| Biomarker | IgH transsituation (t (11;14)) | Full name | Immunoglobulin heavy chain translocation, reciprocal translocation between chromosome 11 and chromosome 14 | Molecular Type | nucleic acid |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | Prognosis and Treatment Options | ||
| Disease(or Constitution) | Multiple Myeloma (MM) | Disease Subtypes | / | ||
| Organ | Bone marrow | Test Sample / Technology Platform | marrow | ||
| Pathobiological Mechanisms | t(11;14) induces overexpression of cyclin D1, resulting in a dormant disease state and sensitivity to BCL-2 inhibitors. | ||||
| Clinical Availability Status | clinical validation/trial application | ||||
| Notes and Dynamics | Patients with t(11;14) positivity who received venetoclax plus bortezomib achieved an overall response rate (ORR) of 78%–90%. Adverse infections should be noted, and the FDA has imposed restrictions on certain trials. | ||||
| Biomarker | sBCMA | Full name | Serum B-cell maturation antigen | Molecular Type | protein |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | Prognosis，Therapeutic Efficacy Monitoring | ||
| Disease(or Constitution) | Multiple Myeloma (MM) | Disease Subtypes | / | ||
| Organ | Bone marrow | Test Sample / Technology Platform | serum | ||
| Pathobiological Mechanisms | BCMA is a surface-specific marker of plasma cells, and the level of sBCMA is positively correlated with tumor burden. | ||||
| Clinical Availability Status | study validation/early clinical | ||||
| Notes and Dynamics | In non-secretory MM, monitoring of M protein replacement; persistent elevation of sBCMA after BCMA-targeted CAR-T (Ide-cel) therapy indicates drug resistance; combination with MRD allows comprehensive assessment of disease status. | ||||
| Biomarker | Full name | Proportion of bone marrow plasma cells>20%, M protein>20g/L, FLC ratio>20 | Molecular Type | protein/cell | |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | risk stratification and progression prediction | ||
| Disease(or Constitution) | Multiple Myeloma (MM) | Disease Subtypes | Smoldering multiple myeloma (SMM) | ||
| Organ | Bone marrow | Test Sample / Technology Platform | marrow、serum | ||
| Pathobiological Mechanisms | Abnormal indicators suggest active clonal plasma cell proliferation and increased risk of progression to symptomatic MM | ||||
| Clinical Availability Status | Clinical validation/guideline recommendation (Mayo, Spanish model) | ||||
| Notes and Dynamics | The 10-year progression rate of high-risk SMM is over 80%, and lenalidomide intervention is recommended; the new model combined with immune paralytic state (decreased uninvoloved immunoglobulin) further improves the prediction accuracy | ||||
| Biomarker | MRD | Full name | minimal residual disease | Molecular Type | Cell/nucleic acid |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | Efficacy evaluation and prognosis | ||
| Disease(or Constitution) | Multiple Myeloma (MM) | Disease Subtypes | / | ||
| Organ | Bone marrow, Peripheral blood | Test Sample / Technology Platform | marrow、peripheral blood | ||
| Pathobiological Mechanisms | The residual minimal residual malignant plasma cells after treatment are the seeds of recurrence | ||||
| Clinical Availability Status | Clinical validation/trial application (Recommended by IMWG, as a partial clinical trial endpoint) | ||||
| Notes and Dynamics | Continuous MRD-negative status (≥1 year) is associated with a 5-year PFS rate exceeding 70%; dynamic MRD monitoring (transition to positivity) holds greater prognostic value than single testing; combined PET-CT can prevent missed diagnosis of extramedullary MRD. | ||||
| Biomarker | del (17p)、t (4;14)、t (14;16)、1q+) | Full name | chromosome abnormality( Deletion of the short arm of chromosome 17、Reciprocal translocation between chromosome 4 and chromosome 14、Reciprocal translocation between chromosome 14 and chromosome 16、Gain/Amplification of the long arm of chromosome 1 | Molecular Type | nucleic acid |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | prognosis, risk stratification | ||
| Disease(or Constitution) | Multiple Myeloma (MM) | Disease Subtypes | / | ||
| Organ | Multiple Myeloma (MM) | Test Sample / Technology Platform | marrow | ||
| Pathobiological Mechanisms | del(17p) leads to TP53 deletion, t(4;14) activates FGFR3/MMSET, t(14;16) overexpresses c-MAF, and 1q+ amplification of CKS1B, all of which enhance tumor invasiveness. | ||||
| Clinical Availability Status | Routine clinical use/guideline recommendations | ||||
| Notes and Dynamics | High-risk abnormal patients exhibit poor response to conventional regimens, and intensive therapy (e.g., double ASCT, CAR-T) is recommended; the incidence of 1q+ is elevated in relapsed patients and may serve as a resistance monitoring indicator. | ||||
| Biomarker | cPCs | Full name | Proportion of clonal plasma cells in bone marrow | Molecular Type | nucleic acid |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | diagnosis, staging | ||
| Disease(or Constitution) | Multiple Myeloma (MM) | Disease Subtypes | / | ||
| Organ | Bone marrow | Test Sample / Technology Platform | marrow | ||
| Pathobiological Mechanisms | The proportion of abnormal clonal plasma cells in the bone marrow reflects tumor burden, with higher proportions indicating poorer prognosis. | ||||
| Clinical Availability Status | International Myeloma Working Group (IMWG) | ||||
| Notes and Dynamics | ≥60% of patients require treatment even without end-organ damage; flow cytometry can simultaneously detect surface markers (CD38, CD138, CD56) to improve the accuracy of clonal identification | ||||
| Biomarker | FLC | Full name | Serum free light chains(involved/uninvoloved) | Molecular Type | protein |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | diagnosis, therapeutic efficacy monitoring, prognosis | ||
| Disease(or Constitution) | Multiple Myeloma (MM) | Disease Subtypes | / | ||
| Organ | Bone marrow, Kidney | Test Sample / Technology Platform | serum | ||
| Pathobiological Mechanisms | Abnormal clonal plasma cells secrete monoclonal free light chains, which deposit in the kidneys and cause damage; the abnormal ratio s1158uggests clonal proliferation. | ||||
| Clinical Availability Status | International Myeloma Working Group (IMWG) | ||||
| Notes and Dynamics | Core monitoring indicators for non-secretory multiple myeloma (MM); elevated free lymphocyte count (FLC) alone is more sensitive than serum M protein and can predict early recurrence; persistent abnormal FLC ratio significantly shortens progression-free survival. | ||||
| Biomarker | LDH | Full name | lactate dehydrogenase | Molecular Type | protein |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | prognosis, disease activity | ||
| Disease(or Constitution) | Multiple Myeloma (MM) | Disease Subtypes | / | ||
| Organ | Bone marrow | Test Sample / Technology Platform | serum | ||
| Pathobiological Mechanisms | Reflects the metabolic activity of tumor cells, with elevated levels indicating rapid tumor proliferation and strong invasiveness | ||||
| Clinical Availability Status | R-ISS staging inclusion criteria, routinely applied in clinical practice | ||||
| Notes and Dynamics | Elevated LDH levels are strongly associated with extramedullary lesions and treatment resistance; R-ISS stage III requires either elevated LDH or any high-risk cytogenetic marker; it can predict the risk of relapse after CAR-T therapy. | ||||
| Biomarker | ALB | Full name | albumin | Molecular Type | protein |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | staging, prognosis | ||
| Disease(or Constitution) | Multiple Myeloma (MM) | Disease Subtypes | / | ||
| Organ | Bone marrow | Test Sample / Technology Platform | serum | ||
| Pathobiological Mechanisms | The low level of serum TNF-α reflected the high tumor load and poor compensatory ability of the body. | ||||
| Clinical Availability Status | International Myeloma Working Group、National Comprehensive Cancer Network (IMWG、NCCN) | ||||
| Notes and Dynamics | Low albumin is associated with an immunosuppressive microenvironment and can predict the risk of infection-related complications; combined with β2-MG, it enhances the prognostic value of ISS staging. | ||||
| Biomarker | β₂-MG | Full name | β₂- microglobulin | Molecular Type | protein |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | diagnosis, staging, prognosis | ||
| Disease(or Constitution) | Multiple Myeloma (MM) | Disease Subtypes | / | ||
| Organ | Bone marrow, Kidney | Test Sample / Technology Platform | serum | ||
| Pathobiological Mechanisms | Reflecting tumor burden, elevated levels are associated with active tumor cell proliferation and renal function impairment, serving as a core indicator for R-ISS staging. | ||||
| Clinical Availability Status | International Myeloma Working Group、National Comprehensive Cancer Network (IMWG、NCCN) | ||||
| Notes and Dynamics | Combination with albumin, LDH, and high-risk cytogenetics enables precise stratification; β2-MG levels should be corrected in cases of renal insufficiency to avoid overestimation of tumor burden. | ||||
| Biomarker | Lipase | Full name | Lipase | Molecular Type | Proteins (hydrolases, mainly pancreatic lipase) |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | Diagnosis of acute pancreatitis (especially early/severe), assessment of disease severity, and assessment of pancreatic exocrine function in chronic pancreatitis | ||
| Disease(or Constitution) | Acute pancreatitis (AP) | Disease Subtypes | / | ||
| Organ | Pancreas | Test Sample / Technology Platform | Serum (biochemical analyzer, enzyme rate method, immunoturbidimetric method, etc.) | ||
| Pathobiological Mechanisms | Lipase, which is mainly synthesized by pancreatic acinar cells and secreted into pancreatic juice, is the key enzyme in the digestive tract to hydrolyze fat (triglycerides) into fatty acids and glycerol, and is produced almost exclusively by the pancreas (few other tissue sources). During the attack of acute pancreatitis, the pancreatic acinar cells were damaged and ruptured, and a large amount of pancreatic lipase was released into the blood. The serum lipase level began to increase at 4-8 hours after the onset of pancreatitis, reached the peak at 24-72 hours, and lasted for 7-14 days, which was significantly longer than that of amylase, and could reflect the state of pancreatic inflammation more persistently. For severe acute pancreatitis, lipase has a longer half-life and a certain amount of lipase is still released when pancreatic necrosis occurs. The positive rate of lipase elevation (about 90%-95%) is higher than that of amylase, and it is related to the degree of pancreatic fat necrosis. In chronic pancreatitis, with the gradual atrophy of pancreatic acinar cells and the decline of exocrine function, serum lipase level can be gradually decreased, which can be used to evaluate the degree of pancreatic exocrine function damage. | ||||
| Clinical Availability Status | It is recommended as a core diagnostic marker by the guidelines for the diagnosis and treatment of acute pancreatitis at home and abroad. It has irreplaceable value especially in the early diagnosis of acute pancreatitis and the diagnosis of suspected cases with normal amylase. It is also used for the evaluation of pancreatic function in chronic pancreatitis. | ||||
| Notes and Dynamics | Lipase is "the core index better than amylase" in the diagnosis of acute pancreatitis. It has the advantages of high specificity (only the main secretion of the pancreas), high sensitivity (higher positive rate in acute pancreatitis), and long duration, which can effectively make up for the lack of specificity of amylase and the defect that it may not be elevated in severe patients. It is especially suitable for the diagnosis of suspected acute pancreatitis patients with normal or slightly elevated amylase, and the disease monitoring of patients with a long course of disease. However, it should be noted that a few diseases such as biliary tract diseases (such as cholecystitis, cholangitis) and pancreatic tumors may also lead to mild elevation of lipase. Clinical interpretation should be combined with symptoms and imaging examinations. In addition, its detection cost is slightly higher than that of amylase, but its comprehensive diagnostic value is higher, and it has become "one of the preferred indicators" for the diagnosis of acute pancreatitis. | ||||
| Biomarker | Amylase | Full name | Amylase | Molecular Type | Protein (hydrolytic enzymes, mainly including saliva amylase, pancreatic amylase) |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | Acute pancreatitis severity diagnosis, a preliminary assessment, therapeutic effect monitoring | ||
| Disease(or Constitution) | Acute pancreatitis (AP) | Disease Subtypes | / | ||
| Organ | Pancreas | Test Sample / Technology Platform | Serum/urine (biochemical analyzer, using enzyme rate method, colorimetry, etc.) | ||
| Pathobiological Mechanisms | Amylase is mainly synthesized by the pancreas (pancreatic amylase, which accounts for 40-50% of total serum amylase) and salivary glands (salivary amylase), and its core function is to hydrolyse starch to maltose in the digestive tract. During the onset of acute pancreatitis, the integrity of pancreatic cell membrane is destroyed due to inflammatory injury of pancreatic tissue, and pancreatic amylase is released into the blood in large amounts. At the same time, pancreatic duct obstruction or pancreatic juice reflux can also cause pancreatic amylase to enter the circulation through the damaged mucosa, which leads to the rapid increase of serum amylase level at 2-12 hours after the onset and reaches the peak at 24-48 hours. In addition, part of pancreatic amylase can be excreted in urine, and urinary amylase elevation occurs later but lasts longer (3-10 days) than serum, which can assist in the diagnosis of acute pancreatitis. The level of amylase elevation is not completely positively correlated with the severity of acute pancreatitis (mild edematous pancreatitis may be significantly increased, severe necrotic pancreatitis due to massive necrosis of pancreatic tissue, amylase synthesis is reduced, the level of amylase elevation is reduced or normal), but it is still a key indicator for early identification of acute pancreatitis. | ||||
| Clinical Availability Status | Routine clinical use: as the core biomarker for the diagnosis of acute pancreatitis, it has been included in the domestic and foreign guidelines for the diagnosis and treatment of acute pancreatitis (such as the Chinese Guidelines for the diagnosis and Treatment of acute pancreatitis (2021)). It is one of the preferred detection indicators for patients with clinically suspected acute pancreatitis, and its application is mature and popular. | ||||
| Notes and Dynamics | Amylase is a "classic index" for the early diagnosis of acute pancreatitis. It has the advantages of fast detection, low cost and high clinical popularity, which can quickly provide clinical diagnosis basis, especially suitable for rapid screening in the emergency setting. However, it should be noted that its specificity is limited: salivary gland diseases (such as mumps), gastrointestinal diseases (such as intestinal obstruction, gastric ulcer perforation), and renal insufficiency may lead to elevated serum amylase. It is necessary to combine the patient's abdominal pain symptoms and imaging examination (such as abdominal CT) to rule out non-pancreatic elevated serum amylase. At the same time, patients with severe acute pancreatitis may have a situation of "no elevation of amylase", which cannot be excluded by the normal level of amylase alone. It needs to be judged comprehensively with other indicators. | ||||
| Biomarker | miR-221, miR-130a, and miR-199a-3p | Full name | MicroRNA-221, MicroRNA-130a, MicroRNA-199a-3p | Molecular Type | Small RNA (miRNA) |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | Diagnosis and condition monitoring | ||
| Disease(or Constitution) | Chronic pancreatitis (CP) | Disease Subtypes | Chronic pancreatitis (CP) | ||
| Organ | Pancreas | Test Sample / Technology Platform | Serum (qRT PCR, chip testing) | ||
| Pathobiological Mechanisms | Regulation of pancreatic stellate cell activation and inflammation-related pathways is significantly abnormal in CP patients, which is related to the degree of fibrosis | ||||
| Clinical Availability Status | Clinical study phase: Expression differences were validated in CP patients for assessing disease severity | ||||
| Notes and Dynamics | Can be used as the CP potential markers of disease monitoring, is expected to be combined with imaging condition assessment accuracy | ||||
| Biomarker | PRSS1, SPINK1, CTRC, CPA1 | Full name | Protease serine 1, Serine peptidase inhibitor Kazal type 1, Chymotrypsin C, Carboxypeptidase A1 | Molecular Type | Nucleic acid (DNA) |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | Susceptibility, risk assessment | ||
| Disease(or Constitution) | Chronic pancreatitis (CP) | Disease Subtypes | Chronic pancreatitis (CP) | ||
| Organ | Pancreas | Test Sample / Technology Platform | Whole blood (genotyping, sequencing) | ||
| Pathobiological Mechanisms | PRSS1 mutations lead to abnormal activation of trypsin, SPINK1 mutations lose the inhibitory function of trypsin, CTRC and CPA1 mutations affect pancreatic enzyme processing, and all increase the risk of CP | ||||
| Clinical Availability Status | Clinical available (risk assessment) : conventional genetic tests available, for familial CP screening and risk prediction | ||||
| Notes and Dynamics | Is the core of the CP genetic susceptibility gene detects targets, can be used for screening high-risk group, guide lifestyle intervention to prevent the disease | ||||
| Biomarker | miR-19a, miR-143, miR-374-5p | Full name | MicroRNA-19a, MicroRNA-143, MicroRNA-374-5p | Molecular Type | Small RNA (miRNA) |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | Diagnosis and Prognosis | ||
| Disease(or Constitution) | Chronic pancreatitis (CP) | Disease Subtypes | Chronic pancreatitis (CP) | ||
| Organ | Pancreas | Test Sample / Technology Platform | Serum, tissue (RNA sequencing, qRT-PCR) | ||
| Pathobiological Mechanisms | It regulates the expression of inflammatory response and fibrosis-related genes, and the abnormal expression occurs in the early stage of CP, earlier than the imaging changes | ||||
| Clinical Availability Status | Cutting-edge research, has set up a file in the queue of small sample verification, distinguish between CP and healthy crowd accuracy is higher | ||||
| Notes and Dynamics | It has tissue specificity and stability, and is expected to become a non-invasive marker for early diagnosis of CP. It is currently being verified in multiple centers | ||||
| Biomarker | TIMP | Full name | Transforming growth factor-beta 1, Tissue inhibitor of metalloproteinase-1 | Molecular Type | Proteins (cytokines/inhibitors) |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | Fibrosis monitoring and prognosis | ||
| Disease(or Constitution) | Chronic pancreatitis (CP) | Disease Subtypes | Chronic pancreatitis (CP) | ||
| Organ | Pancreas | Test Sample / Technology Platform | Serum (ELISA, immunoassay) | ||
| Pathobiological Mechanisms | TGF-β1 promotes the activation of pancreatic stellate cells and collagen deposition, and TIMP-1 inhibits matrix degradation, which jointly promote pancreatic fibrosis | ||||
| Clinical Availability Status | Clinical research phase: positively correlated with the degree of CP fibrosis, used to assess the progression of fibrosis | ||||
| Notes and Dynamics | It is a core marker reflecting the fibrosis process of CP, which can be used to screen patients with high fibrosis risk and guide anti-fibrosis treatment | ||||