Vascular tumors of the bone

2022-03-02   Paola Dal Cin , Judith VMG Bovée 

1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
2.Leiden University Medical Center, Leiden, The Netherlands

Classification

Definition

Vascular tumors of the bone are rare, display highly overlapping morphology, and, therefore, are considered difficult to distinguish based on morphology alone. Compared with their soft tissue counterpart, they are  more often multifocal, affecting multiple bones with more aggressive behavior. 1-4

Vascular tumors of the boneGenetic marker(s)
Hemangioma of the bonet(18;22)(q23;q12) associated with EWSR1::NFATC1 fusion has been reported in single case.5 A few vascular malformations /hemangiomas with EWSR1::NFATC2. 6 A unique epithelioid vascular neoplasm of bone characterized byEWSR1/FUS:: FUS NFATC1/2 fusions 3
Epitheliod hemangioma of the boneGene rearrangements in FOS and, less commonly, FOSB are present in a subset of epithelioid hemangiomas, including bone primary lesions. 7
Epitheliod hemangioendothelioma of the boneRecurent WWTR1::CAMTA1 fusion , YAP1::TFE3 fusion in a small subset , and variant WWTR1 gene fusions. 8
Angiosarcoma of the boneLimited genetic informations with both simple and complex rearrangements by array CGH, and MYC amplification by FISH analysis. 9 Rare KDR mutations and no CIC abnormalities. 10
Pseudomyogenic hemangioendothelioma of the bone (emerging) t(7;19)(q22;q13) associated with SERPINE1::FOSB. 11 So far, rarely involvement of WWTR1 12 or CLTC 13

Bibliography

Reference NumberPubmed IDLast YearTitleAuthors
1287975052017Vascular Tumors of Bone: The Evolvement of a Classification Based on Molecular Developments.van IJzendoorn DGP et al
2322711902020Primary Vascular Tumors of Bone: A Monoinstitutional Morphologic and Molecular Analysis of 427 Cases With Emphasis on Epithelioid Variants.Righi A et al
3343107852021A unique epithelioid vascular neoplasm of bone characterized by EWSR1/FUS-NFATC1/2 fusions.Dashti NK et al
4347424852021Vascular Tumors of Bone: Updates and Diagnostic Pitfall.Hung YP et al
5234808952013A benign vascular tumor with a new fusion gene: EWSR1-NFATC1 in hemangioma of the bone.Arbajian E et al
6340810362021Expanding the Spectrum of EWSR1-NFATC2-rearranged Benign Tumors: A Common Genomic Abnormality in Vascular Malformation/Hemangioma and Simple Bone Cyst.Ong SLM et al
7330349322021Epithelioid hemangioma of bone harboring FOS and FOSB gene rearrangements: A clinicopathologic and molecular study.Tsuda Y et al
8321707682020Variant WWTR1 gene fusions in epithelioid hemangioendothelioma-A genetic subset associated with cardiac involvement.Suurmeijer AJH et al
9252314392015Array CGH analysis identifies two distinct subgroups of primary angiosarcoma of bone.Verbeke SL et al
10267358592016Recurrent CIC Gene Abnormalities in Angiosarcomas: A Molecular Study of 120 Cases With Concurrent Investigation of PLCG1, KDR, MYC, and FLT4 Gene Alterations.Huang SC et al
11268720122016Primary Pseudomyogenic Hemangioendothelioma of Bone.Inyang A et al
12337688752021Pseudomyogenic hemangioendothelioma of bone with rare WWTR1-FOSB fusion gene: Case report and literature review.Murshed KA et al
13327490392021A novel CLTC-FOSB gene fusion in pseudomyogenic hemangioendothelioma of bone.Bridge JA et al

External Links

Citation

Paola Dal Cin ; Judith VMG Bovée

Vascular tumors of the bone

Atlas Genet Cytogenet Oncol Haematol. 2022-03-02

Online version: http://atlasgeneticsoncology.org/solid-tumor/208940/vascular-tumors-of-the-bone