Difference between revisions of "Fibroblastic/myofibroblastic tumours"

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DDx:
DDx:
*[[Hypertrophic scar]]-like lesion, see ''[[dermal scar]]''.
*[[Hypertrophic scar]]-like lesion, see ''[[dermal scar]]''.
*[[Gastrointestinal stromal tumour]].<ref name=pmid23020601>{{Cite journal  | last1 = Huss | first1 = S. | last2 = Nehles | first2 = J. | last3 = Binot | first3 = E. | last4 = Wardelmann | first4 = E. | last5 = Mittler | first5 = J. | last6 = Kleine | first6 = MA. | last7 = Künstlinger | first7 = H. | last8 = Hartmann | first8 = W. | last9 = Hohenberger | first9 = P. | title = β-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. | journal = Histopathology | volume = 62 | issue = 2 | pages = 294-304 | month = Jan | year = 2013 | doi = 10.1111/j.1365-2559.2012.04355.x | PMID = 23020601 }}</ref>
*[[Gastrointestinal stromal tumour]]<ref name=pmid23020601>{{Cite journal  | last1 = Huss | first1 = S. | last2 = Nehles | first2 = J. | last3 = Binot | first3 = E. | last4 = Wardelmann | first4 = E. | last5 = Mittler | first5 = J. | last6 = Kleine | first6 = MA. | last7 = Künstlinger | first7 = H. | last8 = Hartmann | first8 = W. | last9 = Hohenberger | first9 = P. | title = β-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. | journal = Histopathology | volume = 62 | issue = 2 | pages = 294-304 | month = Jan | year = 2013 | doi = 10.1111/j.1365-2559.2012.04355.x | PMID = 23020601 }}</ref>
- reported in abdominal wall.<ref name=pmid15257404>{{Cite journal  | last1 = Thalheimer | first1 = A. | last2 = Meyer | first2 = D. | last3 = Gattenlöhner | first3 = S. | last4 = Timmermann | first4 = W. | last5 = Thiede | first5 = A. | title = [Gastrointestinal stromal tumor of the abdominal wall. An unusual localization of a rare tumor]. | journal = Chirurg | volume = 75 | issue = 7 | pages = 708-12 | month = Jul | year = 2004 | doi = 10.1007/s00104-003-0696-5 | PMID = 15257404 }}</ref>
*[[Retroperitoneal fibrosis]] - no beta-catenin staining.<ref name=pmid23020601/>
*[[Retroperitoneal fibrosis]] - no beta-catenin staining.<ref name=pmid23020601/>
*Other [[fibromatoses]].
*Other [[fibromatoses]].

Revision as of 19:39, 6 November 2013

This article covers fibroblastic/myofibroblastic tumours. These tumours fit into the larger category of soft tissue lesions.

List of tumours

Benign

WHO classification:[1]

Locally aggressive

WHO classification:[1]

Occasionally metastasizing

WHO classification:[2]

Malignant

WHO classification:[2]

Non-malignant

Proliferative fasciitis

General

  • Benign.
  • May mimic a sarcoma.[3]

Clinical:

  • Solid subcutaneous nodule.
  • Rapid growth.
  • May be painful.

Gross

  • Classically upper and lower extremities.[3]
  • Poorly demarcated.

Microscopic

Features:[4]

  • Large polygonal (ganglion-like) and/or spindled cells with:
    • Vesicular (clear) nuclei.
    • Prominent nucleoli.
  • +/-Binucleation.
  • Loose myxoid stroma.
  • Frequent typical mitoses.
    • No atypical mitoses.

DDx:

Images:

Proliferative myositis

General

  • Benign.
  • Possible arise from pericytes.[6]

Microscopic

Features:[6][7]

  • Large ganglion-like cells.
    • Cells have single prominent nucleolus.
  • Spindle cells.
  • +/-Binucleation.
  • Mitotic activity.
    • No atypical mitoses.

Image:

IHC

Features:[6]

  • Vimentin +ve.
  • SMA +ve.
  • Desmin +ve/-ve.

Others:[6]

  • Factor XIIIa -ve.
  • S100 -ve.
  • CAM5.2 -ve.
  • NSE -ve.

Elastofibroma

General

  • Benign.
  • Classically, subscapular in elderly women.[8][9]

Gross

Features:

  • Yellow-white, moderate demarcation to surrounding tissue.[10]

DDx - shoulder lesions:

Microscopic

Features:

  • Thick bundles of collagen.
  • Elastin fibres.

Image:

Nodular fasciitis

Desmoid-type fibromatosis

  • AKA desmoid tumour.
  • AKA desmoid fibromatosis.

General

Microscopic

Features:[12][13]

  • "Sweeping fascicles"/bundles.
  • Spindle cells with:
    • Small slender nuclei.
    • Solid dark eosinophilic cytoplasm.
  • +/-Mitoses - may be abundant.
  • Long thin-walled vessels - parallel to one another - important feature.

DDx:

- reported in abdominal wall.[15]

Images

www:

IHC

Features:[12]

  • Beta-catenin +ve (nuclear[14]) - important.
  • SMA +ve ~50% of lesions.

Others:

  • CD117 -ve.

Lipofibromatosis

  • AKA infantile subcutaneous fibromatosis.

General

  • Childhood.

Microscopic

Features:[12]

  • Fibroblastic cells surrounding adipocytes.

Image:

IHC

Features:[12]

  • CD34 +ve.
  • BCL2 +ve.
  • S100 +ve.
  • CD99 +ve.
  • Actin +ve.
  • EMA +ve.

Desmoplastic fibroblastoma

General

  • Benign lesion.

Epidemiology:

  • May be on the lip.
  • Male:female ~= 5:1.[19]
  • Age - typically 40s & 50s.[19]

Gross

  • Classically found in the shoulder region.

DDx - shoulder region:

Microscopic

Features:[20][21]

  • Spindle cells or stellate cells without nuclear atypia.
  • Acellular stroma with abundant collagen - key feature.
  • +/-Myxoid areas.
  • +/-Rare mitoses.

DDx:[20]

Images:

IHC

Features:[20]

Molecular

  • llq12 breakpoint described as being characteristic -- possibly the FOSL1 gene.[23]

Calcifying fibrous tumour

General

  • Rare.
  • Benign.

Microscopic

Features:[24]

  • Submucosal circumscribed fibrocollagenous nodule.
  • Psammomatous calcifications.
  • Focal plasma cells at the periphery.

Myofibroma

General

  • Benign.
  • Often < 2 years old; however, may be seen in adults.
  • Not common.[25]

Gross

  • Classically (oral) locations: tongue, buccal mucosa, lip.[25]

Microscopic

Features:[25]

  • Spindle cells with:
    • Tapering nuclei.
    • Eosinophilic cytoplasm.

Note:

DDx:

IHC

Features:[25]

  • Vimentin +ve.
  • SMA +ve.
  • S-100 -ve,

Cellular angiofibroma

General

Gross

Features:[27]

  • Superficial.
  • Well-circumscribed.

Classic location:

Microscopic

Features:[27]

  • Spindle cell lesion.
  • Many small-to-medium blood vessls.

IHC

Features:[27]

  • CD34 ~50% of cases.
  • SMA ~41% of cases.
  • CD99 -ve.
  • EMA -ve.

Occasionally metastasizing

Inflammatory myofibroblastic tumour

  • AKA inflammatory pseudotumour, AKA inflammatory fibrosarcoma,[28] AKA plasma cell granuloma.[29][30]

General

  • Mostly benign.
  • Children & young adults.
  • Classically located in mesentery of ileocolic region or small bowel.[28]

Microscopic

Features:[28]

  • Inflammation:
  • Spindle cells without atypia.
  • +/-Fasciular architecture.
  • Mitoses -- though none atypical.
  • +/-Necrosis.
  • +/-Hemorrhage.
  • Calcifications.

DDx:

Notes:

  • Some consider this a wastebasket diagnosis... for benign appearing spindle cell lesions.[32]

Images:

IHC

Features - dependent on site:

  • SMA +ve.[33]
  • Vimentin +ve.

Variable staining with:

Negative:[33]

  • S100, CD117, CD68.

Molecular

  • ALK rearrangements.[31]

Low-grade myofibroblastic sarcoma

General

  • Rare ~ 100 cases in the literature.
  • Usu. oral cavity or extremities.[35]

Microscopic

Features:

  • Spindle cells in the storiform pattern[35] or in fasicles.
  • Rare mitoses.

Images:

DDx:

IHC

  • SMA +ve.
  • CD34 -ve.
  • CD117 -ve.[35]
  • H-caldesmon -ve.[35]


Congenital-infantile fibrosarcoma

Should not be confused with adult fibrosarcoma.

General

  • Locally aggressive.

Microscopic

Features:[36]

  • Spindle cell lesion.

Molecular

Characteristic translocation:[37]

Solitary fibrous tumour

Hemangiopericytoma

General

  • Grouped with solitary fibrous tumour in the WHO classification; possibly the same tumour (?).[12]
  • Arises from the pericyte, a connective tissue cell of small vessels that is thought to be involved in flow regulation.
  • Hematologic spread most common - to lungs.[38]
  • Oncogenic osteomalacia - assoc. with hemangiopericytoma.[38]

Presentation

  • Usually painless mass, slow enlargement.

Radiology

  • Intramedullary lytic mass.
  • May be well-circumscribed.
  • +/-Periosteal reaction.
  • +/-Sclerotic border.

May be worked-up with angiography to distinguish from a vascular malformation.[39]

Location

  • Usually extremities - femur or proximal tibial.[38]

Microscopic

Features:[39]

  • Hypervascular lesion - key diagnostic feature.[40]
    • Abundant thin-walled branching small vessels of variable size.
      • May be described as "staghorn vessels" or "antler-like" vasculature.
      • Cells may "onion-skin" around thin blood vessels.
  • Spindle or ovoid shaped cells in nests or sheets.

DDx:

IHC

Features:[12][40]

  • Vimentin +ve (usually).
  • Desmin -ve (typical).
  • Factor VIII -ve (marks endothelium).
  • CD34 +ve.
    • CD34 usu. -ve in synovial sarcoma.
  • CD31 -ve (marks benign endothelium).
  • vWF (von Willebrand factor) -ve.

May be in the DDx for meningioma:[41]

  • EMA -ve.
  • S100 -ve.

Malignant

Low-grade fibromyxoid sarcoma

  • AKA hyalinizing spindle cell tumour.
  • Should not be confused with myxofibrosarcoma.
  • Abbreviated LGFMS.

General

  • Deep soft tissue.
  • Related to hyalinizing spindle cell tumour with giant collagen rosettes.[42]

Microscopic

Features:[43]

  • Myxoid stroma alternating with fibrogenic areas - key feature.
  • Low cellularity.
  • Spindle cells.
  • +/-Rosette of collagen with central hyaline core.[44]

Notes:

  • Few/absent mitoses.

DDx:

Images:

IHC

Features:[44]

  • EMA +ve.
  • CD99 +ve.
  • BCL2 +ve.

Others:[44]

  • SMA -ve.
  • S100 -ve.
  • Desmin -ve.

Molecular pathology

Adult fibrosarcoma

General

  • Malignant.
  • Older adults.
  • Locations: head & neck, extremities.

Microscopic

Feature:[44]

  • Spindle cell lesion.
  • Herring bone pattern - key feature.
  • Mitoses.

DDx (herring bone):

  • MPNST.
  • Synovial sarcoma.
  • Fibrosarcoma.

DDx:

Images:

IHC

Features:[44]

  • Vimentin.
  • SMA.

Myxofibrosarcoma

General

Microscopic

Features:[48]

  • Discontinuous fibrous septae.
  • Myxoid background.
  • Variable cellularity and nuclear pleomorphism.
  • Spindle cells or epithelioid cells.[49]
  • Curvilinear vessels.[49]

DDx:

Image:

IHC

  • Vimentin +ve -- otherwise non-distinctive.[48]

See also

References

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  2. 2.0 2.1 Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 602. ISBN 978-0781765275.
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