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Identifies a type II intermediate filament protein expressed in simple epithelia and their corresponding carcinomas. It is present in most glandular and ductal epithelial tissues, including liver, pancreas, lung, breast, and gastrointestinal tract. CK8 is commonly used to detect epithelial differentiation in tumors and distinguish carcinomas from non-epithelial neoplasms.
Identifies low–molecular-weight cytokeratins found in most simple epithelial cells and their derived carcinomas. It is expressed in glandular and ductal epithelium of organs such as the liver, pancreas, lung, breast, and gastrointestinal tract, and is useful in confirming epithelial origin in poorly differentiated tumors.
A blend of two monoclonal antibodies targeting acidic and basic cytokeratins, expressed in most epithelial tumors. Useful for confirming carcinoma, distinguishing epithelial from non-epithelial tumors, and identifying carcinomas in undifferentiated malignancies.
Recognizes low molecular weight cytokeratins (CK8 and CK18) found in most simple epithelia and their derived carcinomas. It is useful for identifying epithelial origin in poorly differentiated tumors and is typically positive in adenocarcinomas of the lung, breast, and gastrointestinal tract, while negative in most sarcomas, lymphomas, and melanomas.
Detects high molecular weight cytokeratins expressed in squamous and basal-type epithelial cells. Useful for identifying squamous differentiation and basal layers of glands, and typically negative in simple epithelia, mesenchymal tumors, lymphomas, melanomas, and neuroendocrine tumors.
A monoclonal antibody that detects a broad spectrum of cytokeratins in epithelial cells. It is useful for identifying carcinomas and distinguishing epithelial tumors from non-epithelial malignancies such as sarcomas, lymphomas, and melanomas.
Identifies a nuclear protein expressed in actively dividing cells (late G1, S, G2, and M phases) but absent in resting (G0) cells. It serves as a marker of cell proliferation, helping assess tumor growth rate and prognosis, with higher Ki-67 expression indicating more aggressive disease.
Identifies a nuclear protein expressed in proliferating cells (non-G0 phase). Ki-67 is present during G1, S, G2, and M phases of the cell cycle and absent in resting cells. It is a key marker used to assess tumor proliferation rate and helps determine aggressiveness and prognosis in various cancers.
Identifies a nuclear transcription factor involved in the WNT/β-catenin signaling pathway, normally expressed in T cells and immature pro-B cells. LEF1 is highly expressed in CLL/SLL and is useful for distinguishing it from other small B-cell lymphomas such as mantle cell, marginal zone, and follicular lymphoma.
Identifies a tropic hormone produced by the anterior pituitary that regulates endocrine gland secretion. It is useful for labeling normal gonadotropic cells, assessing pituitary and hypothalamic function, classifying pituitary adenomas, and distinguishing between primary and secondary gonadal failure.
Identifies a cysteine-rich protein involved in hematopoietic development, expressed in germinal center B-cells, endothelial cells, and hematopoietic precursors. It is useful in distinguishing germinal center B-cell–type diffuse large B-cell lymphomas (DLBCLs) from non-germinal center types and is rarely expressed in mature T, NK, or plasma cell neoplasms.
Identifies the lambda light chain of immunoglobulins, useful in diagnosing leukemias, plasmacytomas, and certain non-Hodgkin lymphomas. A decreased kappa-to-lambda ratio indicates lambda light chain restriction, serving as a marker of B-cell clonality and malignancy.
Detects lambda light chain immunoglobulin mRNA in plasma cells, plasmacytoid cells, and immunoblasts. Useful for assessing light chain restriction to distinguish neoplastic from reactive lymphoid proliferations and for evaluating multiple myeloma, plasmacytoma, and related B-cell disorders.
Identifies a type II transmembrane protein expressed in Langerhans cells. It is involved in the formation of Birbeck granules and antigen processing. Langerin is a useful marker for diagnosing Langerhans cell histiocytosis and distinguishing Langerhans cells from other dendritic or histiocytic cell populations.
Pan-Tumor Assay to detect all types of hematologic malignancies throughout DNA & RNA next generation sequencing (NGS). It provides highly informative data that can be used for diagnosis, evaluation of the host immune response, and identification of biomarkers useful for predicting response to various therapies.
This test can significantly reduce the need for bone marrow biopsies for hematology patients. Furthermore,the test can detect chromosomal abnormalities, translocations, and geneamplifications.
All types of hematologic cancers are detected:
RNA sequencing has numerous benefits: ability to detect mutations that modify RNA expression levels, such as alternative splicing, stability, and allele-specific methylation.Additionally, there is an increase in sensitivity due to numerous copies of RNA against one copy of mutated DNA.This strategy, for example, benefits the detection of T-cell and B-cell clonality, HLA class I genotyping and Torque Teno virus (TTV) as a marker of the level of immune competence.
Sensitivity is 0.1 to 0.01 for non-hot spot, 0.01 to 0.001 for hotspot and <0.001 for tumor informed or prior Hx.
For DNA, QNS is rare (<0.1%),but it is higher for RNA (Good DNA results but poor RNA results. Of course, if we receive 3 ml of plasma (6 ml blood), the sample is QNS for performing RNA testing.
VAF (Variant Allele Frequency)value: This value is used to monitor the disease in liquid bx. The higher the VAF means higher tumor load. Patients showing reduction in VAF after treatment means they are doing better.
Highly sensitive pan-cancer assay for solid tumors that evaluates cell free RNA and DNA (cfRNA and cfDNA),providing data used for diagnoses, evaluating the host immune response and identifying biomarkers for predicting responses to various therapies, in some types of cancers like lung, brain, breast, thyroid, colon, oropharyngeal, pancreatic, ovarian and prostate. It aids in detecting changes not detected with tissue biopsies, including germline mutations and mutations in the subclones not present in the tissue sample (heterogeneity).
The cfRNA, allows detection of mutations and fusions (more than 1600 genes) in hematologic and solid tumor samples that may be undetected with conventional cfDNA testing. Examples are T-cell and B-cell clonality, HLA Class I Genotyping, Epstein-Barr Virus (EBV),Human Papillomavirus (HPV) and Torque Teno Virus (TTV).
Sensitivity is 0.1 to 0.01 for non-hot spot, 0.01 to 0.001 for hotspot and <0.001 for tumor informed or prior Hx.
For DNA, QNS is rare (<0.1%),but it is higher for RNA (Good DNA results but poor RNA results. Of course, if we receive 3 ml of plasma (6 ml blood), the sample is QNS for performing RNA testing.
VAF (Variant Allele Frequency)value: This value is used to monitor the disease in liquid bx. The high the VAF means higher tumor load. Patients showing reduction in VAF after treatment means they are doing better.
Assessing tissues affected by hematolymphoid neoplasms.
Identifies a glycoside hydrolase that is a marker for granulocytes and granulocytic neoplasms. It is synthesized predominantly in reactive histiocytes rather than in resting, unstimulated phagocytes. This antibody labels myeloid cells, histiocytes, granulocytes, macrophages, and monocytes. It is helpful in the identification of myeloid or monocytic nature of acute leukemia.
Detects MDM2 gene amplification to aid in diagnosing well-differentiated, atypical lipomatous, and dedifferentiated liposarcomas. It helps distinguish these from benign lipomas and other non-lipomatous or mesenchymal tumors, which typically lack MDM2 amplification.
5Q31/5P15.31 | 7Q31/CHR 7 CEP |CHR8 CEP | 20Q12/20P13
Bisulfite modification and Real-time PCR assays for quantitative analysis of the CpG methylation within the MGMT gene promoter, which has been shown in approximately 40% to 50% of glioblastomas and is associated with an increased likelihood of a favorable response to alkylating agents such as temozolomide (Temodar®).
Identifies a nuclear protein regulating melanocyte development and survival, expressed in most melanomas and normal or benign melanocytic lesions. MITF expression is restricted to the melanocyte lineage.
Identifies a nuclear protein involved in melanocyte development and survival. MITF (RED) is expressed in most melanomas, benign nevi, and normal melanocytes, and is specific to the melanocytic lineage.
Detects a mismatch repair protein essential for maintaining genomic stability. Mutations or loss of MLH1 expression are associated with microsatellite instability (MSI) and are seen in certain colonic, endometrial, gastric, ovarian, and breast carcinomas, as well as in some cases of acute lymphoblastic leukemia.
Bisulfite modification and Real-time PCR assays to detect hypermethylation of the MLH1 gene promoter. It can help distinguish sporadic from inherited colorectal cancers. Percentage of methylated DNA (compared to total DNA) is reported for positive results.Analysis should be considered in combination with IHC, BRAF, and/or MSI.
Identifies epithelial glycoprotein 2, a cell surface protein expressed on epithelial cells but not mesothelial cells. MOC31 is useful for distinguishing adenocarcinoma (positive) from mesothelioma (negative) and does not stain liver or hepatocellular carcinoma, aiding in differentiating liver metastases from primary hepatic tumors.
Bi-directional sequencing analysis on MPL exon 10 to detect all possible mutations including W515(present in patients with primary myelofibrosis and essential thrombocythemia) andS505, present in patients with hereditary thrombocythemia. It also helps to differentiate reactive conditions from Myeloproliferative Neoplasms.
Identifies a mismatch repair protein involved in recognizing mismatched nucleotides during DNA replication. Loss of MSH2 expression leads to genomic instability and is associated with Lynch Syndrome–related tumors, as well as sporadic colorectal and other carcinomas with microsatellite instability (MSI).
Identifies one of the mismatch repair gene products. MSH6 mutations appear to be associated with atypical HNPCC and in particular with development of endometrial carcinoma or atypical endometrial hyperplasia, the presumed precursor of endometrial cancer. Loss of expression can help identify tumors in Lynch Syndrome patients, as well as identify MSI type sporadic colonic and other carcinomas. Loss of MSG6 is generally accompanied by simultaneous loss of MSH2, although selective loss of MSH6 can also be seen.
Identifies methylthioadenosine phosphorylase, an enzyme involved in adenine and methionine salvage pathways. Loss of MTAP expression is commonly associated with homozygous deletion of the CDKN2A gene region on chromosome 9p21, seen in mesothelioma, glioma, and various.
Identifies a high molecular weight glycoprotein (MUC1) expressed on the apical surface of many glandular epithelia, including those of the gastrointestinal, respiratory, urinary, and reproductive tracts. In tumors, MUC1 expression is increased and more diffuse, aiding in the evaluation of breast, colon, lung, gastric, and pancreatic cancers.
Detects Mucin 2 in human tissues such as normal colon, breast, prostate, and salivary gland, as well as in gastrointestinal, colonic, breast, and prostate neoplasia. This antibody labels MUC2 in normal colon and colonic carcinomas where it produces intense perinuclear staining in goblet cells.
An immunohistochemical marker for low-grade fibromyxoid sarcoma (LGFMS) and sclerosing epithelioid fibrosarcoma, useful in determining if performing FISH evaluation for a FUS rearrangement should be considered.
Identifies Mucin 5AC, a high molecular weight glycoprotein normally expressed in the surface gastric foveolar epithelium and some respiratory tract epithelia. It is a useful marker for differentiating gastrointestinal and pancreatobiliary tumors, as well as identifying mucinous adenocarcinomas of various origins.
Detects Mucin 6, a glycoprotein expressed in mucopeptic neck cells and pyloric glands of the gastric mucosa. It is useful as part of an antibody panel for the differentiation and classification of gastric carcinomas.
Identifies the MUM1 gene product, a protein overexpressed in the late plasma-cell–directed stages of B-cell differentiation. It is positive in multiple myeloma, lymphoplasmacytic lymphoma, Reed-Sternberg cells of Hodgkin lymphoma, and about 50% of diffuse large B-cell lymphomas. It shows low expression in marginal zone, follicular, and CLL/SLL lymphomas, and is negative in Burkitt lymphoma. MUM1 expression is associated with poorer prognosis in diffuse large B-cell lymphoma.
Bi-directional sequencing analysis on MYD88 exon 5, including detection of the common L265Pmutation. It helps differentiate lymphoplasmacytic lymphoma (LPL)/Waldenstrom Macroglobulinemia (WM) from other lymphomas, including the B-cell-like (ABC) and germinal center B-cell-like (GCB) subtypes of diffuse large B-cell lymphomas. MYD88is also implicated in susceptibility to BTK inhibitors in the treatment of B-cell neoplasms.
Identifies a breast-associated glycoprotein that is a sensitive and specific marker of carcinomas primary to the breast. In normal breast tissue, this antibody labels breast ductal and lobular epithelial cells; in tumor cells, it reacts with all types of breast adenocarcinoma regardless of tumor differentiation and type. This protein can also be expressed in a subset of salivary gland tumors as well as ovarian carcinomas, but adenocarinomas from other organs rarely express mammaglobin. It can help in the identification of primary cites of carcinomas.
Identifies a differentiation antigen expressed in melanocytes and serves as a sensitive and specific marker for melanoma. It recognizes a subcellular fraction found in melanosomes and is valuable in melanoma panels due to its specificity for melanocytic lesions. Melan A is typically co-expressed with HMB-45 in most melanomas but is also expressed in sex cord-stromal and adrenal cortical tumors, making it useful in distinguishing these neoplasms.
Identifies a melanocyte differentiation antigen present in normal melanocytes and the majority of melanomas. This antibody is a highly sensitive and specific marker for melanocytic lesions and is valuable for distinguishing melanoma from non-melan.
Differentiates between collagen and smooth muscle in tumors and identifies diseases such as cirrhosis of the liver.
Used to identify epithelial mucins, namely acid mucopolysaccharides, in order to distinguish mucin negative undifferentiated squamous cell lesions from mucin positive adenocarcinomas. It also stains the mucopolysaccharide capsule of Cryptococcus neoformans.
Identifies a copper-containing metalloglycoprotein that serves as the rate-limiting enzyme in melanin synthesis. It is a marker of melanocytic cells and tumors and a target for cytotoxic T-cell recognition in melanoma. This antibody stains both melanotic and amelanotic melanomas, though it is generally less sensitive than HMB-45 and MART-1.
Identifies a cell surface glycoprotein expressed in mesothelial cells and malignant mesothelioma, as well as in various carcinomas including ovarian, breast, pancreatic, and squamous tumors. Less specific for mesothelioma compared to WT-1, calretinin, and podoplanin.
Used as a confirmatory marker in the diagnosis of primary biliary cirrhosis (PBC).
Specimen processed by outside lab, stains performed at Vitro as deemed necessary by Vitro pathologist.
Morphology (see above) and ancillary tests (Flow, FISH, etc. as selected) – please refer to the specific tests in our menu.
IGH::FGFR3 | IGH::MAF | IGH::MAFB | IGH::CCND1 T(14;11) |
17P/TP53 | 13Q14.3 (D13S319)/13934 (LAMP1)
Detects the alpha and gamma isotypes of actin found in skeletal, cardiac, and smooth muscle cells. It does not react with other mesenchymal or epithelial cells, except for myoepithelium. Useful for identifying tumors with muscle differentiation and for detecting myoepithelial cells.
The Myeloma MRD Panel by Flow Cytometry evaluates for the presence of minimal residual disease (MRD) in patients with previously diagnosed and treated multiple myeloma. The limit of detection is 0.01%. Markers include VS38c, CD19, CD20, CD27, CD45, CD56, CD81, CD117, CD138, CD269(BCMA), cKappa, and cLambda (12 markers).
Identifies a peroxidase enzyme expressed at high levels in granulocytes involved in phagocytic lysis of foreign particles. Myeloid cells of neutrophilic and eosinophilic types show strong cytoplasmic staining in normal tissues and myeloproliferative disorders. MPO is useful in distinguishing myeloid from lymphoid leukemias.
Identifies a nuclear transcription factor that regulates skeletal muscle differentiation. Expression is restricted to cells of skeletal muscle origin and serves as a sensitive and specific marker for rhabdomyosarcoma.
Identifies a nuclear transcription factor essential for skeletal muscle differentiation. Expression is limited to skeletal muscle cells and is a reliable marker for rhabdomyosarcoma and other muscle-derived tumors.
Useful for detecting myoglobin-containing tubular casts within renal tubules. However, it is not recommended for identifying rhabdomyosarcoma, as more specific markers are available for that purpose.
Identifies a calcium-dependent cell adhesion molecule expressed in neural tissues, myocardium, skeletal muscle, and certain tumors such as neuroendocrine, synovial sarcomas, and melanomas. It is useful in distinguishing prostate adenocarcinoma (typically negative) from prostatic basal cells and other tumor types showing mesenchymal or neural differentiation.
Identifies a low-affinity nerve growth factor receptor expressed in Schwann cells, perineurial cells, melanocytes, and myoepithelial cells. It is a useful marker for identifying peripheral nerve sheath tumors, such as schwannomas and neurofibromas, and can help distinguish these from other spindle cell neoplasms. It also aids in detecting myoepithelial differentiation in salivary gland and breast tumors.
Identifies a nuclear transcription factor involved in neural and neuroendocrine cell development. NKX2.2 is a useful biomarker for distinguishing primitive neuroectodermal tumor/Ewing sarcoma (PNET/ES) from other small round blue cell tumors when used as part of an immunohistochemical panel.
Identifies a nuclear tumor suppressor protein expressed almost exclusively in prostate tissue and prostatic adenocarcinoma. This marker is highly specific for prostatic origin and is valuable in confirming metastatic carcinomas of uncertain primary site when prostate cancer is suspected.
Identifies a nuclear protein expressed in germ cells of the testis and ovary. NUT midline carcinomas (NMCs) are highly aggressive tumors defined by chromosomal rearrangements involving the NUT gene on chromosome 15q14, leading to protein overexpression. Because NUT expression can also be seen in other tumors such as porocarcinoma, NUT IHC positivity alone is not diagnostic of NMC and should be confirmed with molecular testing.
Identifies an aspartic protease expressed by type II pneumocytes in the lung, involved in surfactant processing. It is a highly sensitive and specific marker for pulmonary adenocarcinoma, though expression may also occur in some renal cell and ovarian carcinomas.
Identifies a neuronal nuclear antigen expressed in most neuronal cell types throughout the central and peripheral nervous systems. It serves as a sensitive and specific marker of neuronal differentiation, useful in the evaluation and classification of brain tumors.
Identifies the intermediate filament protein comprising neurofilaments, which are expressed exclusively within tumors of neural origin or tumors displaying neuronal differentiation, such as neuroblastoma, medulloblastoma, and retinoblastoma. This antibody labels neurons, neuronal processes and peripheral nerves, as well as sympathetic ganglion cells and adrenal medulla. The cell bodies of neurons are weakly stained.
Identifies a transcription factor expressed in all normal B cells throughout maturation. When used with BOB1, OCT2 helps distinguish classical Hodgkin lymphoma (where at least one marker is negative) from nodular lymphocyte predominant Hodgkin lymphoma (where both markers are expressed).
Identifies a nuclear transcription factor expressed in early embryonic cells, germ cells, and stem cells. It is a sensitive and specific nuclear marker for classical seminoma and embryonal carcinoma and is useful as a screening marker in metastatic tumors of unknown origin.
Identifies a transcription factor involved in oligodendroglial specification and development. It is expressed in most glial tumors, including oligodendrogliomas and astrocytomas, but is negative in non-glial tumors such as ependymomas, medulloblastomas, CNS lymphomas, meningiomas, schwannomas, atypical teratoid/rhabdoid tumors, and hemangioblastomas.
Detects P120 Catenin, a tyrosine kinase that associates with E-cadherin at the cell membrane and is present in nearly all epithelial tissues. Loss of E-cadherin causes P120 Catenin to relocate to the cytoplasm, making this marker useful for distinguishing lobular (cytoplasmic staining) from ductal (membranous staining) breast neoplasms.
A cyclin-dependent kinase inhibitor that regulates cell cycle progression at the G1 phase. Expression of p21 is influenced by p53 activity and serves as a marker of cell cycle arrest. It can be evaluated in various tumors to assess growth regulation and potential response to therapy.
A cyclin-dependent kinase inhibitor that negatively regulates cell cycle progression at the G1 phase. Loss or reduced expression of p27 is associated with increased cellular proliferation and has been observed in various malignancies, serving as a prognostic indicator in some cancers.
This antibody detects the two isoforms of p63 being the dominant form in basal and myoepithelial cells and in squamous cell carcinomas of the lung and other sites. Because p40 is more specific than p63, its use helps prevent misinterpreting p63-positive adenocarcinomas as squamous cell carcinomas.
Combines p40, a nuclear marker of squamous and basal cells, with myosin, a cytoplasmic myoepithelial marker. Useful for distinguishing benign from invasive breast lesions and identifying squamous differentiation in epithelial tumors.
Identifies the p53 tumor suppressor protein, which regulates cell proliferation and maintains genomic stability. Mutant p53 accumulates in cells, leading to loss of tumor-suppressor function and contributing to malignant transformation. Overexpression of p53 often correlates with underlying p53 mutations and can serve as a marker of malignancy. Elevated p53 levels have been linked to higher proliferative activity and poorer prognosis in cancers such as breast, colon, lung, brain, and certain leukemias and lymphomas.
Identifies p57, a paternally imprinted cell-cycle inhibitor that suppresses G1 cyclin activity and regulates cell proliferation. Loss of p57 expression occurs in the cytotrophoblasts of complete molar pregnancies. The p57 gene, located on chromosome 11p15.5, is a recognized tumor-suppressor candidate implicated in disorders such as sporadic cancers, Wilms tumor, and Beckwith-Wiedemann syndrome. Evaluation of p57 expression combined with ploidy analysis (e.g., FISH) aids in distinguishing complete hydatidiform moles (absent nuclear p57) from partial moles and non-molar hydropic abortions (normal expression).
Identifies a homologue of the p53 gene that is essential for normal breast and prostate development. p63 is expressed in myoepithelial cells, squamous and transitional epithelial cells, and in the basal layer of prostate and other epithelial tissues. Unlike other myoepithelial and basal cell markers, p63 immunoreactivity is localized to the nucleus. Detection of p63, or its absence, is useful for identifying invasive carcinoma in breast and prostate, as well as for the diagnosis of squamous and transitional cell carcinomas.
Combines p63, a nuclear marker of basal and myoepithelial cells, with CK5, a cytoplasmic basal cell marker. Useful for identifying basal cell layers in breast and prostate tissues and distinguishing benign from invasive epithelial lesions.
This antibody cocktail combines p63, a nuclear marker for myoepithelial and basal cells, with smooth muscle myosin heavy chain (SMMHC), a cytoplasmic marker of myoepithelial differentiation. Together, they are highly useful for evaluating breast lesions. The dual stain highlights myoepithelial cell nuclei (brown) and cytoplasm (red), allowing clear identification of the myoepithelial layer. This aids in distinguishing benign breast lesions (which retain myoepithelial cells) from invasive carcinomas (which lack them).
Identifies PAX8, a nuclear transcription factor essential in fetal development and involved in kidney and thyroid differentiation. PAX8 is expressed in major renal cell carcinoma subtypes (clear cell, chromophobe, papillary), as well as in ovarian, endometrial, and thyroid carcinomas. It shows exclusive nuclear staining and performs reliably in FFPE tissues.
Identifies a cell surface protein of the immunoglobulin superfamily expressed on follicular helper T cells, activated T cells, B cells, and myeloid cells. PD-1 highlights TFH cells in germinal centers and is a useful diagnostic marker for TFH-derived T-cell lymphomas, including angioimmunoblastic T-cell lymphoma. Because it stains few B cells, PD-1 offers improved specificity in this setting. PD-1 is also a key target of emerging immunotherapies.
Identifies PD-L1 expression on tumor cells and tumor-associated immune cells. The 22C3 clone is FDA-approved as a companion diagnostic for selecting patients who may benefit from anti–PD-1/PD-L1 immunotherapies, including pembrolizumab. It is used across multiple tumor types, including non–small cell lung carcinoma, head and neck squamous cell carcinoma, gastric/GEJ adenocarcinoma, cervical cancer, and urothelial carcinoma.
Identifies programmed death-ligand 1 (PD-L1), a cell surface protein involved in immune evasion by tumor cells. PD-L1 expression helps assess eligibility for immune checkpoint inhibitor therapies and is seen in a variety of cancers, including lung, breast, bladder, and melanoma. The E1L3N clone is widely used for evaluating PD-L1 expression in tumor and immune cells within the tumor microenvironment.
Bi-directional sequencing analysis of exons 12and 18 of the PDGFRA gene, detected in gastrointestinal stromal tumors(GISTs) including the common TKI-resistance mutation D842V.
Identifies a transmembrane protein involved in cellular and humoral immune response regulation expressed in a variety of cancers on tumor and/or immune cells. Binding of PD-L1 to its ligand PD-1, which is expressed by various immune cell types including T cells, transmits an inhibitory signal that attenuates T cell function, expansion, and survival. Many tumor types can express PD-L1, including breast, ovarian, gastric, pancreatic, lung and renal cell carcinomas, and classical Hodgkin lymphoma. PDL1 expression by tumor cells is thought to inhibit the local immune response to the tumor, at least in part by binding to T cell PD-1 and protecting the tumor from T cell mediated immunity; therefore, blockade of the PD1/PDL1 axis by humanized monoclonal antibodies has emerged as a promising new cancer therapy.
Identifies a neuron-specific cytoplasmic protein expressed in peripheral and central nerve fibers, neuroendocrine cells, and related tumors. It is a sensitive marker of neural and neuroendocrine differentiation and is useful in evaluating neuroendocrine tumors, paragangliomas, pheochromocytomas, and other neoplasms showing neuronal features.
Identifies a phosphorylated form of histone H3 associated with chromatin condensation during mitosis. PHH3 is a sensitive marker for highlighting mitotic figures and is widely used to assess tumor proliferative activity and improve accuracy in mitotic counting in various neoplasms.
Identifies a nuclear transcription factor essential for the development of the autonomic nervous system. PHOX2B is a highly sensitive and specific marker for neuroblastoma, ganglioneuroblastoma, and ganglioneuroma, and is useful in distinguishing these tumors from other small round blue cell neoplasms.
Identifies a nuclear transcription factor involved in pituitary development and hormone regulation. PIT-1 is expressed in somatotroph, lactotroph, and thyrotroph cells and is useful for classifying pituitary adenomas based on lineage differentiation.
Identifies an enzyme produced by syncytiotrophoblasts after the 12th week of pregnancy and strongly expressed in seminomas. It is present in both malignant germ cell and somatic tumors and can aid in distinguishing seminomas and embryonal carcinomas from other undifferentiated malignancies.
Real-time RT-PCR assay for quantitative detection of the t(15;17) PML-RARA genes translocation, found in the vast majority of acute promyelocytic leukemia (APL). Positive results are quantified as a ratio between the abnormal isoform and the normal control gene.Identification of these fusion transcripts is closely correlated with responsiveness to treatment, improvement of survival, monitoring minimal residual disease and predicting relapse.
Identifies a DNA mismatch repair (MMR) protein involved in recruiting other repair factors to correct replication errors during cell division. Loss of PMS2 expression can indicate MLH1-related defects and is useful for detecting Lynch Syndrome–associated tumors, as well as sporadic colorectal and other cancers with microsatellite instability (MSI). PMS2 abnormalities account for a small but meaningful subset of colorectal cancers and are commonly seen in MSI-positive tumors.
DNA test performed by Sanger sequencing to detect mutations within sequenced regions of POLE(NM_006231) including exons 9 (codons 268-303), 11 (codons 358-368), 13 (codons410-453) and 14 (codons 454- 483). The most common POLE mutations include P286R, V411L, S297F, A456P and S459F.
Somatic POLE mutations, primarily affecting the exonuclease domain and proofreading capability of the DNA polymerase epsilon (encoded by the POLE gene), are present in approximate 5-16% of endometrial carcinomas and define a subgroup with numerous mutations (‘ultramutated’; ≥ 100 mutations/Mb), enhanced immune response and excellent clinical outcomes.
Endometrial carcinomas with pathogenic POLE mutations have thus been codified as a distinct clinical entity according to the National Comprehensive Cancer Network (NCCN)guidelines.
Somatic POLE mutations are also present in 1-2% of colorectal carcinomas. Germline POLE mutations –particularly L242V – are also described and are associated with polymerase proofreading-associated polyposis syndrome (PPAP).
This testing is applied only to neoplastic tissue and cannot reliably distinguish between somatic and germline mutations. Genetic counseling and/or germline testing may be indicated to make this distinction.