MSH6
- Known as:
- MSH6
- Catalog number:
- NB110-59929
- Product Quantity:
- 6 ml
- Category:
- -
- Supplier:
- ACR
- Gene target:
- MSH6
Related genes to: MSH6
- Gene:
- MSH6 NIH gene
- Name:
- mutS homolog 6
- Previous symbol:
- GTBP
- Synonyms:
- -
- Chromosome:
- 2p16.3
- Locus Type:
- gene with protein product
- Date approved:
- 1995-08-29
- Date modifiied:
- 2019-04-23
Related products to: MSH6
Related articles to: MSH6
- Adrenocortical carcinoma (ACC) is a rare malignancy with limited therapeutic options following the failure of standard adjuvant therapies. We present a 54-year-old female with stage IV cortisol-secreting ACC that progressed despite radical adrenalectomy, adjuvant radiation, and mitotane therapy. Comprehensive genomic profiling revealed a complex molecular landscape: a "double hit" driving hypercortisolism ( activation and alteration) and a high tumor mutational burden (11.6 mutations/megabase) driven by converging instability mechanisms (, and somatic mutations, and overexpression), despite stable microsatellite status. Guided by this profile, a salvage regimen of pembrolizumab, ipilimumab and lenvatinib was initiated. The patient achieved a profound clinical response with resolution of Cushing's syndrome and induction of adrenal insufficiency. Follow-up 18F-FDG PET/CT confirmed a sustained partial response per response evaluation criteria in solid tumors (RECIST) 1.1, accompanied by significant metabolic improvement with regression of metastatic burden with evident central photopenia in peritoneal lesions. This case illustrates how multi-faceted genomic analysis can rationalize aggressive combination immunotherapy in refractory ACC. - Source: PubMed
Publication date: 2026/05/04
Nakhleh AfifMahamid AhmadYechiel YanivSaiegh LeonardZolotov SagitStemmer Salomon M - Comparison of immunohistochemical detection of mismatch repair (MMR) proteins within tumours, as deficient MMR is important for (1) the detection of Lynch Syndrome, caused by inherited variants affecting the DNA MMR genes and , (2) aiding MMR gene variant interpretation and (3) deciding on use of immune checkpoint blockade therapy. - Source: PubMed
Publication date: 2026/05/19
Farmkiss Luke ArDodson AndrewParry SuzanneJames Michelle CharmaineFrayling Ian MArends Mark Johan - Microsatellite instability-high (MSI-H) colorectal cancers demonstrate significant responses to immune checkpoint inhibitors. Lynch syndrome, caused by germline mismatch repair gene mutations, typically presents with MSI-H tumours. We report a remarkable case of complete pathological response to pembrolizumab in a young patient with extensive Lynch syndrome-associated metastatic colorectal cancer. A woman in her early 30s with a strong family history of malignancy presented with progressive fatigue and anaemia. Investigations revealed moderately differentiated adenocarcinoma of the hepatic flexure with extensive metastatic disease, including innumerable liver metastases, retroperitoneal lymphadenopathy, and ascites. Molecular testing demonstrated MSI-H status with loss of MutS Homolog 2 (MSH2) and MutS Homolog 6 (MSH6) expression, v-Raf murine sarcoma viral oncogene homolog B (BRAF) wild-type, consistent with Lynch syndrome. Baseline carcinoembryonic antigen (CEA) was approximately 272 ng/mL. In a healthy adult who smokes, CEA is considered within normal limits at a level less than or equal to 5 ng/ml. Given the MSI-H phenotype, first-line pembrolizumab immunotherapy was commenced rather than conventional chemotherapy. The patient demonstrated a dramatic, sustained response over 24 months of pembrolizumab. CEA declined from approximately 300 ng/mL to 1.0 ng/mL. Serial imaging showed progressive tumour reduction with transformation of solid liver metastases into cystic lesions. Post-treatment Positron Emission Tomography-Computed Tomography (PET-CT) demonstrated a complete metabolic response. Following the completion of immunotherapy, the patient underwent right hemicolectomy. Histopathological examination revealed no viable cancer cells in the entire surgical specimen, confirming complete pathological response (ypT0, ypN0, R0). Immune-related adverse events were manageable and did not require treatment discontinuation. The patient remains under active surveillance with stable residual cystic liver lesions and no evidence of disease progression. This case demonstrates that complete pathological responses to pembrolizumab are achievable in MSI-H metastatic colorectal cancer. Universal MSI/mismatch repair (MMR) testing is essential to identify candidates for first-line immunotherapy, and Lynch syndrome should be considered in young patients with MSI-H tumours and a family history of malignancy. - Source: PubMed
Publication date: 2026/04/15
Niazi MuhammadCrossley Richard - Clinical guidelines recommend hereditary cancer risk assessment (HCRA) to identify candidates for genetic counselling and testing based on personal and family history. Incorporating genetic testing into HCRA improves risk stratification and management. We previously showed that process improvements increase genetic testing completion rates. This study describes outcomes of routine genetic testing in a community obstetrics and gynaecology (OB/GYN) setting. - Source: PubMed
Publication date: 2026/05/13
Waldman RichardDeFrancesco MarkFeltz JohnWelling DanielNeiman WadeSmith EdithSchneider LoganLenz LaurenJohansen Taber KatherineAdkins Royce - Synchronous colorectal cancers (SCRCs) with discordant mismatch repair (MMR) status present unique clinical and therapeutic challenges. This case report describes a rare instance of synchronous ascending colon and rectal adenocarcinomas arising from distinct tumorigenic pathways (Lynch-like syndrome and serrated pathway). We aim to explore the mechanism underlying MMR status heterogeneity, and emphasize the clinical value of lesion-specific molecular profiling combined with regional metastatic lymph node MMR phenotyping for individualized treatment of this condition. - Source: PubMed
Publication date: 2026/04/27
Chen DamingZhang JianshengBi JinchaoBai ZhiyueZhang LeiBai Jingzhen