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Virchows Arch. 2019 Nov 6. doi: 10.1007/s00428-019-02676-9. [Epub ahead of print]

The current landscape of rhabdomyosarcomas: an update.

Author information

1
Université de Bordeaux, Talence, France.
2
Département de Biopathologie, Institut Bergonié, 276 cours de l'Argonne, 33000, Bordeaux, France.
3
Université de Bordeaux, Talence, France. f.le-loarer@bordeaux.unicancer.fr.
4
Département de Biopathologie, Institut Bergonié, 276 cours de l'Argonne, 33000, Bordeaux, France. f.le-loarer@bordeaux.unicancer.fr.
5
INSERM U1218, ACTION, Institut Bergonié, Bordeaux, France. f.le-loarer@bordeaux.unicancer.fr.

Abstract

Rhabdomyosarcomas are malignancies associated with a rhabdomyoblastic phenotype which can be demonstrated morphologically or by immunohistochemistry for MYOD1 and myogenin. Rhabdomyosarcomas are currently subdivided into 4 types in the 2013 WHO classification of tumors of soft tissue and bone, including embryonal rhabdomyosarcoma, alveolar rhabdomyosarcoma, spindle cell/sclerosing rhabdomyosarcoma, and pleomorphic rhabdomyosarcoma. Recent studies have significantly impacted this classification with the emergence of three distinct new subtypes of rhabdomyosarcomas, namely rhabdomyosarcoma with MYOD1 mutations, rhabdomyosarcoma with TFCP2 fusions, and rhabdomyosarcoma with VGLL2/NCOA2 fusions. Although all these tumors share the terminology "rhabdomyosarcoma," their morphology, clinical behavior, and underlying molecular alterations are dramatically different. Finally, the presence of a rhabdomyoblastic phenotype within a tumor is by no means a diagnostic of a rhabdomyosarcoma, as this may be seen in many other mesenchymal malignancies, such as mesenchymal chondrosarcomas, malignant peripheral nerve sheaths tumors, and biphenotypic sinonasal sarcomas. In this review, we present the main clinical, morphological, and molecular features of these tumors and discuss the evolution of the current classification.

KEYWORDS:

DICER1; FOXO1; MYOD1; NCOA2; Rhabdomyosarcoma; TFCP2; VGLL2

PMID:
31696361
DOI:
10.1007/s00428-019-02676-9

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