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MAML2

Monday 8 March 2004

Mastermind-like Notch coactivator MAML2

Pathology

- MAML2-MECT1 (MAMl2-CRTC1) gene fusion by t(11;19)(q21;p13) in

- MAML2-WAMTP1 gene fusion

- MAML2-MLL gene fusion in

The MECT1-MAML2 translocation is identified in a large proportion of mucoepidermoid carcinomas (MEC) of the salivary gland and is an emerging favorable prognosticator.

MECT1/MAML2 translocation is highly specific for MEC and imparts a better prognosis. However, it is frequent even within high-grade MEC and can be seen in lethal cases suggesting that translocation status should not supersede conventional parameters.

There are 2 distinct subgroups within high-grade MEC, and the translocation negative tumors may actually be more appropriately categorized as another tumor type (such as adenosquamous carcinoma).

Diagnostic use

- MAML2 Status in Mucoepidermoid Carcinoma Can No Longer Be Considered a Prognostic Marker. (27299797)

MAML2 FISH detection

- Fluorescence in situ hybridization for detection of MAML2 rearrangements in oncocytic mucoepidermoid carcinomas (21777943)

  • 71% of oncocytic mucoepidermoid carcinomas showed a MAML2 rearrangement by fluorescence in situ hybridization.
  • No correlation was seen between rearrangement status and histologic grade, growth pattern, or p63 staining pattern.
  • MAML2 rearrangement can be used as supportive evidence to distinguish oncocytic mucoepidermoid carcinoma from other oncocytic lesions.

See also

- MAMLs (Mastermind-like proteins )

References

- MAML2 Status in Mucoepidermoid Carcinoma Can No Longer Be Considered a Prognostic Marker. Seethala RR, Chiosea SI. Am J Surg Pathol. 2016 Jun 13. PMID: 27299797

- Fluorescence in situ hybridization for detection of MAML2 rearrangements in oncocytic mucoepidermoid carcinomas: utility as a diagnostic test. García JJ, Hunt JL, Weinreb I, McHugh JB, Barnes EL, Cieply K, Dacic S, Seethala RR. Hum Pathol. 2011 Dec;42(12):2001-9. PMID: 21777943

- A Reappraisal of the MECT1/MAML2 Translocation in Salivary Mucoepidermoid Carcinomas. Seethala RR, Dacic S, Cieply K, Kelly LM, Nikiforova MN. Am J Surg Pathol. 2010 Jun 28. PMID: 20588178

- Winnes M, Molne L, Suurkula M, Andren Y, Persson F, Enlund F, Stenman G. Frequent fusion of the CRTC1 and MAML2 genes in clear cell variants of cutaneous hidradenomas. Genes Chromosomes Cancer. 2007 Jun;46(6):559-63. PMID: 17334997

- Tirado Y, Williams MD, Hanna EY, Kaye FJ, Batsakis JG, El-Naggar AK. CRTC1/MAML2 fusion transcript in high grade mucoepidermoid carcinomas of salivary and thyroid glands and Warthin’s tumors: implications for histogenesis and biologic behavior. Genes Chromosomes Cancer. 2007 Jul;46(7):708-15. PMID: 17437281

- Nemoto N, Suzukawa K, Shimizu S, Shinagawa A, Takei N, Taki T, Hayashi Y, Kojima H, Kawakami Y, Nagasawa T. Identification of a novel fusion gene MLL-MAML2 in secondary acute myelogenous leukemia and myelodysplastic syndrome with inv(11)(q21q23). Genes Chromosomes Cancer. 2007 Jun 5; PMID: 17551948

- Winnes M, Molne L, Suurkula M, Andren Y, Persson F, Enlund F, Stenman G. Frequent fusion of the CRTC1 and MAML2 genes in clear cell variants of cutaneous hidradenomas. Genes Chromosomes Cancer. 2007 Jun;46(6):559-63. PMID: 17334997

- Behboudi A, Enlund F, Winnes M, Andren Y, Nordkvist A, Leivo I, Flaberg E, Szekely L, Makitie A, Grenman R, Mark J, Stenman G. Molecular classification of mucoepidermoid carcinomas-prognostic significance of the MECT1-MAML2 fusion oncogene. Genes Chromosomes Cancer. 2006 May;45(5):470-81. PMID: 16444749