Bone and soft tissue tumors: clinicoradiologic-pathologic molecular-genetic correlation of novel fusion spindled, targetable-ovoid, giant-cell-rich, and round cell sarcomas.
Skeletal Radiol
; 52(3): 517-540, 2023 Mar.
Article
en En
| MEDLINE
| ID: mdl-36542130
ABSTRACT
BACKGROUND:
New entities in the classification of bone and soft tissue tumors have been identified by use of advanced molecular-genetic techniques, including next-generation sequencing. Clinicoradiologic and pathologic correlation supports diagnostic classification.METHODS:
Tumors from four morphologically grouped areas are selected to enhance diagnosis and awareness among the multidisciplinary team. These include select round cell tumors, spindle cell tumors, targetable tyrosine kinase/RASMAPK pathway-ovoid (epithelioid to spindled) tumors, and giant-cell-rich tumors of bone and soft tissue.RESULTS:
Round cell tumors of bone and soft tissue include prototypical Ewing sarcoma, newer sarcomas with BCOR genetic alteration and CIC-rearranged, as well as updates on FUS/EWSR1NFATc2, an EWSR1 non-ETS tumor that is solid with additional amplified hybridization signal pattern of EWSR1. This FUS/EWSR1NFATc2 fusion has now been observed in seemingly benign to low-grade intraosseous vascular-rich and simple (unicameral) bone cyst tumors. Select spindle cell tumors of bone and soft tissue include rhabdomyosarcoma with FUS/EWSR1TFCP2, an intraosseous high-grade spindle cell tumor without matrix. Targetable tyrosine-kinase or RASMAPK pathway-tumors of bone and soft tissue include NTRK, ALK, BRAF, RAF1, RET, FGFR1, ABL1, EGFR, PDGFB, and MET with variable ovoid myopericytic to spindled pleomorphic features and reproducible clinicopathologic and radiologic clues to their diagnosis. Giant-cell-rich tumors of bone, joint, and soft tissue are now respectively characterized by H3F3A mutation, CSF1 rearrangement (targetable), and HMGA2NCOR2 fusion.CONCLUSION:
This article is an update for radiologists, oncologists, surgeons, and pathologists to recognize these novel ovoid, spindled, giant-cell-rich, and round cell tumors, for optimal diagnostic classification and multidisciplinary team patient care.Palabras clave
ALK, NTRK, BRAF, RAF1, RET, FGFR1, ABL1, EGFR, MET, PDGFB fusions, tyrosine-kinase inhibitor; Bone, joint, soft tissue giant cell tumors with H3F3A-mutation, CSF1-rearrangement, HMGA2::NCOR2 fusion; Clinical, pathology, radiology; EWSR1, CIC, BCOR, FUS/EWSR1::NFATc2, bone cyst, vascular; Intraosseous rhabdomyosarcoma EWSR1/FUS::TFCP2; Novel fusion sarcoma
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Rabdomiosarcoma
/
Sarcoma
/
Sarcoma de Ewing
/
Neoplasias de los Tejidos Blandos
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Skeletal Radiol
Año:
2023
Tipo del documento:
Article
País de afiliación:
Estados Unidos