Ask about this productRelated genes to: MITF antibody
- Gene:
- MITF NIH gene
- Name:
- melanocyte inducing transcription factor
- Previous symbol:
- WS2A, WS2
- Synonyms:
- MI, bHLHe32
- Chromosome:
- 3p13
- Locus Type:
- gene with protein product
- Date approved:
- 1993-10-27
- Date modifiied:
- 2019-04-23
Related products to: MITF antibody
Related articles to: MITF antibody
- Mucosal melanoma (MM) is a rare and aggressive melanoma subtype with poor outcomes and poorly understood risk factors, including the contribution of germline pathogenic variants (PVs). In this study, 346 MM patients treated at MD Anderson Cancer Center underwent germline sequencing of 322 known cancer susceptibility genes, with PV frequencies compared to population controls (gnomAD and TOPMed) using Fisher's exact test. The cohort had a median age at diagnosis of 64 years and was predominantly female (62%) and White (84.0%). Anatomical subtypes of MM included gastrointestinal (36%), head and neck (33%), and genitourinary (31%). Among patients with somatic testing results (n = 303), KIT mutations (26%) were most common, followed by NRAS (17%), BRAF (6.6%), and BRAF (2.6%). Germline PVs were identified in 37 patients (10.7%), most frequently in CHEK2 (n = 9, 23.0%), ATM (n = 8, 20.5%), and MITF (n = 6, 15.4%). MITF p.E318K (OR 6.0; 95% CI 2.2-13.2) and CHEK2 c.1100delC (OR 6.7; 95% CI 1.8-17.5) were significantly enriched compared to population control rates. Patients with germline PVs were more likely to have two or more affected first-degree relatives (49.0% vs. 29.1%, p = 0.019). These findings highlight a meaningful germline contribution to MM risk and support the incorporation of genetic testing in this population. - Source: PubMed
Publication date: 2026/05/23
Amouzegar AfsanehWu XiaogangLong James PChen Gabriela WWong Justin WPrabhakaran SabithaLittle LatashaGumbs CurtisBota NeusMalke JaredSimon JulieZhang JianhuaNagarajan PriyadharsiniDavies Michael ATawbi HusseinAmaria Rodabe NOliva Isabella C GlitzaIkeguchi Alexandra PSu ShirleyHanna Ehab YWeiser RoiBednarski BrianSims Travis TMitra DevaratiWargo JenniferGershenwald Jeffrey EScheet PaulYu YaoHuff ChadNelson Kelly CMcQuade Jennifer LFutreal P Andrew - MITF-rearranged tumors represent a poorly defined subset within the expanding spectrum of MITF pathway-activated cutaneous mesenchymal neoplasms. These tumors are of uncertain lineage, with ongoing debate as to whether they are of melanocytic or, more likely, non-melanocytic origin. They are characterized by recurrent genomic rearrangements that activate the MITF signaling axis and result in MITF overexpression. To date, only ten cases have been reported, and their nosologic classification-as well as their relationship to other entities, particularly primary cutaneous perivascular epithelioid cell tumors (pcPEComas)-remains uncertain. To further characterize this entity, we identified five additional cases (3 females, 2 males; mean age 55.8 years, median 61, range 22-81), all arising on the lower extremities and measuring 0.8-3 cm. Follow-up (n = 2) revealed one local recurrence with survival at 122 months (disease status unknown) and one patient alive at 14 months with indeterminate but likely benign pulmonary nodules. Histologically, tumors were non-circumscribed dermal nodules extending to the dermoepidermal junction without epidermal involvement and displaying infiltrative and/or expansile borders. They consisted predominantly of solid sheets of epithelioid cells with focal spindle areas dissecting collagen in a characteristic "checkerboard-like" pattern. Paraganglioma-like and perivascular architectures were observed. Cytologic atypia was mild; a single mitotic figure was identified in one case; necrosis, lymphovascular, and perineural invasion were absent. All tumors showed diffuse MITF and multifocal HMB-45 expression. GPNMB and PRAME were positive in both tested cases. RNA-based sequencing demonstrated in-frame ACTG1::MITF fusions in four tumors and an ACTB::MITF fusion in one; MITF rearrangement was confirmed by break-apart FISH in two. We additionally reviewed the literature on primary cutaneous PEComas and compared their clinicopathologic features with those of ACTIN::MITF-rearranged tumors. This study expands the clinicopathologic and molecular spectrum of ACTIN::MITF-rearranged tumors and further explores their relationship to cutaneous PEComas. - Source: PubMed
Publication date: 2026/05/22
Mansour BoulosBaranovska-Andrigo ViraMichal MichalAlomari Ahmed KTorres-Mora JorgeDehner Carina AMichal Michael - Phenotype switching, a key driver of melanoma progression and therapy resistance, is governed by the lineage transcription factor MITF. Here, we identify the small MAF family transcription factor MAFG as a critical regulator of MITF activity and melanoma cell state plasticity. MAFG expression is frequently elevated in melanoma and correlates with poor patient survival. Mechanistically, MAFG binds MITF and redirects its genomic occupancy, thereby modulating transcriptional programs governed by MITF. Genetic perturbation studies in vitro and in vivo show that MAFG promotes a dedifferentiated cell state and accelerates melanoma progression through its direct interaction with MITF. Moreover, MAFG is required for melanoma cell proliferation and for the transition from nevi to melanoma in genetic mouse models. Together, these findings demonstrate that the MAFG~MITF complex orchestrates phenotype switching and tumor progression, uncovering an unrecognized mechanism of MITF regulation in melanoma. - Source: PubMed
Publication date: 2026/05/21
Vera OlgaMartinez MichaelSoto-Vargas ZulaidaWang KaizhenXu XiaonanMecozzi NicolMurikipudi HariniRuiz-Buceta SaraChadourne ManonPosorske BenjaminAngarita ArianaBok IlahUlloa Arrieta Juan DLiu QianKim YumiMessina Jane LTsai Kenneth YMajor Michael BLau Eric KYu XiaoqingIbanez de Caceres InmaculadaKarreth Florian A - The 9 Birt-Hogg-Dubé (BHD) International Symposium convened virtually in March 2026. The meeting attracted more than 100 participants internationally and highlighted recent findings in a variety of areas, including genetic insight and molecular understanding of BHD syndrome, also known as the Hornstein-Knickenberg syndrome, structure and function of the tumor suppressor Folliculin (FLCN), therapeutic and clinical advances, as well as patient experiences living with this disease. - Source: PubMed
Publication date: 2026/05/18
Rajan NeilBaba MasayaBallabio AndreaHenske Elizabeth PJacques KatherineMarciniak Stefan JPause ArnimShi WeiSoleimani ManoocherTee Andrew RZoncu RobertoMollapour MehdiLinehan W Marston - Though major advancements have been made within the realm of targeted and immune-based therapies, metastatic melanoma still remains one of the most notoriously incurable malignancies due to early drug tolerance and eventual resistance. Increasing evidence has started to show drug-tolerant persister cells as a critical nongenetic mechanism that allows survival under MAPK pathway inhibition. While genetically resistant clones support stable mutations, persister cells enter reversible, slow-cycling states which are triggered by stressful conditions. This review synthesizes current research on the various molecular and cellular mechanisms which support melanoma persister cell formation, focusing specifically on phenotype plasticity, selective translational control, metabolic rewiring, redox buffering, and compensatory signaling pathways. We highlight how dynamic transitions among MITF-low, SOX10-low, and KDM5B-high states enable persistence under therapeutic pressure, and how epitranscriptomic regulation and metabolic shifts toward oxidative/lipid-dependent processes help decouple and focus on survival rather than proliferation. Furthermore, we examine microenvironment-driven activation of RhoA-FAK-AKT signaling and redox-adaptive sulfur metabolism as unique adaptive resistance mechanisms. Finally, our paper emphasizes persister states serving as evolutionary intermediates from which stable resistance can eventually emerge, and outline therapeutic strategies which exploit the transient persister vulnerability and help prevent melanoma drug-resistance. - Source: PubMed
Publication date: 2026/05/19
Shah BhoomiMayhew Mackenzie MSellers JacobWitt Russell G