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Bone: Vascular Tumors

Written2008-02Sofie LJ Verbeke, Judith VMG Bovée
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Updated2016-11David G.P. van Ijzendoorn and Judith V.M.G. Bovée
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands. J.V.M.G.Bovee@lumc.nl

(Note : for Links provided by Atlas : click)

Abstract

Abstract Review on Vascular tumors of bones, with data on clinics, and the genes involved. Vascular tumors of bone spans a spectrum with on one side the overtly benign lesions consisting of the haemangiomas and on the other side the frankly malignant lesions consisting of the angiosarcomas. In between there are the intermediate locally aggressive epithelioid haemangiomas and the low grade malignant epithelioid hemangioendotheliomas. Recently translocations and specific mutations have been identified to aid the classification of many entities in the spectrum of vascular bone tumors.

Identity

ICD-Topo C400-C403,C408-C414,C418-C419 BONES & JOINTS
ICD-Morpho 9120/0 Haemangioma
ICD-Morpho 9120/3 Hemangiosarcoma
Atlas_Id 5357
Phylum Bones::Vascular tumor
Note In the spectrum of vascular tumors, ranging from benign to frankly malignant, the benign vascular lesions of bone are relatively common and occur most frequently as an asymptomatic incidental finding in the skull or spine. Primary malignant vascular tumors of bone are rare. They represent less than 1% of primary malignant bone tumors reported by the Netherlands Committee on Bone Tumors and 0,5% of those registered at the Mayo Clinic. Clinically they are extremely aggressive and have a very poor prognosis. Survival rates are unknown.

Classification

Note Over the years, the terminology and classification of vascular tumors of bone has been highly controversial and in literature a great variety of names has been proposed. Illustrating this are cases described in literature as haemangioendothelioma of bone, which probably represents epithelioid haemangioma. With the identification of different mutations and translocations, specific to the different vascular tumors, most of the controversy has been resolved.
The large variety of histological features of vascular tumors of bone suggests that it should be regarded as a spectrum with on one side the overtly benign lesions consisting of the haemangiomas and on the other side the frankly malignant lesions consisting of the angiosarcomas. In between there are the intermediate locally aggressive epithelioid haemangiomas and the low grade malignant epithelioid hemangioendotheliomas. Recently translocations and specific mutations have been identified to aid the classification of many entities in the spectrum of vascular bone tumors. For the haemangiomas VEGFR mutations have been identified, and in epithelioid haemangioma fusion genes involving FOS and FOSB with different fusion partners have been identified. For epithelioid haemangioendothelioma WWTR1/CAMTA1-, and in a specific subset YAP/TFE3 fusions are identified and in angiosarcoma PTPRB, PLCG1, CIC, KDR, and FLT4 mutations and MYC amplifications have been found.
Note Schematic representation of histological spectrum of vascular tumors of bone.
    Today, the most accepted classification of vascular tumors of bone is the 2013 WHO classification:
  • Haemangioma and related lesions
  • Epithelioid haemangioma
  • Epithelioid haemangioendothelioma
  • Angiosarcoma
  • Clinics and Pathology

    Disease Haemangioma and related lesions
    Note Multiple lesions are defined as (haem)angiomatosis.
    Phenotype / cell stem origin Endothelial cell
    Epidemiology Haemangiomas are detected relatively common at autopsy with no clinical implications.
    Clinics In general asymptomatic.
    Cytogenetics No cytogenetic investigations reported.
    Prognosis Haemangiomas have a good prognosis and low recurrence rate.
    When primary Angiosarcoma of bone exhibits more than 3 mitosis per 10 HPF with prominent nucleolus and fewer than five eosinophilic granulocytes per 10 HPF they will likely have a worse prognosis.

    Disease Epithelioid haemangioma
    Epidemiology Extremely rare.
    Clinics Pain localized to the involved anatomical site.
    Cytogenetics Fusions involving FOS with different fusion partners have been found (t(1;14)(q22;q24) FOS/LMNA; t(3;14)(q25;q24) FOS/MBNL1; t(10;14)(p13;q24) FOS/VIM). Atypical cases carry ZFP36-FOSB fusions (t(19;19)(q13;q13) ZFP36/FOSB).
    Prognosis Locally aggressive, can be multifocal, and can metastasize in very rare cases.

    Disease Epithelioid haemangioendothelioma
    Epidemiology Extremely rare
    Clinics Pain and swelling but sometimes asymptomatic.
    Cytogenetics WWTR1-CAMTA1 and YAP1-TFE3 fusions (t(1;3)(p36;q25) WWTR1/CAMTA1 and t(X;11)(p11;q22) YAP1/TFE3).
    Prognosis Involvement of two bones is associated with a worse prognosis regardless of the number of organs involved.

    Disease Angiosarcoma
    Epidemiology Extremely rare.
    Clinics In general, presents as a painful mass. Depending on the size and localization of the tumor, neurological deficit or other symptoms can occur.
    Cytogenetics No cytogenetic investigations of angiosarcoma in bone are reported.
    Genes PTPRB, PLCG1, CIC, KDR, and FLT4 mutations and MYC amplifications.

    Bibliography

    Recurrent PTPRB and PLCG1 mutations in angiosarcoma
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    Nat Genet. 2014 Apr;46(4):376-9. doi: 10.1038/ng.2921.
    PMID 24633157
     
    Bone tumors.
    Dorfman HD, Czerniak B
    Mosby,. 1998.
     
    World Health Organization Classification of Tumours of soft tissue and bone: Vascular tumours
    Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F.
    IARCpress Lyon. 2013.
     
    Recurrent CIC Gene Abnormalities in Angiosarcomas: A Molecular Study of 120 Cases With Concurrent Investigation of PLCG1, KDR, MYC, and FLT4 Gene Alterations
    Huang SC, Zhang L, Sung YS, Chen CL, Kao YC, Agaram NP, Singer S, Tap WD, D'Angelo S, Antonescu CR
    Am J Surg Pathol 2016;00:000-000
    PMID 26735859
     
    Bone tumors. Diagnosis, treatment, and prognosis.
    Huvos AG
    W..
     
    Epithelioid and spindle cell haemangioma of bone.
    Maclean FM, Schatz J, McCarthy SW, Scolyer RA, Stalley P, Bonar SF
    Skeletal radiology. 2007 ; 36 Suppl 1 : S50-S57.
    PMID 16688448
     
    Molecular Pathogenesis and Diagnostic, Prognostic and Predictive Molecular Markers in Sarcoma
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    Epithelioid vascular tumors of bone: a review and proposal of a classification scheme.
    O'Connell JX, Nielsen GP, Rosenberg AE
    Advances in anatomic pathology. 2001 ; 8 (2) : 74-82.
    PMID 11236956
     
    Distinct histological features characterize primary angiosarcoma of bone
    Verbeke SL, Bertoni F, Bacchini P, Sciot R, Fletcher CD, Kroon HM, Hogendoorn PC, Bovée JV
    (2011) Histopathology 58, 254-264
    PMID 21323951
     
    Malignant vascular lesions of bone: radiologic and pathologic features.
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    PMID 11201031
     

    Citation

    This paper should be referenced as such :
    van Ijzendoorn DGP, Bovée JVMG
    Bone: Vascular Tumor
    Atlas Genet Cytogenet Oncol Haematol. in press
    On line version : http://AtlasGeneticsOncology.org/Tumors/VascularBoneID5357.html
    History of this paper:
    Verbeke, SLJ ; Bove, JVMG. Bone: Vascular Tumours. Atlas Genet Cytogenet Oncol Haematol. 2009;13(2):151-152.
    http://documents.irevues.inist.fr/bitstream/handle/2042/44417/02-2008-VascularBoneID5357.pdf


    Translocations implicated (Data extracted from papers in the Atlas)

     t(1;14)(q22;q24) FOS/LMNA
     t(3;14)(q25;q24) FOS/MBNL1
     t(10;14)(p13;q24) FOS/VIM
     t(3;19)(q25;q13) WWTR1/FOSB
     t(19;19)(q13;q13) ZFP36/FOSB
     t(1;3)(p36;q25) WWTR1/CAMTA1
     t(X;11)(p11;q22) YAP1/TFE3

    External links

    Mitelman database t(1;14)(q22;q24) FOS/LMNA [Case List]    t(1;14)(q22;q24) FOS/LMNA [Association List] Mitelman database (CGAP - NCBI)
    Mitelman database t(3;14)(q25;q24) FOS/MBNL1 [Case List]    t(3;14)(q25;q24) FOS/MBNL1 [Association List] Mitelman database (CGAP - NCBI)
    Mitelman database t(10;14)(p13;q24) FOS/VIM [Case List]    t(10;14)(p13;q24) FOS/VIM [Association List] Mitelman database (CGAP - NCBI)
    Mitelman database t(3;19)(q25;q13) WWTR1/FOSB [Case List]    t(3;19)(q25;q13) WWTR1/FOSB [Association List] Mitelman database (CGAP - NCBI)
    Mitelman database t(19;19)(q13;q13) ZFP36/FOSB [Case List]    t(19;19)(q13;q13) ZFP36/FOSB [Association List] Mitelman database (CGAP - NCBI)
    Mitelman database t(1;3)(p36;q25) WWTR1/CAMTA1 [Case List]    t(1;3)(p36;q25) WWTR1/CAMTA1 [Association List] Mitelman database (CGAP - NCBI)
    Mitelman database t(X;11)(p11;q22) YAP1/TFE3 [Case List]    t(X;11)(p11;q22) YAP1/TFE3 [Association List] Mitelman database (CGAP - NCBI)
    arrayMap Topo ( C40,C41) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
     
     
    Disease databaseBone: Vascular Tumors
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed


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