Ask about this productRelated genes to: MAP2K2 antibody
- Gene:
- MAP2K2 NIH gene
- Name:
- mitogen-activated protein kinase kinase 2
- Previous symbol:
- PRKMK2
- Synonyms:
- MEK2
- Chromosome:
- 19p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1993-11-05
- Date modifiied:
- 2019-04-23
Related products to: MAP2K2 antibody
Related articles to: MAP2K2 antibody
- Melanoma is an aggressive malignancy with a high propensity for metastasis, and approximately 3% of cases present as melanoma of unknown primary (MUP), posing diagnostic and management challenges. We report a 63-year-old man who presented with painful, rapidly enlarging axillary and cervical lymphadenopathy without an identifiable cutaneous lesion. Fine-needle aspiration (FNA) of an axillary lymph node revealed a hypercellular specimen composed of highly pleomorphic malignant cells with prominent nucleoli and abundant cytoplasm. Immunocytochemistry demonstrated diffuse nuclear SOX10 expression and focal Melan-A positivity, with negative pancytokeratin staining, supporting a diagnosis of melanoma. Subsequent excisional biopsy confirmed metastatic melanoma with concordant SOX10 and S100 immunoreactivity. Comprehensive genomic profiling detected genomic alterations, including BRAF (K601E), MAP2K2 (E207K), TP53 (W146*) and a TERT promoter -146C>T mutation, along with CDKN2A/B loss and MYC amplification; no KIT or NRAS mutations were detected. Tumour mutational burden (TMB) was 18 mutations/Mb, and the tumour was microsatellite stable. This case highlights the clinical utility of a cytology-first diagnostic workflow for MUP, in which FNA combined with a targeted immunohistochemical panel enables rapid lineage confirmation and facilitates timely surgical excision and molecular testing. Integration of cytologic diagnosis with genomic analysis provides a practical, real-world approach to precision oncology in complex metastatic presentations of melanoma. - Source: PubMed
Publication date: 2026/04/27
Yu HongAbdelhammed MokhtarCao XuRamani Nisha S - Stem cell-derived insulin-producing cells (Ins-PCs) hold great promise for diabetes treatment. Placenta-derived multipotent stem cells (PMSCs) are considered an ideal source of Ins-PC generation due to their immunomodulatory and differentiation properties. However, the cellular and molecular pathways underlying PMSC differentiation to Ins-PCs have not been fully elucidated. In this study, PMSCs were isolated from human placenta and successfully differentiated into Ins-PCs using miRNA-181a mimics. Differentiated Ins-PCs produced a significant amount of insulin and upregulation of C-peptide, insulin, and MAFA expression, compared to undifferentiated control PMSCs. RNA sequencing and LC-MS/MS were performed to uncover the pathways involved in the Ins-PC differentiation process. RNA sequencing revealed the transcriptional landscape of PMSC-derived Ins-PC differentiation. Pathway analysis identified important pathways involved in the differentiation process, including Notch and Wnt/ß-catenin, and so forth. Proteomics analysis further affirmed the presence of key insulin pathway-related proteins involved in the differentiation of PMSCs into Ins-PCs, including LEPR, STC2, MAP2K2, and so forth. Moreover, integrated transcriptomic and proteomic analyses further highlighted LEPR as a potential key regulator for Ins-PC differentiation. These findings demonstrated the feasibility of generating Ins-PCs from PMSCs and identified potential signaling pathways and regulators underlying Ins-PC differentiation, supporting PMSCs as a promising stem cell source of cell-based therapy for diabetes treatment. - Source: PubMed
Publication date: 2026/04/01
Xu JieShen XingguiGu YangLewis David FZoorob DaniWang Yuping - Cardiofaciocutaneous syndrome type 4 (CFC4) is a rare genetic condition caused by pathogenic variants in the MAP2K2 (MEK2) gene, part of the RAS/MAPK signaling pathway. While the broader phenotype of CFC syndrome has been well described, the features specific to this molecular subtype remain poorly defined due to the limited number of cases and underreporting. We conducted a structured analysis of all available literature on CFC4, focusing on organ-specific manifestations, including cardiac, craniofacial, neurological, integumentary, and gastrointestinal features, as well as developmental outcomes, treatment approaches, imaging findings, and behavioral profiles. Cardiofaciocutaneous syndrome type 4 is associated with a recognizable but variable phenotype. Pulmonary valve stenosis and atrial septal defects (ASDs) are the most common cardiac anomalies. Neurological involvement is nearly universal, often presenting as hypotonia and motor delay, with intellectual disability in a subset of cases. Distinctive craniofacial features and ectodermal abnormalities support clinical recognition. Feeding difficulties, sensory integration disorders, and behavioral challenges are frequently observed. Brain magnetic resonance imaging (MRI) abnormalities such as ventriculomegaly and corpus callosum hypoplasia are also relatively frequent. Notably, some individuals with CFC4 exhibit relatively mild phenotypes, with reports of independent functioning in adulthood and a history of familial transmission. In such cases, only mild learning difficulties were described. Better recognition and understanding of CFC4 require consistent and detailed reporting of new cases. To support this, we propose a concise clinical checklist to standardize case descriptions and support diagnosis. - Source: PubMed
Publication date: 2026/03/30
Kubiszewski HubertŚwieca AleksandraŁukasiewicz KacperPierpont Elizabeth IreneSzczałuba Krzysztof - The hypothesis-generating case study aimed at identifying those who are sensitive to anti-PD-L1 and TGF-β bifunctional fusion proteins and exploring potential mechanisms in the treatment of recurrent cervical cancer. We report that recurrent cervical cancer treated with anti-PD-L1 and TGF-β bifunctional fusion proteins in Qilu Hospital of Shandong University show distinct clinical therapeutic outcomes. We describe the clinical course, characteristics, and genetic characteristics of the patients and analyzed the differentially expressed genes (DEGs) following treatment. The elevation of peripheral blood lymphocytes after treatment may predict response to anti-PD-L1 and TGF-β bifunctional fusion proteins, since partial response (PR) and progressive disease (PD) exhibit different trends. A total of 4,844 DEGs were selected between PR and PD patients during the anti-PD-L1 and TGF-β bifunctional fusion protein treatments, which are believed to be involved in the regulation of the immune response. We demonstrated that changing-fate genes continuously change during treatment fostering the IL 17 signaling pathway and TGF-β signaling pathways. Finally, we identified the prognostic genes and validated that high expression levels of PMEPA1, FSTL3, SERPINE1, CXCL1, CXCL8, and low expression levels of JUND，MAP2K2 were significantly associated with poor prognosis of cervical cancer patients using the TCGA database. Anti-PD-L1 and TGF-β bifunctional fusion proteins are feasible and effective for recurrent cervical cancer through the IL 17 signaling pathway and TGF-β signaling pathways. A novel immune infiltration-based gene signature consisting of PMEPA1, FSTL3, SERPINE1, CXCL1, CXCL8, JUND, and MAP2K2 plays a crucial role in recurrent cervical cancer patients with anti-PD-L1 and TGF-β bifunctional fusion proteins. - Source: PubMed
Publication date: 2026/03/23
Mao YucenXing NaidongSun WenxiongBao XinyueLiu XihanWu RichaoPeng Jin - We report a female infant with cardiofaciocutaneous syndrome type 4 (CFC4), an ultra-rare RASopathy caused by a heterozygous (c.619G>A, p.Glu207Lys) variant. From birth, she presented with neonatal hypotonia, respiratory distress, and feeding dysfunction characterized by absent sucking reflex, orofacial hypotonia, and sensory disturbances. Distinct dysmorphic features, including characteristic craniofacial anomalies and macroglossia, were noted. Cardiac evaluation revealed a patent foramen ovale and two small atrial septal defects. Neurologic manifestations included cyanotic apnea, dystonic stiffening, and tremor. Electroencephalography demonstrated bilateral temporoparietal epileptiform discharges, and brain MRI revealed reduced cerebral white matter volume. Although epilepsy has not been definitively diagnosed, the patient remains under ongoing neurological surveillance. Cutaneous involvement included xerotic, papular skin with multiple pigmented nevi and segmental hemangiomas. Ophthalmologic evaluation demonstrated hyperopia with astigmatism. Metabolic assessment suggested mild energetic dysfunction, with elevated triglycerides and citric acid cycle intermediates, without evidence of a defined inborn error of metabolism. Over time, the patient developed persistent feeding difficulties with choking due to oropharyngeal dysfunction, sleep disturbances, delays in gross and fine motor development, and behavioral dysregulation, including aggressive and self-injurious behaviors. Despite the preserved social interest and frequent social approach toward unfamiliar individuals, pronounced anxiety and distress were observed during caregiver absence or reduced attention. This case expands the clinical spectrum of CFC4 associated with MAP2K2 variants, highlighting early feeding dysfunction, paroxysmal neurologic events, and prominent sleep and behavioral disturbances as key diagnostic features. - Source: PubMed
Publication date: 2026/02/11
Świeca AleksandraRydzanicz MałgorzataPloski RafalSzczałuba Krzysztof