma: single large mass of deep soft tissue with intersecting bundles of cells whose nuclei have abnormal chromatin
● Epithelioid sarcoma: common in hands, but some cells have distinctive epithelioid appearance with abundant bright eosinophilic cytoplasm, also necrosis, keratin+, CD34+
● Desmoid tumors: rare in hand, dominant mass infiltrates skeletal muscle

Additional references
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● eMedicine, Stanford University, Wikipedia
● J Am Acad Orthop Surg 2011;19:746

Plantar fibromatosis (Ledderhose’s disease)

General
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● Nodular proliferative process of plantar aponeurosis and surrounding adipose due to fibroblasts, myofibroblasts and fibrocytes
● Heterogeneous group of conditions with plantar location, mature collagen and fibroblasts, but no malignant features (eMedicine)

Epidemiology
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● Common in boys < 10 years old and teenagers
● Associated with palmar and penile fibromatosis, also continuous phenobarbital treatment for epilepsy (Epilepsia 2008;49:1965)
● Usually NOT associated with contractures

Clinical description
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● Only 10-25% bilateral
● May be nodular
● Often presents with firm subcutaneous nodule or thickening associated with pain after standing or walking typically on the medial aspect of the sole
● Clinically resembles melanoma, synovial sarcoma, Kaposi’s sarcoma

Treatment
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● Observation, surgery if symptomatic, fasciectomy has fewer recurrences (25%) than local excision (100%, Plast Reconstr Surg 2008;122:486)

Clinical images
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Mass along medial plantar surface

Various images

Gross description
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● 2-3 cm nodules associated with aponeurosis and subcutis, with gray-yellow-white cut surface (color depends on collagen content)

Gross images
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Plantar nodules

Micro description
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Proliferative phase:
● Hypercellular collection of uniform, plump, immature spindle cells with bland nuclei and indistinct nucleoli
● Moderate collagen and elongated vessels
● Variable multinucleated giant cells (Am J Surg Pathol 2002;26:244)

Older lesions:
● Denser collagen, less cellularity
● Often prominent chronic inflammation, variable mitotic figures and hemosiderin

Positive stains
=========================================================================

● Vimentin, variable muscle specific and smooth muscle actin

Electron microscopy description
=========================================================================

● Fibroblasts and myofibroblasts

Molecular
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● Near diploid, often +7 or +8, no somatic mutations of beta-catenin genes unlike desmoid fibromatosis (Mod Pathol 2001;14:695)
● Reciprocal t(2;7)(p13;p13) (Cancer Genet Cytogenet 2005;158:67)

Differential diagnosis
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● Calcifying aponeurotic fibroma: plump or epithelioid fibroblasts palisading around cartilage and spotty calcification
● Desmoid fibromatosis: rare in feet, infiltrates skeletal muscle, > 3 cm, often beta-catenin+
● Fibrosarcoma: single large mass of deep soft tissue with intersecting bundles of cells with abnormal chromatin, herringbone pattern
● Monophasic synovial sarcoma: uniformly hypercellular, often staghorn vascular pattern or ropy collagen

Penile fibromatosis (Peyronie’s)

General
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● Fibrous thickening of dermis and Buck’s fascia between corpora cavernosa and tunica albuginea, causing curvature towards side of lesion and restricting movement of these structures during erection
● Etiology may be related to Parc protein (BJU Int 2010;106:1706) or Wnt2 (J Sex Med 2012;9:1430)

Epidemiology
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● Typically age 40+ years, rarely age 40 or less (J Androl 2003;24:27)
● Various etiologies (microvascular trauma - Int J Impot Res 2002;14:406, urethritis, sclerosing inflammatory process, idiopathic), appears to differ from other superficial fibromatoses (Curr Urol Rep 2004;5:478) although associated with them
● Prevalence 3-9% (Int J Impot Res 2002;14:379), associated with plaques, pain, induration, deviation, palmar fibromatosis (Int J Impot Res 2011;23:142)
● Usually dorsolateral penis, 30% have inflammatory component

Case reports
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● With ossification (Sao Paulo Med J 2007;125:124)

Treatment
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● May spontaneously regress, responds to small amounts of irradiation, steroids, other intralesional injections (J Androl 2009;30:397)
● Also plaque excision and grafting, other surgery (Eur Urol 2009;55:1469, Curr Urol Rep 2011;12:444)

Micro description
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● Disorganization of collagen of tunica albuginea with formation of nodules, often hyalinizing fibrosis, perivascular lymphocytic infiltrate in 1/3, linear band of calcification in 1/4 (J Urol 1997;157:282)

Micro images
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Metaplasia of bone in corpus spongiosum

Electron microscopy description
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● Penile plaques are composed of collagen fibrils, amorphous particulate material and fibroblasts (Int J Urol 1997;4:274)

Differential Diagnosis
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● Epithelioid hemangioma: J Med Case Rep 2011;5:260
● Epithelioid sarcoma: may clinically appear similar (Int J Impot Res 2003;15:378)

Additional references
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● Wikipedia

End of Soft Tissue Tumors > Fibroblastic / myofibroblastic tumors > Fibromatosis – superficial

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