t(11;11)(q21;q22) YAP1::MAML2

Genes involved

YAP1 (11q22.1)

MAML2 (11q21)

Tumor type

nasopharyngeal carcinoma

Poroma/porocarcinoma

Skin Cutaneous Melanoma

pleomorphic xanthoastrocytoma/ pediatric high grade glioma

Retiform and composite hemangioendotheliomas

Highly cited references

Pubmed IDYearTitleCitations
351587432022Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors.171
304858242018Integrated Genomic, Epigenomic, and Expression Analyses of Ovarian Cancer Cell Lines.105
336749102021Molecular pathology of thymomas: implications for diagnosis and therapy.72
380673002023The Role of Gene Fusions in Thymic Epithelial Tumors.67
310976962019Functional linkage of gene fusions to cancer cell fitness assessed by pharmacological and CRISPR-Cas9 screening.59
376586962024Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions.49
242143942014Discovery of recurrent structural variants in nasopharyngeal carcinoma.44
363442582023Malignant undifferentiated epithelioid neoplasms with MAML2 rearrangements: A clinicopathologic study of seven cases demonstrating a heterogenous entity.39
347916012022Whole Exome Sequencing Identifies Somatic Variants in an Oral Composite Hemangioendothelioma Characterized by YAP1-MAML2 Fusion.38
319060592019Molecular Profiling of Atypical Tenosynovial Giant Cell Tumors Reveals Novel Non-CSF1 Fusions.38
360081392022Both YAP1-MAML2 and constitutively active YAP1 drive the formation of tumors that resemble NF2 mutant meningiomas in mice.35
396240572024The YAP1-MAML2 fusion drives tumorigenesis and sustains tumor growth.34
311457012019Recurrent YAP1-MAML2 and YAP1-NUTM1 fusions in poroma and porocarcinoma.33
394179272024Comprehensive Next Generation Sequencing Reveals that Purported Primary Squamous Cell Carcinomas of the Parotid Gland are Genetically Heterogeneous.28
343549472021YAP1-MAML2 Fusion as a Diagnostic Biomarker for Metaplastic Thymoma.27
325042882021YAP1-MAML2-Rearranged Poroid Squamous Cell Carcinoma (Squamoid Porocarcinoma) Presenting as a Primary Parotid Gland Tumor.23
329913412020Recurrent YAP1 and MAML2 Gene Rearrangements in Retiform and Composite Hemangioendothelioma.22
376289962023Atypical Intraparenchymal Meningioma with YAP1-MAML2 Fusion in a Young Adult Male: A Case Report and Mini Literature Review.21
374895942023Significance of YAP1-MAML2 rearrangement and GTF2I mutation in the diagnosis and differential diagnosis of metaplastic thymoma.15
359864302022YAP1-MAML2 fusion in a pediatric NF2-wildtype intraparenchymal brainstem schwannoma.13
388640462024Hide-and-Seek With Spindle-Cell-Component-Poor Metaplastic Thymoma.12
357345112022Poromas with YAP1-MAML2 fusions in a poromatosis case.11
390915542024Metaplastic thymoma in the middle mediastinum: a rare case report and surgical treatment analysis of a 32-year-old female patient.11
362071392022Modeling YAP fusions: a paradigm for investigating rare cancers?9
372295162023Giant Multilocular-Cystic Metaplastic Thymoma: A Case Report.9
394509362025A woman with mycosis fungoides, vitiligo, and a new hand nodule.6
355982012022A novel YAP1-MAML2 fusion in an adult supra-tentorial ependymoma, YAP1-fused.0
375653032023Loss of YAP1 C-terminus expression as an ancillary marker for metaplastic thymoma: a potential pitfall in detecting YAP1::MAML2 gene rearrangement.0
368537922023Expanding the Clinicopathologic Spectrum of YAP1::MAML2-Rearranged Thymic Neoplasm.0
367238032023YAP1::MAML2 fusions in poromatosis: A report of two patients.0
355466362022Recurrent YAP1::MAML2 fusions in "nodular necrotizing" variants of myxoinflammatory fibroblastic sarcoma: a comprehensive study of 7 cases.0
371996822023Recurrent PAK2 rearrangements in poroma with folliculo-sebaceous differentiation.0
316412312020Metaplastic thymoma: a distinctive thymic neoplasm characterized by YAP1-MAML2 gene fusions.0
367207912023Distinct regulations driving YAP1 expression loss in poroma, porocarcinoma and RB1-deficient skin carcinoma.0
367880972023Response to "Expanding the Clinicopathologic Spectrum of YAP1-MAML2-Rearranged Thymic Neoplasm".0
375058082023Sweat Gland Tumors Arising on Acral Sites: A Molecular Survey.0
380580402023[Clinicopathological and molecular features of metaplastic thymoma].0
387850432024Porocarcinomas with PAK1/2/3 fusions: a series of 12 cases.0
390344122024Squamous Cell Carcinoma Arising in YAP1::MAML2 Fusion-Associated Metaplastic Thymoma: A Case Report.0
332222862021Utility of YAP1 and NUT immunohistochemistry in the diagnosis of porocarcinoma.0
390964162024Immunohistochemistry for YAP1 N-terminus and C-terminus highlights metaplastic thymoma and high-grade thymic epithelial tumors by different staining patterns.0
337048002021Poroid adnexal skin tumors with YAP1 fusions exhibit similar histopathologic features: A series of six YAP1-rearranged adnexal skin tumors.0
380884542024Spindle cell porocarcinoma with a novel YAP1::MAML3 fusion.0
339941712021Spindle cell/sclerosing rhabdomyosarcoma with a novel YAP1-MAML2 fusion in a 1-year-old: not all strongly TRK-expressing spindle cell sarcomas in infants are infantile fibrosarcomas!0
356659512022Molecular analysis of NUT-positive poromas and porocarcinomas identifies novel break points of YAP1::NUTM1 fusions.0
392424402024Malignant meningioma of the falx cerebri in a child: case report and literature review.0
399859242025Anaplastic meningioma in a 6-year-old with somatic YAP1::MAML2 fusion and multiple endocrine neoplasia type 4 (MEN4) syndrome.0
390235572024Conundrum of 3N: nasopharyngeal nonkeratinizing non-viral carcinoma-reappraisal of fusions and report of two consecutive cases with unusual molecular findings.0
367949762023Porocarcinoma with YAP1-NUTM1 fusion presenting as a NUT immunohistochemistry-positive lymph node metastasis.0
370937562024A Rare Case of Metaplastic Thymoma Presenting With Myasthenia Gravis.0
398220172025A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma-A Controversial and Pathologically Challenging Low-Grade Sarcoma.0

Bibliography

Pubmed IDPublication YearTitleAuthors
242143942014Discovery of recurrent structural variants in nasopharyngeal carcinoma.Valouev A, et al
311457012019Recurrent YAP1-MAML2 and YAP1-NUTM1 fusions in poroma and porocarcinoma.Sekine S, et al
296176622018Driver Fusions and Their Implications in the Development and Treatment of Human Cancers.Gao Q, et al
317347282020YAP1-fusions in pediatric NF2-wildtype meningioma.Sievers P, et al
329913412020Recurrent YAP1 and MAML2 Gene Rearrangements in Retiform and Composite Hemangioendothelioma.Antonescu CR, et al