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

Vascualr tumors; FOS gene, FOSB gene; EWSR1:: NFATC2;WWTR1::CAMTA1;WWTR1::CAMTA1;SERPINE1::FOSB



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


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Paola Dal Cin ; Judith VMG Bovée

Vascular tumors of the bone

Atlas Genet Cytogenet Oncol Haematol. 2022-03-02

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