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Disclosures I have nothing to disclose. Pleomorphic sarcomas: MFH, where did you go? Andrew Horvai, MD, PhD Clinical Professor, Pathology 78 year old man Questions Where did the diagnosis of MFH come from? Slowly growing 15 cm soft


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Pleomorphic sarcomas: MFH, where did you go? Andrew Horvai, MD, PhD Clinical Professor, Pathology

Disclosures

I have nothing to disclose.

78 year old man

Slowly growing 15 cm soft tissue mass in the thigh

Deep but does not involve bone

Biopsy at referring hospital read as “MFH”

Questions

฀ Where did the diagnosis of MFH come from? ฀ How can we subclassify pleomorphic sarcomas? ฀ What are meaningful clinicopathologic categories of

pleomorphic sarcomas?

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Where did MFH come from?

1960s: Stout et al. multiple reports of “fibrous xanthoma” and “histiocytoma”

Cultured cells from MFH (Ozello, Stout and Murray)

฀ Initially ameboid movement, phagocytosis  histiocytes ฀ Later, bipolar spindled cells  fibroblasts ฀ “Facultative fibroblasts”: histiocytes capable of fibroblast

differentiation

Kauffman SL, Stout AP. Cancer 1961 14:469-82. Ozzello et al Cancer 1963 16:331-44.

Where did MFH come from?

1972: Kempson and Kyriakos

Kempson RL, Kyriakos M. Cancer 1972 961-76.

MFH Histotype?

Theories

฀ Facultative fibroblasts (facultative histiocytes?) ฀ Mixture of fibroblasts and histiocytes ฀ Stem cell with dual differentiation into fibroblasts and histiocytes

Problems

฀ No histotype supported by ancillary diagnostic and in-vitro methods ฀ Some well-differentiated tumors (liposarcoma, leiomyosarcoma, etc.)

contain areas indistinguishable from pleomorphic, storiform or giant- cell MFH

฀ No unifying genetic changes (usually profound genomic instability)

“Histiocytes”

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Reappraisal of MFH

Fletcher CD. AJSP 1992 16:213-28. Fletcher CD et al J Clin Oncol 2001, 19:3045.

Myxofibrosarcoma Leiomyosarcoma Rhabdomyosarcoma Myogenic sarcoma NOS Pleomorphic liposarcoma WD liposarcoma Osteosarcoma Myofibroblastic sarcoma Fibrosarcomatous DFSP Evans tumor Other Undifferentiated sarcoma

Reappraisal of MFH (2001)

Fletcher CD et al J Clin Oncol 2001, 19:3045.

Undifferentiated sarcoma

Reappraisal of MFH (2001) Reappraisal of MFH (UCSF, 2017)

Dedifferentiated liposarcoma Pleomorphic rhabdomyosarcoma MPNST Adult fibrosarcoma Pleomorphic hyalinizing angiectatic tumor Myxoinflammatory fibroblasic sarcoma Undifferentiated sarcoma

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Reappraisal of MFH

  • Clinically meaningful classification, what is practical?
  • Not sarcoma
  • Melanoma
  • Carcinoma
  • Others: Germ cell, hematopoietic
  • Sarcoma (limited data)
  • Defined histotype
  • Dedifferentiated liposarcoma better than “MFH”
  • Myogenic sarcoma “worse” than non-myogenic
  • Uncertain histotype
  • Myxofibrosarcoma
  • Atypical fibroxanthoma / pleomorphic dermal sarcoma
  • Myxoinflammatory fibroblastic sarcoma
  • Undifferentiated pleomorphic sarcoma (UPS)

Pleomorphic tumors are not always sarcoma

Diagnosis Clin-path clues Immunostains Genetics Sarcomatoid carcinoma Cohesive cells, clinical history, superficial near epithelium Diffuse keratin P63+ INI1 intact Melanoma Nesting, in-situ component, pigment SOX10, S100, HMB45, MelanA BRAF V600E Germ cell tumor Young patient, para-aortic, mediastinum, history SALL4, OCT4, Keratin, CD30 Hematolymphoid In nodal anatomic sites, multifocal, round cells, dyshesive LCA, CD4, MPO, CD30 Variable

Sarcomatoid carcinoma

Sarcomatoid carcinoma

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Sarcomatoid carcinoma

Keratin EMA p63 INI1

Melanoma

T2 F/S T2 F/S Melanoma Melanoma

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Melanoma

S100 SOX10 MelanA

Pleomorphic sarcomas with defined histotype

Diagnosis Clin-path clues Stains Genetics Dedifferentiated liposarcoma Well differentiated component, retroperitoneum, scrotum MDM2, CDK4 Amp(12q13-15) Rhabdomyosarcoma Strap cells Myogenin, MyoD1, desmin Leiomyosarcoma Abundant dense cytoplasm Caldesmon, SMA, desmin (2 of 3) Myofibrosarcoma Loose, fasciitis-like SMA (tram-track) Pleomorphic liposarcoma Pleomorphic lipoblasts Oil red O Extraskeletal

  • steosarcoma

Produces osteoid or bone SATB2 (sensitive, not specific) Malignant peripheral nerve sheath tumor NF1, pre-existing benign nerve sheath tumor SOX10, S100 (sens. ~ 50%) H3K27Me3 loss

Pleomorphic sarcomas with defined histotype

McCormick et al Am J Surg Pathol 1994, 18:1213-23.

Dedifferentiated liposarcoma

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Dedifferentiated liposarcoma

Dedifferentiated Liposarcoma: 12q13-15 amplification

Horvai et al. 2009 Mod Pathol 22(S1): 14A

MDM2, CDK4

Leiomyosarcoma

Rhabdomyosarcoma

Myofibroblastic sarcoma

“Myogenic NOS”

Fletcher CD et al J Clin Oncol 2001, 19:3045.

Pleomorphic sarcomas with defined histotype

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Pleomorphic leiomyosarcoma Pleomorphic leiomyosarcoma

SMA Desmin Caldesmon Caldesmon

Pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma

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Pleomorphic rhabdomyosarcoma (myogenin) Myofibroblastic sarcoma Myofibroblastic sarcoma

Myofibroblastic sarcoma

SMA Desmin Caldesmon Caldesmon

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Pleomorphic sarcomas with defined histotype - clinical

Diagnosis Recurrence Metastasis Mortality Dedifferentiated liposarcoma 51% 15% 26% @ 5 yrs. Myogenic sarcomas ?% 56% 39% @ 20 yrs. Undifferentiated pleomorphic sarcoma 13-42% 31-35% 37% @ 5 yrs.

McCormick et al Am J Surg Pathol 1994, 18:1213-23. Fletcher CD et al J Clin Oncol 2001, 19:3045.

Pleomorphic sarcomas with uncertain histotype

Diagnosis Clin-path clues Stains Genetics Myxofibrosarcoma Superficial, predominantly myxoid, branching vessels Nonspecific, most negative Variable Atypical fibroxanthoma / Pleomorphic dermal sarcoma Dermal, subcutaneous, sun damage Nonspecific: Vimentin, CD10; negative for keratin and melanocytic NOTCH1/2 FAT1 Pleomorphic hyalinizing angiectatic tumor Foot, middle age, damaged vessels, 0-1/10 hpf S100 negative TGFBR3-MGEA5 Myxoinflammatory fibroblastic sarcoma Acral, foot, pseudolipoblasts, inflammation, <1 mf / 50 hpf Nonspecific BRAF (in pure MIFS)

Myxofibrosarcoma (myxoid “MFH”) Myxofibrosarcoma

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Atypical fibroxanthoma, undifferentiated dermal sarcoma Atypical fibroxanthoma, pleomorphic dermal sarcoma

McCalmont TH. J Cutan Pathol 2011; 38:853. McCalmont TH. J Cutan Pathol. 2012 39:8.

Pleomorphic hyalinizing angiectatic tumor (PHAT) Myxoinflammatory fibroblastic sarcoma (MIFS)

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Myxoinflammatory fibroblastic sarcoma (MIFS) Pleomorphic sarcomas with uncertain histotype - clinical

Odei B et al. Am J Clin Oncol 2017 epub. Koch M et al. Anticancer Res 2015 35:5717. Miller K et al. Am J Surg Pathol 2012 36:1317. Folpe AL, Weiss SW. Am J Surg Pathol 2004 11:14-17. Laskin WB et al. Am J Surg Pathol 2014 38:1. Roland CL et al. Ann Surg Oncol 2016 23:2220.

Diagnosis Recurrence Metastasis Mortality Myxofibrosarcoma (grade 1-3) 31% 15% 23% @ 3 yrs. Atypical fibroxanthoma 8% 0-3% 0-2% @ 20 yrs. Pleomorphic dermal sarcoma 28% 5-10% 0-2% @ 2 yrs. Pleomorphic hyalinizing angiectatic tumor 33% 0% 0% @ 4 yrs. Myxoinflammatory fibroblastic sarcoma 51% 2% 0% @ 5 yrs. Undifferentiated pleomorphic sarcoma 13-42% 31-35% 37% @ 5 yrs.

How much further should we subdivide UPS?

Undifferenti- ated sarcoma

Lymphoma: DLBCL, anaplastic

Myeloid sarcoma

Follicular “dendritic cell”

Interdigitating “dendritic cell”

True histiocytic sarcoma

Cannatella J and Horvai A. Manuscript in prep

How much further should we subdivide UPS?

Undifferent iated sarcoma

Lymphoma: DLBCL, anaplastic

Myeloid sarcoma

Follicular “dendritic cell”

Interdigitating “dendritic cell”

True histiocytic sarcoma

Cannatella J and Horvai A. Manuscript in prep

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What do I do?

Biopsy:

฀ Desmin, SOX10, Keratin ฀ History of NF1: S100, H3K27Me3 ฀ Looks myoid: SMA, caldesmon ฀ If retroperitoneal, scrotal or imaging to suggest fat: MDM2, CDK4

Excision:

฀ H&E: lipoblasts, cartilage, bone, benign neurofibroma, mitotic activity ฀ Same stains as above ฀ Make sure mitoses correlate with pleomorphism esp. in feet

Take-home messages

  • 1. Avoid the diagnosis of Malignant Fibrous Histiocytoma

(MFH).

  • 2. Unclassified Pleomorphic Sarcoma (UPS) is a diagnosis of

exclusion.

  • 3. Prior to diagnosing UPS, exclude non-sarcomas, myogenic

sarcoma, dedifferentiated liposarcoma.

  • 4. Consider AFX/PDS based on dermal location