Anti - Mouse, MLH1 Clone ZM001
- Known as:
- Anti - Mouse, MLH1 Clone ZM001
- Catalog number:
- 60-0075
- Product Quantity:
- 6 mL
- Category:
- -
- Supplier:
- Genemed
- Gene target:
- Anti - Mouse MLH1 Clone ZM001
Related genes to: Anti - Mouse, MLH1 Clone ZM001
- Gene:
- MLH1 NIH gene
- Name:
- mutL homolog 1
- Previous symbol:
- COCA2
- Synonyms:
- HNPCC, FCC2, HNPCC2
- Chromosome:
- 3p22.2
- Locus Type:
- gene with protein product
- Date approved:
- 1993-11-24
- Date modifiied:
- 2019-04-23
Related products to: Anti - Mouse, MLH1 Clone ZM001
Related articles to: Anti - Mouse, MLH1 Clone ZM001
- Colorectal carcinoma (CRC) metastatic to the breast is exceedingly rare, with 46 cases compiled in a 2019 literature review and additional isolated reports since. The diagnostic challenge is substantially amplified in patients with a prior breast cancer history, in whom new breast lesions are reflexively attributed to recurrence rather than extramammary metastasis. A 71-year-old woman with a significant family history of malignancy presented with invasive lobular carcinoma of the left breast, treated with lumpectomy and hormonal therapy. Four months later, she was diagnosed with stage I endometrioid adenocarcinoma of the uterus; immunohistochemistry of the hysterectomy specimen revealed isolated PMS2 loss with preserved MLH1, MSH2, and MSH6 expression, and comprehensive germline testing of 35 hereditary cancer predisposition genes was negative, establishing a Lynch-like phenotype in that tumor. Approximately four years after her breast cancer diagnosis, she developed a maculopapular rash with skin thickening of the left breast, without a discrete mass; the clinical and mammographic presentation was concerning for inflammatory breast carcinoma. Punch biopsy demonstrated poorly differentiated adenocarcinoma with signet ring cell features, immunohistochemically positive for SATB2, CDX2, CK20, and CEA and negative for CK7, ER, PR, HER2, and GATA3, confirming colorectal origin and excluding breast cancer recurrence. Mismatch repair immunohistochemistry on the same specimen demonstrated retained expression of all four proteins, discordant with the endometrial primary and concordant with microsatellite instability-stable status and a tumor mutational burden of 3.7 mutations/Mb. Next-generation sequencing identified a TP53 splice region loss-of-function variant with RAS and BRAF wild-type status. Positron emission tomography revealed stage IV disease with hepatic metastasis, and colonoscopy identified synchronous cecal and recto-sigmoid masses. She was treated with four lines of systemic therapy and palliative radiation to the breast, and died approximately 20 months after the metastatic diagnosis. This case illustrates two points. First, any new breast lesion in a patient with prior malignancy requires histopathologic confirmation with comprehensive immunohistochemical analysis, as neither recurrence nor a primary breast process can be assumed. Second, mismatch repair status is a property of the individual tumor rather than of the patient; in patients with multiple primaries, each tumor requires independent testing, and molecular findings from one cannot be extrapolated to another. - Source: PubMed
Publication date: 2026/08/28
Walters Morgan LFigueroa Quast Andres - Lynch syndrome (LS) is the most common cause of hereditary colorectal and endometrial cancer. LS is caused by germline pathogenic variants (PV) in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and EPCAM. Little is known about LS in Iraqi/Chaldean and broader Middle Eastern and North African populations. We describe our institution's experience with a unique MSH2 PV in a cohort of Iraqi/Chaldean patients. Records of patients with LS and Iraqi/Chaldean ancestry seen in a high-volume cancer genetics center between January 2008 and March 2024 were analyzed. A total of 483 LS patients were identified, of whom 60 (12.4%) reported Iraqi/Chaldean ancestry. Of those, 53 individuals (88.3%) from 22 unique families harbored the same PV in MSH2, c.932delA (p.N311Tfs*20) and were analyzed in this study. This variant was detected only in our Iraqi/Chaldean population. Of individuals with this variant, 28 (52.8%) had at least one LS-related cancer diagnosis (17 colorectal, 12 endometrial, 7 renal/urothelial, 6 ovarian, one sebaceous carcinoma), of whom 16 (57.1%) had multiple malignancies. The average age of colorectal cancer onset was 49.6 years. Additionally, 14 families (63.6%) underwent cascade testing, identifying 31 of the MSH2 carriers in this cohort and 25 true negatives. This is the first report of a recurrent MSH2 c.932delA PV in Iraqi/Chaldean patients with LS. These findings suggest a putative LS founder variant in the Iraqi/Chaldean population, and further studies are needed to characterize LS in this population. - Source: PubMed
Publication date: 2026/09/27
Bradley MikaelaRangarajan TaraZakalik Dana - Endometrial carcinoma is the most common malignancy of the female genital tract, and endometrial intraepithelial neoplasia (EIN, also termed atypical endometrial hyperplasia) is its recognized precursor lesion. Mismatch repair (MMR) deficiency, identified through loss of MLH1, PMS2, MSH2, and MSH6 expression on immunohistochemistry (IHC), is an important molecular event in endometrial carcinogenesis with diagnostic, prognostic, and hereditary (Lynch syndrome) implications. Comparatively few studies have examined the frequency of MMR loss in EIN. This study evaluated the proportion and patterns of MMR protein loss in EIN and endometrial carcinoma, with descriptive assessment of MMR protein loss according to histopathological grade of endometrial carcinoma. - Source: PubMed
Publication date: 2026/08/25
Maheshwari UjwalaAnand RamanaShah Vrutika - : This study aimed to investigate the relationships among mismatch repair (MMR) protein status, clinicopathological characteristics, and Programmed Death-Ligand 1 (PD-L1) expression in endometrial cancer, focusing specifically on heterogeneity within MMR-deficient (MMRd) tumors defined by distinct protein loss patterns. : This retrospective study enrolled 675 patients with surgically confirmed endometrial cancer at a tertiary medical group between January 2017 and June 2025. Patients were stratified according to specific MMR protein loss patterns. Clinicopathological parameters, the International Federation of Gynecology and Obstetrics (FIGO) stage, and PD-L1 combined positive score were compared across groups. : The cohort comprised 502 MMR-proficient (MMRp) and 173 MMR-deficient (MMRd) patients. Based on their specific MMR protein loss patterns, the MMRd cases were further stratified into three subgroups: MutLαcomplex loss (MLH1 ± PMS2, = 105), MutSαcomplex loss (MSH2 ± MSH6, = 60), and combined MutSα/MutLαcomplex loss ( = 8). Compared with MMRp tumors, MMRd tumors exhibited significantly lower BMI, higher tumor grade, more frequent lymphovascular space invasion, and elevated PD-L1 expression. Moreover, the 2023 FIGO staging system demonstrated superior performance in capturing the locally aggressive features of MMRd tumors relative to the 2009 edition. Within the MMRd cohort, the overall difference in combined positive score reached nominal significance ( = 0.049) but did not survive FDR correction (q = 0.290). Nevertheless, at the 1% and 5% cutoffs, MutLα-deficient tumors consistently showed higher PD-L1 positivity than MutSα-deficient tumors, with both associations remaining significant after FDR adjustment (q = 0.046 for both). Further subgroup analysis within the MutLα loss pathway revealed that isolated MLH1 loss was associated with a lower rate of CPS ≥ 1% (85.7%) compared with isolated PMS2 loss (91.3%) and combined MLH1/PMS2 loss (89.3%), in contrast. No significant heterogeneity in PD-L1 expression was observed across the MutSα-deficient subgroups. : MMRd endometrial cancer heterogeneity is primarily driven by MutSα and MutLα deficiency. MutSα loss associates with higher PD-L1 expression, suggesting a favorable immune profile warranting further study. Isolated MLH1 loss correlates with the lowest PD-L1 and aggressive features. These findings refine biological understanding and provide a hypothesis-generating rationale for biomarker-guided stratification in immunotherapy. - Source: PubMed
Publication date: 2026/09/11
Xiao YunyunYu HaoHuang DanyuLiu ShijiaWang YapingRen RanHu HanfuWang ShuoyanYu HaoyuLi YiHan Lu - Lynch syndrome (LS) is associated with gastric cancer (GC) and duodenal cancer (DC), but risk estimates and the role of upper endoscopy surveillance remain uncertain. - Source: PubMed
Publication date: 2026/09/25
Ausina-Poüs VíctorBaile-Maxía SandraSáez-Rico MaríaSala-Miquel NoeliaMangas-Sanjuan CarolinaMartínez-Tévar IreneSánchez-Ardila CarmenZapater PedroCavestro Giulia-MartinaMannucci AlessandroLevi ZoharIdos GregoryBurke Carol AJover Rodrigo