A novel YAP1-MAML2 fusion in an adult supra-tentorial ependymoma, YAP1-fused

Tauziède‐Espariat, Arnault; Siegfried, Aurore; Nicaise, Yvan; Figarella‐Branger, Dominique; Appay, Romain; Senova, Suhan; Bochaton, Dorian; Hasty, Lauren; Martin, A.; Chrétien, Fabrice; Métais, Alice; Varlet, Pascale; Uro‐Coste, Emmanuelle

doi:10.1007/s10014-022-00439-0

Cited by 9 publications

(2 citation statements)

References 8 publications

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“…66 In cutaneous tumours, fusion of MAML2 with either CRTC1/3 or YAP1 has been observed in other sweat gland tumours; namely, hidradenoma and hidradenocarcinoma with CRTC1/3::MAML2 fusion, 63,64 but also in mesenchymal tumours such as composite and retiform haemangioendothelioma with YAP1::MAML2 fusion 58,67 and in a subset of myxoinflammatory fibroblastic sarcoma. 68 In other organs, CRTC1/3:: MAML2 have been reported primarily in mucoepidermoid carcinoma, 69 which is thought to be the extracutaneous molecular analogue of hidradenoma/ hidradenocarcinoma, while YAP1::MAML2 or KMT 2A::MAML2 fusions were also in thymoma, 70 central nervous system tumours 71 and haematological malignancies. 72 Notably, in mucoepidermoid carcinoma with CRTC1::MAML2 fusion, the oncogenic properties of the fusion protein were associated with alterations in two pathways in which the fusion partners are involved, as both constitutive activation of CREB 73 and disruption of the Notch pathways 74 were observed.…”

Section: Fusions Of Yap1 Are Frequent In Poroma and Porocarcinomamentioning

confidence: 99%

Gene fusions in poroma, porocarcinoma and related adnexal skin tumours: An update

Kervarrec,

Pissaloux,

Tirode

et al. 2023

Histopathology

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Poroma is a benign sweat gland tumour showing morphological features recapitulating the superficial portion of the eccrine sweat coil. A subset of poromas may transform into porocarcinoma, its malignant counterpart. Poroma and porocarcinoma are characterised by recurrent gene fusions involving YAP1, a transcriptional co‐activator, which is controlled by the Hippo signalling pathway. The fusion genes frequently involve MAML2 and NUTM1, which are also rearranged in other cutaneous and extracutaneous neoplasms. We aimed to review the clinical, morphological and molecular features of this category of adnexal neoplasms with a special focus upon emerging differential diagnoses, and discuss how their systematic molecular characterisation may contribute to a standardisation of diagnosis, more accurate classification and, ultimately, refinement of their prognosis and therapeutic modalities.

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Section: Fusions Of Yap1 Are Frequent In Poroma and Porocarcinomamentioning

confidence: 99%

Gene fusions in poroma, porocarcinoma and related adnexal skin tumours: An update

Kervarrec,

Pissaloux,

Tirode

et al. 2023

Histopathology

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“…MAML2 fusions have also been detected in a wide spectrum of neoplasms, including myxoinflammatory fibroblastic sarcoma variants, 18 spindle/sclerosing rhabdomyosarcoma, 19 a rare subset of malignant undifferentiated epithelioid neoplasms, 20 poroma and porocarcinoma, 21,22 metaplastic thymoma, 23 sporadic pediatric meningioma, 24 intracranial schwannoma, 25 and ependymoma. 26 Other tumors with YAP1-related fusions include a subset of MUC4-negative sclerosing epithelioid fibrosarcoma, 27,28 clear cell stromal tumor of the lung, 29 deep (aggressive) angiomyxoma, 30 whereas other tumors with MAML2 fusions include clear cell hidradenoma/hidradenocarcinoma, 31 mucoepidermoid carcinoma, 32 and various hematologic malignancies including acute myeloid leukemia, myelodysplastic syndrome, T-cell acute lymphoblastic leukemia, and B-cell acute lymphoblastic leukemia. 33 ARID1B (AT rich interactive domain 1B) gene encodes for a component of the SWI/SNF chromatin remodeling complex, that facilitates transcriptional activation and repression through ATPase-dependent nucleosome remodeling.…”

Section: Targeted Rna Sequencing (Msk-fusion and Trusight Rna Fusion ...mentioning

confidence: 99%

Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions

Linos,

Dermawan,

Pulitzer

et al. 2023

Genes Chromosomes & Cancer

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Composite hemangioendothelioma is a rare, locally aggressive, and rarely metastasizing vascular neoplasm which affects both children and adults. Recently, a number of gene fusions including YAP1::MAML2, PTBP1::MAML2, and EPC1::PHC2 have been detected in a small subset of cases with or without neuroendocrine expression. Herein, we present four additional cases with novel in‐frame fusions. The cohort comprises two females and two males with a wide age range at diagnosis (24–80 years). Two tumors were deep involving the right brachial plexus and mediastinum, while the remaining were superficial (right plantar foot and abdominal wall). The size ranged from 1.5 to 4.8 cm in greatest dimension. Morphologically, all tumors had an admixture of at least two architectural patterns including retiform hemangioendothelioma, hemangioma, epithelioid hemangioendothelioma, or angiosarcoma. The tumors were positive for endothelial markers CD31 (3/3), ERG (4/4), and D2‐40 (1/4, focal), while SMA was expressed in 2/3 highlighting the surrounding pericytes. Synaptophysin showed immunoreactivity in 2/3 cases. One patient had a local recurrence after 40 months, while two patients had no evidence of disease 4 months post‐resection. Targeted RNA sequencing detected novel in‐frame fusions in each of the cases: HSPG2::FGFR1, YAP1::FOXR1, ACTB::MAML2, and ARID1B::MAML2. The two cases with neuroendocrine expression occurred as superficial lesions and harbored YAP1::FOXR1 and ARID1B::MAML2 fusions. Our study expands on the molecular spectrum of this enigmatic tumor, further enhancing our current understanding of the disease.

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Ependymal Tumors

Lacruz

2023

Central Nervous System Tumors

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A novel YAP1-MAML2 fusion in an adult supra-tentorial ependymoma, YAP1-fused

Cited by 9 publications

References 8 publications

Gene fusions in poroma, porocarcinoma and related adnexal skin tumours: An update

Gene fusions in poroma, porocarcinoma and related adnexal skin tumours: An update

Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions

Ependymal Tumors

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