Ask about this productRelated genes to: IDH2 Blocking Peptide
- Gene:
- IDH2 NIH gene
- Name:
- isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 15q26.1
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: IDH2 Blocking Peptide
Related articles to: IDH2 Blocking Peptide
- RNF43 is frequently inactivated by mutations in pancreatic ductal adenocarcinoma (PDAC), but the molecular mechanisms and therapeutic vulnerabilities associated with RNF43 loss remain poorly defined. Here, we demonstrate that RNF43 functions as an E3 ubiquitin ligase targeting YBX1 for degradation, thereby suppressing mitochondrial oxidative phosphorylation (OXPHOS). In RNF43-deficient PDAC models, stabilized YBX1 activates MYC through dual mechanisms-enhancing MYC mRNA stability via IGF2BP1 and physically interacting with c-Myc protein-leading to transcriptional upregulation of IDH2 and IDH3A and subsequent OXPHOS activation. Importantly, RNF43 loss conferred sensitivity to OXPHOS inhibition both in vitro and in vivo. Treatment with the OXPHOS inhibitor IACS-010759 suppressed the proliferation, migration, invasion, and metastasis of RNF43-mutant tumors. Our findings identify a RNF43-YBX1-MYC signaling axis associated with metabolic reprogramming in pancreatic cancer and suggest that OXPHOS inhibition may represent a potential therapeutic vulnerability in tumors with RNF43-inactivating mutations. - Source: PubMed
Publication date: 2026/05/05
Qin GengduPan PenglinQin YangWei RuozhengZhao YuhanFu QixunYu HaixinLiu JiayingWu HeshuiLiu ZhiqiangZhou Yingke - Sinonasal cancers are malignant neoplasms arising from the nasal cavity and paranasal sinuses, including squamous cell carcinoma (SCC), adenocarcinoma, and undifferentiated carcinoma. Due to their rarity, comprehensive genomic data remain limited. Treatments include surgery, radiation, and chemotherapy, with ongoing trials investigating agents like cetuximab, cisplatin, and Tazemetostat. - Source: PubMed
Publication date: 2025/07/02
Bitar GabrielHsia BeauAlshaka SaifValencia Bastien AKim JeehoSato MarikoCrawford JohnLevy Michael LPolster SeanPatel Vijay A - Plant Homeodomain Finger Protein 6 (PHF6) gene mutations are rare in acute myeloid leukemia (AML), with unclear mechanisms and uncertain prognostic value. They may compromise risk stratification and treatment decisions. This study analyzed clinical features and survival outcomes in PHF6-mutated AML patients, evaluating the impact of allogeneic hematopoietic stem cell transplantation (HSCT) and co-mutations on prognosis. Precise stratification helps optimize prognostic models and guide individualized therapy. - Source: PubMed
Wang DongmeiPan HanzhangWang YunguiXu HuanLiu LinXu YutingTong Hongyan - Concurrent development of therapy-related acute myeloid leukemia (t-AML) and lymph node tuberculosis (LNTB) following comprehensive anti-tumor therapy for locally advanced lung squamous cell carcinoma (LSCC) is extremely rare in clinical practice. This is not a new biological concept but represents a rarely documented clinical scenario in the setting of neoadjuvant chemoimmunotherapy, surgery, and anti-PD-1 maintenance therapy. Herein, we systematically summarize the clinical features, pathogenesis and individualized therapeutic strategies of these two concurrent rare complications based on a single rare case and the latest relevant literature, to provide a reference for clinical diagnosis and treatment. A 54-year-old male patient was initially diagnosed with locally advanced LSCC. After four cycles of neoadjuvant therapy with carboplatin, albumin-bound paclitaxel and pembrolizumab, the tumor lesion regressed markedly. Thoracoscopic right upper lobectomy was then performed, followed by maintenance immunotherapy with single-agent pembrolizumab postoperatively. Four months after maintenance therapy, the patient developed abnormalities on routine blood work, low-grade fever, fatigue and superficial lymphadenopathy. t-AML was confirmed by bone marrow aspiration, immunophenotyping, gene mutation and cytogenetic examinations, accompanied by breast cancer susceptibility gene 2 (), DNA (cytosine-5)-methyltransferase 3 alpha (), and isocitrate dehydrogenase 2 () mutations, and positivity for lysine (K)-specific methyltransferase 2A partial tandem duplication (). Meanwhile, LNTB was diagnosed by lymph node aspiration pathology combined with tuberculosis-specific assays. The patient was treated with an optimized quadruple anti-tuberculosis regimen (HZEM), and induction chemotherapy for AML with VA regimen (venetoclax plus azacitidine) plus revumenib, and supportive therapy. Subsequently, the patient achieved partial remission of leukemia, with no uncontrollable severe adverse events. In this case, LSCC was managed with neoadjuvant therapy, thoracoscopic right upper lobectomy and postoperative maintenance therapy with single agent pembrolizumab. The development of t-AML is primarily driven by cytotoxic DNA damage induced by chemotherapeutic agents, whereas the potential contribution of immune checkpoint inhibitors remains largely speculative. The potential contribution of immune checkpoint inhibitors via immune microenvironmental disturbance remains largely speculative and insufficiently documented by current clinical evidence. The impaired immune function caused by comprehensive anti-tumor therapy may further elevate the risk of LNTB. The overlapping clinical manifestations of the two concurrent diseases substantially increase diagnostic difficulty. Timely and thorough bone marrow examination, lymph node pathological biopsy and tuberculosis-specific screening are the keys to early and accurate diagnosis. - Source: PubMed
Publication date: 2026/04/15
Yu YonglinYang DongmeiChen XiaojuChen Yong - Nodal T-follicular helper cell lymphomas (nTFHL) are aggressive peripheral T-cell lymphomas with unique clinical-biological features. B-cell and/or plasma cell proliferations (B/PCP) are frequently reported in nTFHL, yet their histological spectrum remains incompletely defined. This study aims to delineate the clinical, pathological and molecular features of a retrospective series of nTFHL-associated B/PCP, with particular emphasis on recurrent disease patterns. To this aim, we retrospectively analyzed 39 nTFHL with 45 synchronous and/or metachronous B/PCP, collected from five Italian referral centers for hematological disorders. Multiple B/PCP were documented in 5/39 (12.8%) patients. All diagnoses were established according to the 2022 WHO/ICC criteria, using the nomenclature proposed by the 2023 SH/EA4HP Workshop on T-cell lymphomas. Clinical and pathological data were collected, and recurrent histological patterns were categorized. RHOA, TET2, DNMT3A, and IDH2 mutations were tested in 16 cases. The cohort included 20 males and 19 females (median age: 73.3 years). B/PCP clustered into six diagnostic categories: (i) diffuse large B-cell lymphoma (DLBCL)-like proliferations associated with nTFHL (19/45 [42.2%]), (ii) nodular large B-cell proliferations associated with nTFHL (5/45 [11.1%]), (iii) secondary DLBCL without co-localization of nTFHL (3/45 [6.7%]); (iv) EBV-positive polymorphic B-cell proliferations (10/45 [22.2%]), (v) monotypic plasma cell proliferations (5/45 [11.1%]), and (vi) small B-cell lymphoma-like proliferations with plasma cell differentiation (3/45 [6.7%]). TET2 mutations were detected in 10/16 (62.5%) cases with high allelic burden, whereas DNMT3A and IDH2 mutations were rare. The RHOA mutation was detected in 3 cases, most likely representing contamination by minor nTFHL clones. In conclusion, TFHL-associated B/PCP are a heterogeneous group of lymphoproliferative and plasma cell disorders, displaying recurrent histological patterns and frequent clonal hematopoiesis-associated mutations. Further studies on larger cohorts of patients are warranted to elucidate their biological and clinical implications. - Source: PubMed
Publication date: 2026/04/30
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