Tumor Markers and Genetic Markers – Use for Specific Malignancy

The following information is from multiple guideline sources as recommendations for use of tumor markers and genetic markers.

• Gastrointestinal

  Tumor Type	Marker	Recommended Use	Recommending Organizations*
  Hepatic	AFP	Monitoring	ACS, NCCN, ESMO, NACB
  		Early detection in high-risk patients	ACS, NCCN, ESMO, NACB
  	AFP-L3%	Monitoring, early detection in high-risk patients, prognosis	NACB
  	DCP	Monitoring, early detection in high-risk patients, prognosis	NACB
  Gastric	No markers with good evidence	None available	NACB
  	Helicobacter pylori	Environmental risk factor	NCCN
  	E-Cadherin mutations	Risk factor in hereditary forms	NCCN
  Pancreatic (ductal adenocarcinoma)	CA19-9	Monitoring	NCCN, ESMO, NACB
  		Diagnosis	NCCN, NACB
  Colorectal	CEA	Monitoring	ASCO, NACB, ESMO, NCCN
  		Monitoring advanced disease	ASCO, NACB
  		Prognosis	ASCO, ACS, ESMO, NCCN, NACB (if used with other prognostic features)
  	KRAS mutation	Predict response to EGFR inhibitors, prognosis	NCCN, ASCO
  	BRAF V600E	Lynch syndrome risk assessment	NACB
  	MSI/HNPCC (molecular and/or IHC)	Colorectal and Lynch syndrome risk assessment	NCCN, NACB
  	MLH1, MSH2, MSH6, PMS2	Lynch syndrome risk assessment	ESMO, NCCN, NACB
  ACS = American Cancer Society, NCCN = National Comprehensive Cancer Network, ESMO = European Society of Medical Oncology, ASCO = American Society of Clinical Oncology, NACB = National Academy of Clinical Biochemistry *Organization also searched: American Gastroenterological Association

• Neuroendocrine

  Tumor Type	Marker	Recommended Use	Recommending Organizations
  All neuroendocrine tumors	Chromogranin A (serum, IHC)	Diagnosis	NCCN, ESMO, NACB
  		Recurrence	NACB
  		Monitoring	NACB
  	Synaptophysin (serum, IHC)	Diagnosis	NCCN
  	Prolactin (serum, IHC)	Diagnosis	NCCN
  	CK (Cytokeratin) (serum)	Diagnosis	NCCN
  	Ki-67 (MIB-1) (IHC)	Diagnosis	NCCN
  Carcinoid	5-HIAA (urine)	Diagnosis	NCCN, ESMO, NACB
  		Monitoring for specific tumor	NCCN, ESMO, NACB
  	Serotonin (serum)	Diagnosis	NACB
  	Chromogranin A (serum, IHC)	Diagnosis and monitoring	NCCN
  	Gastrin (serum, IHC)	Diagnosis and monitoring	NCCN
  	Pancreatic polypeptide (serum, IHC)	Diagnosis and monitoring	NCCN
  Gastrinoma	Gastrin (serum, IHC)	Diagnosis and monitoring	NCCN, ESMO, NACB
  Glucagonoma	Glucagon (serum, IHC)	Diagnosis and monitoring	NCCN, ESMO, NACB
  Pheochromocytoma	Metanephrines (plasma, urine)	Diagnosis and monitoring	NCCN, ESMO, NACB
  	Catecholamines (urine)	Diagnosis and monitoring	NCCN, ESMO, NACB
  Insulinoma	Proinsulin (serum, IHC)	Diagnosis and monitoring	NCCN, ESMO, NACB
  	Insulin (serum, IHC)	Diagnosis and monitoring	NCCN
  	C-peptide (serum, IHC)	Diagnosis and monitoring	NCCN
  Pituitary	Growth hormone (serum, IHC)	Diagnosis and monitoring	NCCN, ESMO, NACB
  	IGF-1 (serum)	Diagnosis and monitoring	NCCN
  	Prolactin (serum, IHC)	Diagnosis and monitoring	NCCN
  	LH/FSH (serum, IHC)	Diagnosis and monitoring	NCCN
  	TSH (serum, IHC)	Diagnosis and monitoring	NCCN
  	Alpha subunit (serum, IHC)	Diagnosis and monitoring	NCCN
  	ACTH (serum, IHC)	Diagnosis and monitoring	NCCN
  VIPoma	VIP (serum, IHC)	Diagnosis and monitoring	NCCN, ESMO, NACB
  Pancreatic neuroendocrine carcinoma	Pancreatic polypeptide (serum, IHC)	Diagnosis and monitoring	NCCN, ESMO, NACB
  	Calcitonin (serum, IHC)	Diagnosis and monitoring	NCCN
  	PTH-related peptide (serum)	Diagnosis and monitoring	NCCN
  	PTH (IHC)	Diagnosis and monitoring	NCCN
  	Somatostatin (serum, IHC)	Diagnosis and monitoring	NCCN
  NCCN = National Comprehensive Cancer Network, ESMO = European Society of Medical Oncology, NACB = National Academy of Clinical Biochemistry

• Lung

  Tumor Type	Marker	Recommended Use	Recommending  Organizations*
  Small cell  (SCLC)	NSE (serum, IHC)	Monitoring	ACS, NACB
  		Prognosis	NACB
  	Chromogranin A	Prognosis	NACB
  Non-small cell  (NSCLC)	CEA, SCC Ag	Monitoring, prognosis, detecting relapse	NACB, ASCO
  	CK19 fragment  (CYFRA 21-1),	Prognosis	ASCO
  Mesothelioma	Soluble mesothelin related peptides (Mesomark®)	Monitoring	IMIG, NACB, NCCN
  	CK 5,6	Diagnosis	NCCN
  	CEA	Diagnosis	NCCN
  	b72.3	Diagnosis	NCCN
  	WT-1	Diagnosis	NCCN
  	TTF-1	Diagnosis	NCCN
  	Calretinin	Diagnosis	NCCN
  ACS = American Cancer Society, ASCO = American Society of Clinical Oncology, IMIG = International Mesothelioma Interest Group, NACB = National Academy of Clinical Biochemistry, NCCN = National Comprehensive Cancer Network *Organizations also searched: American Thoracic Society (ATS), British Thoracic Society (BTS), American College of Chest Surgeons (ACCP)

• Female gynecologic/genitourinary

  Tumor Type	Marker	Recommended Use	Recommending Organizations
  Breast	Estrogen, progesterone receptor (tissue)	Predict hormone response	ASCO, ESMO, NCCN, NACB
  		Prognosis	ASCO (do not use alone), NCCN, NACB (do not use alone), ACS
  	b72.3	Diagnosis	NCCN
  	HER, HER2, HER-2/neu (tissue)	Predict response to Herceptin	ASCO, ESMO, ACS, NCCN, NACB
  		Prognosis	NCCN, NACB
  		Predict response to anthracyclines	ASCO, NCCN, NACB
  	uPA/PAI-1 (tissue)	Prognosis	ASCO, ACS, NACB
  	CA 15-3, CA 27-29	Monitoring advanced disease	ASCO, ESMO, NACB, ACS
  	CEA	Monitoring advanced disease	ASCO, NACB
  	BRCA1, BRCA2	Identifying high-risk patients	ASCO, NCCN, NACB
  	HER-2/neu (serum)	Monitoring, prognosis	NACB
  	p53	Prognosis	NACB
  Cervical	HPV	Risk assessment	NCCN, NACB
  	SCC Ag	Monitoring	NACB
  Ovarian	CA 125	Monitoring	ESMO, NACB, NCCN
  		Differential diagnosis is suspicious pelvic mass	NACB, NCCN
  		Detection of recurrence	ESMO, NACB, NCCN
  		Prognosis	ESMO, NACB
  	βhCG	Diagnosis, recurrence	NCCN
  Gestational trophoblastic	βhCG	Monitoring	ACS, NACB, NCCN
  		Diagnosis	ACS, NACB, NCCN
  Bladder	BTA stat®, BTA TRAK®, NMP22®, UroVysion™, ImmunoCyt™	Monitoring, early detection	ACS, NACB, NCCN
  ASCO = American Society of Clinical Oncology, ESMO = European Society of Medical Oncology, NCCN = National Comprehensive Cancer Network, NACB = National Academy of Clinical Biochemistry, ACS = American Cancer Society

• Male Genitourinary

  Tumor Type	Marker	Recommended Use	Recommending Organizations*
  Prostate	PSA	Screening	ACS, AUA, EAU, ESMO, NACB, NCCN
  		Staging and prognosis	AUA, EAU, ESMO, NCCN, NACB
  		Monitoring	AUA, EAU, ESMO, NCCN, NACB
  		Follow-up and negative biopsy	NCCN, NACB
  	PCA3	Screening	NACB
  Bladder	BTA stat®, BTA TRAK®, NMP22®, UroVysion™, ImmunoCyt™	Monitoring, diagnosis	ACS, NACB, NCCN
  Germ cell (testicular)	βhCG and AFP	Diagnosis and differential diagnosis of nonseminomatous germ cell cancer of the testes	ASCO, EAU, ESMO, NACB, NCCN
  		Staging and prognosis	ASCO, EAU, ESMO,  NACB, NCCN
  		Monitoring	ASCO, EAU, ESMO, NACB, NCCN
  		Detecting recurrence	ASCO, EAU, ESMO, NACB, NCCN
  	LD	Diagnosis	ASCO, EAU, ESMO, NACB, NCCN
  		Staging and prognosis	ASCO, EAU, ESMO, NACB, NCCN
  		Monitoring	ASCO, EAU, ESMO, NACB, NCCN
  		Detecting recurrence	ASCO, EAU, ESMO, NACB, NCCN
  ACS = American Cancer Society, ASCO = American Society of Clinical Oncology, AUA = American Urological Association, EAU = European Association of Urologists, ESMO = European Society of Medical Oncology, NACB = National Academy of Clinical Biochemistry, NCCN = National Comprehensive Cancer Network

  Brain

  Tumor Type	Marker	Recommended Use	Recommending Organizations
  Oligodendroglioma	1p/19q Deletion by FISH	Diagnosis	NACB
  NACB = National Academy of Clinical Biochemistry

  Soft Tissue/Sarcomas

  Tumor Type	Marker	Recommended Use	Recommending Organizations
  Ewing sarcoma	EWSR1 – Ewing sarcoma by RT-PCR	Diagnosis	ESMO, NACB, NCCN
  	EWSR1 rearrangement by FISH	Diagnosis	NACB, NCCN
  Synovial	SYT, SYT-SSX	Diagnosis	NACB, NCCN
  	SYT rearrangement by FISH	Diagnosis	NACB, NCCN
  Rhabdomyosarcoma	PAX-FKHR	Diagnosis	NACB, NCCN
  Kaposi sarcoma	HHV8	Diagnosis	NACB, NCCN
  ESMO = European Society of Medical Oncology, NACB = National Academy of Clinical Biochemistry, NCCN = National Comprehensive Cancer Network

  Lymphoma

  Tumor Type	Marker	Recommended Use	Recommending Organizations
  B-cell and T/NK-cell	IGH/BCL2	Diagnosis and differentiation of lymphomas	NCCN, NACB
  	IGH/CCND1	Diagnosis of mantle cell (MCL) subtype	NCCN, NACB
  	API2-MLT1 t(11;18)	Diagnosis of a subset of MALT lymphomas	NCCN, ESMO, NACB
  	ALK rearrangements	Diagnosis and differentiation	NCCN, NACB
  	c-Myc (MYC rearrangements [t(8;14)])	Diagnosis and differentiation of Burkitt lymphoma	NCCN
  	CD2, CD3, CD4, CD5, CD7, CD8, CD10, CD14, CD15, CD19 (BCL-6), CD20, CD21, CD23, CD33, CD45 (LCA), CD52, CD56, CD57, CD64, CD79a, CD117 (c-KIT), CD138	Diagnosis and differentiation	NCCN, NACB
  	Cyclin D1, SP4 t(11;14)	Diagnosis of MCL and multiple myeloma	NCCN
  	EBV-LMP1, EBV-EBER	Diagnosis and differentiation	NCCN
  	Granzyme B	Diagnosis	NCCN
  	Ki-67 (MIB-1)	Diagnosis	NCCN
  	HTLV	Diagnosis and differentiation	NCCN
  	PAX-5	Diagnosis and differentiation	NCCN
  	TIA-1	Diagnosis and differentiation	NCCN
  	MUM1/IRAF4	Diagnosis and differentiation	NCCN
  NCCN = National Comprehensive Cancer Network, ESMO = European Society of Medical Oncology, NACB = National Academy of Clinical Biochemistry

  Leukemia

  Tumor Type	Marker	Recommended Use	Recommending Organizations
  ALL	BCR/ABL1	Diagnosis, prognosis, monitoring	NACB
  	c-Myc (MYC rearrangements [t(8;14)])	Diagnosis and differentiation	NCCN
  	ETV6/RUNX1(TEL/AML1) t(12;21)(p13;q22)	Diagnosis, prognosis, monitoring	NACB
  	E2A/PBX1 t(1;19)(q23;p13.3) (TCF3-PBX1)	Diagnosis, prognosis, monitoring	NACB
  	Hyperdiploidy (+4, +10, +17)	Diagnosis, prognosis, monitoring	NACB
  	MLL rearrangement	Diagnosis, prognosis, monitoring	NACB
  	IGH rearrangement	Diagnosis, prognosis, monitoring	NACB, NCCN
  AML	RUNX1/RUNX1T1 t(8;21)	Diagnosis of prognostically important genetic subtype	ESMO, NACB
  	FLT3-ITD	Prognosis	ESMO, NACB
  	Philadelphia chromosome t(9;22)	Diagnosis and prognosis	NCCN
  	inv(16) or t(16;16) of CBFβ/MYH11	Diagnosis and prognosis	ESMO, NACB, NCCN, WHO
  	AML1/ETO t(8;21)	Diagnosis and prognosis	NCCN, WHO
  	MLLT3-MLL t(9;11)	Prognosis	NCCN
  	c-KIT (CD117)	Prognosis	NCCN
  	NPM1	Prognosis	NCCN
  	CEBPA	Prognosis	NCCN
  	inv(3), t(3;3) EVI1	Prognosis	NCCN
  	DEK/NUP214 t(6;9)(p23;q34)	Prognosis	NCCN
  	PML/RARα , t(15;17)	Diagnosis	ESMO, NACB, NCCN
  	11q23 (MLL)	Prognosis	ESMO, NACB, NCCN
  CLL	ZAP-70	Diagnosis	NCCN, NACB, ESMO
  		Prognosis	ESMO, NACB
  	IgVH mutation	Prognosis	NCCN, ESMO, NACB
  CML	BCR/ABL1	Diagnosis	ESMO, NACB, NCCN
  		Prognosis	NACB, NCCN
  		Monitoring	ESMO, NACB
  	Philadelphia chromosome t(9;22)	Diagnosis and prognosis	NCCN
  ESMO = European Society of Medical Oncology, NCCN = National Comprehensive Cancer Network, NACB = National Academy of Clinical Biochemistry, WHO = World Health Organization

  Myeloproliferative Neoplasms

  Tumor Type	Marker	Recommended Use	Recommending Organizations
  Myeloproliferative	JAK2	Diagnosis	NACB
  Myeloproliferative with associated eosinophilia	PDGFRα, PDGFRβ and FGFR1 rearrangements by FISH	Diagnosis	NACB, WHO
  NACB = National Academy of Clinical Biochemistry, WHO = World Health Organization

  Childhood Tumors

  Tumor Type	Marker	Recommended Use	Recommending Organizations
  Neuroblastoma	NSE	Prognosis	NACB
  	N-myc	Prognosis	NACB
  	HVA, VMA, catecholamines	Diagnosis, monitoring	NACB
  Childhood leukemia	MLL-AF4 rearrangement	Diagnosis	NACB
  	BCR/ABL1	Diagnosis, prognosis, monitoring	NACB, NCCN
  	ETV6/RUNX1(TEL/AML1) t(12;21)(p13;q22)	Diagnosis, prognosis, monitoring	NACB, ASCO
  	Hyperdiploidy (+4, +10, +17)	Diagnosis, prognosis, monitoring	NACB
  	MLL-AF4, t(4;11)	Diagnosis, prognosis, monitoring	NACB
  ASCO = American Society of Clinical Oncology, NACB = National Academy of Clinical Biochemistry, NCCN = National Comprehensive Cancer Network

  Skin

  Tumor Type	Marker	Recommended Use	Recommending Organizations
  Melanoma	TA90-IC	Monitoring, prognosis	ACS, NACB
  	S-100, HMB45 (gp100)	Diagnosis, usually used in combination	ACS, NACB
  	S-100B (serum)	Monitoring, prognosis	ACS, NACB
  	c-Kit	Response to therapy	ACS
  ACS = American Cancer Society, NACB = National Academy of Clinical Biochemistry

  Head and Neck

  Tumor Type	Marker	Recommended Use	Recommending Organizations
  Squamous cell cancers	SCC Ag	Monitoring	NACB
  	CK 19 fragment (CYFRA 21-1)	Prognosis	ASCO
  	HPV	Risk assessment	NACB
  Burkitt lymphoma	EBV-LMP1	Diagnosis	NACB, NCCN
  ASCO = American Society of Clinical Oncology, NACB = National Academy of Clinical Biochemistry, NCCN = National Comprehensive Cancer Network

  Thyroid/Parathyroid

  Tumor Type	Marker	Recommended Use	Recommending Organizations
  Well-differentiated	BRAF V600E (tissue)	Diagnosis	NACB
  	BRAF V600E (serum)	Prognosis	NACB
  	Thyroglobulin (serum)	Diagnosis, monitoring	NCCN, AACE, NACB
  	Thyroglobulin (IHC)	Diagnosis	NACB
  Medullary thyroid carcinoma	Calcitonin	Monitoring, diagnosis	NCCN, AACE, NACB
  	CEA	Diagnosis, monitoring	NCCN, NACB
  Parathyroid	PTH, calcium	Diagnosis, monitoring	NCCN, NACB
  	PTH-related peptide	Diagnosis and monitoring	NCCN
  Hereditary forms	HRPT2	Genetic risk assessment for parathyroid carcinoma or primary hyperparathyroidism	NACB
  	MEN1	Genetic risk assessment for MEN1	AACE, NACB, NCCN
  	RET	Genetic risk assessment for MEN2	AACE, NACB, NCCN
  NCCN = National Comprehensive Cancer Network, AACE = American Association of Clinical Endocrinologists, NACB = National Academy of Clinical Biochemistry

Tumor and genetic markers may be useful in the diagnosis, treatment, monitoring and prognostication of specific tumors. Available markers include those in the following table (most are available at ARUP^® Laboratories); for recommendations, see the Diagnosis tab. The information that follows is general in nature. For specific information regarding use and interpretation of various markers and tests, consultation with a pathologist is highly advised.

Tumor Markers 

• Tumor markers - #

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  1p/19q, d(1;19)	Oligodendroglioma		T
  5-HIAA	Carcinoid				U
  11q23 (MLL)	Acute lymphocytic leukemia (ALL)	B,T	B
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - A

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  AccuDx FDP	Bladder				U
  ACTH	Neuroendocrine			T	B
  AFP	Hepatocellular (HCC), germ cell, ovarian, GI tract			T	B
  AFP-L3%	HCC				B
  ALK rearrangement	Lymphoma, non-small cell lung (NSCLC)1		T	T	T1
  Alpha subunit	Neuroendocrine (pituitary)			T	B
  AML1/ETO t(8;21)	Acute myeloid leukemia (AML)	B,T	T
  API2-MLT1 t(11;18)	Lymphoma, mucosa-associated lymphoid tissue (MALT)	T
  APC	Colorectal	T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - B

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  b72.3	Mesothelioma, lung, breast, ovarian, colon			T
  BF-1	Lymphoma			T
  BG-8 (Lewis Y)	Breast, lung			T	B
  BOB-1	Lymphoma			T
  BRAF V600E	Lynch syndrome, melanoma, thyroid	T
  BTA stat® (Bladder tumor antigen)	Bladder				U
  BTA TRAK®	Bladder				U
  BCR/ABL1 t(9;22)(q34;q11.2)	Chronic myelogenous leukemia (CML), ALL-L1/L2 subtypes	B	B,T		T
  BCL-6 (CD19)	Lymphoma, B-ALL		T	T	B
  bcl-1/JH t(11;14)	Lymphoma	B	T	T	T
  bcl-2/JH t(14;18)	Lymphoma	B	T	T	T
  β-hCG	Trophoblastic, germ cell, lung, melanoma, gastrointestinal, ovarian			T	B
  BRCA1, BRCA2	Breast	B			T
  BRST II (GCDFP-15)	Breast			T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - C

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  c-Myc (MYC rearrangements [t(8;14)])	Lymphoma (Burkitt lymphoma), B-ALL	B,T	T	T
  CA 125	Ovarian, cervical, uterine			T	B
  CA 15-3	Breast, pancreatic, lung, ovarian				B
  CA 19-9	Pancreatic, gastric, colon, breast, biliary tract				F
  CA 27.29	Breast				B
  C-peptide	Neuroendocrine				B
  Calcitonin	Neuroendocrine, medullary thyroid carcinoma (MTC)			T	B
  Calcium	Parathyroid				B
  Calretinin	Mesothelioma, lung			T
  Catecholamines	Pheochromocytoma, neuroblastoma				B,U
  CD2	T-ALL, lymphoma			T
  CD3	T-ALL, CLL, lymphoma			T	B
  CD4	Lymphoma			T
  CD5	CLL, lymphoma			T	B
  CD7	Lymphoma			T
  CD8	Lymphoma, bladder			T
  CD10	Lymphoma, ALL			T	B
  CD14 (MY4)	Leukemia/lymphoma			T	B,T
  CD15 (Leu M1)	Lymphoma/leukemia			T	B,T
  CD19 (BCL-6)	Lymphoma, B-ALL		T	T	B
  CD20 (CALLA)	B-ALL, CLL, lymphoma			T	B,T
  CD21	Lymphoma			T
  CD23	CLL, lymphoma			T	B
  CD30 (Ki-1)	Breast			T
  CD33	AML			T	B,T
  CD38	CLL			T	B
  CD45	Lymphoma (DLBL)			T
  CD52	Lymphoma			T
  CD56 (NCAM)	Merkel cell carcinoma (MCC), leukemia/lymphoma			T	B,T
  CD57	Leukemia/lymphoma			T
  CD64	Leukemia/lymphoma			T	B,T
  CD68 (KP1)	Glioma			T
  CD79A	B-ALL			T
  CD95 (APO-1/Fas)	ALL			T
  CD99	ALL, Ewing sarcoma, osteosarcoma			T	B
  CD117 (c-KIT1)	Gastrointestinal stromal tumor (GIST)1, leukemia/lymphoma, melanoma	T1		T1	B
  CD138 (Syndecon-1)	Lymphoma			T
  CD173 (H2)	Breast			T	B
  CD174 (FUT3)	Breast, colorectal, gastric, lung			T	B
  CDX2	Colorectal, ovarian, pancreatic, neuroendocrine (thyroid, parathyroid), gastrointestinal adenocarcinomas, lung, thyroid			T
  CDKN2A	Melanoma	B
  CEA (carcinoembryonic antigen) polyclonal/monoclonal	Colorectal, lung (including NSCLC), breast, ovarian, uterine; MTC, pancreatic1			T	B,F1
  CEACAM1 (17)	Pancreatic				B
  CEBPA	AML	B,T
  Chromogranin A	Neuroendocrine, neuroblastoma, small cell lung (SCLC)			T	B
  CHOP rearrangement	Liposarcoma		T
  CK 5,6	Mesothelioma			T
  CK 7	Colorectal, NSCLC			T
  CK 8,18 (CAM 5.2)	Carcinoid			T
  CK 19 fragment (CYFRA 21-1)	NSCLC, head and neck (squamous cell)				B
  CK 20	Bladder, colorectal, lung			T
  c-KIT (CD117)	Gastrointestinal stromal tumor (GIST)1, leukemia/lymphoma, melanoma	T1		T1	B
  Cyclin D1, SP4 t(11;14)	Lymphoma, CLL		T	T
  Cytokeratin (CK) [pan cytokeratin AE1,3]	Neuroendocrine			T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - D

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  DCP (des-gamma-carboxy prothrombin)	HCC				B
  DEK-NUP214 t(6;9)(p23;q34)	AML				B
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - E

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  E2A-PBX1 t(1;19)(q23;p13.3) (TCF3-PBX1)	B-ALL	B,T	T
  EBV-LMP1	Burkitt lymphoma, lymphoma/leukemia, head and neck			T
  EBV-EBER	Lymphoma			T
  E-Cadherin	Gastric (familial)			T
  EGFR	Lung, head and neck, colorectal, brain		T	T
  EML4-ALK	NSCLC				T
  Estrogen, progesterone receptors	Breast			T
  ETV6-RUNX1 (TEL-AML1) t(12;21)(p13;q22)	ALL, sarcomas		T
  ETV6-NTRK3 t(12;15)(p13;q25)	Breast cancer	B	B
  EWSR-E1AF t(2;22)(q33;12) EWR1S-ERG t(21;22)(q22;q12) EWS-ETV1 t(7;22)(p22;q12) EWS-ETV4 t(12;22)(q21;q12) EWS-FLI-1 t(11;22)(q24;q12)	Ewing sarcoma	T	T	T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - F

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  FLT3	AML	B,T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - G

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  Gastrin	Gastrinoma, carcinoid			T	B
  Glucagon	Glucagonoma			T	B
  Growth hormone	Neuroendocrine			T	B
  GHRH (growth hormone releasing hormone)	Neuroendocrine (pituitary)				B
  Granzyme B	Lymphoma			T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - H

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  βhCG	Trophoblastic, germ cell, lung, melanoma, gastrointestinal, ovarian			T	B
  Hercept/HER2 HER2/neu	Breast	T	T	T	B
  KSHV (HHV8)	Kaposi sarcoma	T		T
  HBME-1 (mesothelial cell)	Mesothelioma			T
  HMB45 (gp100)	Melanoma, ovarian	T		T
  HE4	Ovarian				B
  Helicobacter pylori	Gastric (risk factor)			T
  HPV (hybrid capture on cervical brush1; ISH on tissue2)	Endocervical, head and neck	T1			T2
  HRPT2	Parathyroid, primary hyperparathyroidism			T	B
  HTLV	Lymphoma			T
  HVA	Neuroblastoma				U
  Hyperdiploidy (+4, +10, +17)	ALL		T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - I

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  IGF-1	Neuroendocrine				B
  IGH/BCL2	Lymphoma (follicular cell)		B,T
  IGH-CCND1	Lymphoma (mantle cell), multiple myeloma	B	B,T
  IGH rearrangement	ALL		T
  IL3/IGH t(5;14)(q31;q32)	B-ALL	B,T	T
  ImmunoCyt™/uCyt+™	Bladder				U
  Insulin	Insulinoma			T	B
  inv(3), t(3;3) EVI1	Leukemia	B,T	T
  inv(16) or t(16;16) CBFβ/MYH11	AML	B,T	T
  IGH/myc CEPA t(8;14)	Burkitt lymphoma		T
  IGVH mutation	CLL	B,T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - J

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  JAK2	Myeloproliferative neoplasms	B,T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - K

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  KIT (D816V)	GIST, testicular, melanoma1	B,T,F1			B
  Ki-67 (MIB-1)	Prostate, breast, neuroendocrine, bladder, brain, lymphoma			T
  KRAS mutation detection	Colorectal, breast, pancreatic	T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - L

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  LH/FSH	Neuroendocrine (pituitary)			T	B
  LD	Germ cell, skin				B
  LKB1/STK11	Colorectal	B
  LSA (lipid-associated sialic acid)	Breast, gastrointestinal, lung, leukemia, lymphoma, melanoma, ovarian				B
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - M

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  MDM2	Liposarcoma, glioma		T
  Melan A	Melanoma			T
  MEN1, MEN2	Neuroendocrine, parathyroid	B
  Mesomark®	Mesothelioma				B
  Metanephrines	Pheochromocytoma				B,U
  Microsatellite instability (MSI)	Colorectal	B,T	B,T	T
  MLH1, MSH2, MSH6, PMS2	Colorectal, Lynch syndrome	B,T		T
  MLL-AF4 t(4;11)	Infant leukemia	B,T
  MLLT3-MLL t(9;11)	AML, ALL	B,T	T
  MPO (myeloperoxidase)	Breast			T
  Muc-1, Muc-2, Muc-4	Pancreatic, thyroid, biliary			T	B
  MUC-5AC glycoprotein	Pancreatic, cholangiocarcinoma, gastric			T
  MUM1/IRF4	B-cell lymphoma (DLBL)			T
  Myo D-1, myogenin, myoglobin, myosin	Rhabdomyosarcoma			T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - N

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  Neurofilament (68kDa)	Brain, lung			T
  NPM1	AML	B,T
  NMP22®	Bladder				U
  N-myc	Neuroblastoma		T
  NPM-ALK/NPM1 (p80)	Lymphoma (anaplastic large cell lymphoma)			T
  NRAS	Colorectal, Lynch syndrome, melanoma	T			T
  NSE	Neuroblastoma, SCLC, neuroendocrine			T	B
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - O

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  Oct-2	Lymphomas, breast			T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

  Tumor markers - P

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  PAM50	Breast	T
  p16 (INK4/CDKN2)	Bladder	B		T
  p21 (Cip1/Waf1)	Bladder			T
  p27 (Kip1)	Bladder, breast, colon, stomach, lung, pituitary			T
  p53	Breast (deletions occur across most cancers), bladder	B	T	T
  Pancreatic polypeptide	Neuroendocrine, carcinoid			T	B
  Philadelphia chromosome t(9;22)	AML, CML	B,T	T
  PTH (parathyroid hormone)	Neuroendocrine, parathyroid			T	B
  PTH-related peptide	Neuroendocrine, parathyroid				B
  PAX2	High grade tubo-ovarian serous carcinoma, renal cell carcinoma			T
  PAX3-FKHR t(2;13)(q35;q14) PAX7-FKHR t(1;13)(p36;q14)	Rhabdomyosarcoma	T
  PAX3-FOXO4 t(x;2)	Sarcoma		T
  PAX-5	Lymphoma, ALL		T	T
  PAX8-PPARγ1	Thyroid	B
  PCA3	Prostate				B,U
  PDGFRβ, PDGFRα rearrangements, FGFR1, CBFB	GIST, myeloproliferative neoplasms (MPN)		T	T
  PGP 9.5	Carcinoid, nerve-sheath tumor			T
  PIK3CA	Breast, brain, HCC, colon, ovarian, prostate, leukemia	T
  PLAP	Seminoma, germinoma, ovarian			T
  PML-RARα t(15;17)	AML (promyelocytic)		T
  PRCC/TFE3 t(X;1)(p11.2;q21)	Renal cell	B
  Proinsulin	Insulinoma			T	B
  Prolactin	Neuroendocrine (pituitary)			T	B
  PSA	Prostate			T	B
  PTEN	Colorectal	B
  PTH	Parathyroid				B
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - R

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  RB-1	Bladder			T
  RET (MEN2a1, MEN2b2)	Neuroendocrine1, parathyroid1, MTC2	B
  RUNX1-RUNX1T1 (AML-ETO)	AML, M2 subtype	B,T	T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - S

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  S-100, S-100B	Melanoma			T	B
  SCC Ag (squamous cell carcinoma antigen)	Head and neck, NSCLC				B
  SKp2	Breast			T
  SMAD4	Colorectal	B
  Serotonin	Carcinoid				B
  Somatostatin	Somatostatinoma			T	B
  Survivin	Bladder			T
  Synaptophysin	Neuroendocrine			T
  SYT-SSX1, STY-SSX2, SYT-SSX4	Synovial sarcoma	T	T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - T

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  TA90-IC	Melanoma			T	B
  t(15;17), t(8;21), t(16;16)	AML	B,T	T
  TCRA, TCRB	T-ALL	B		T
  TdT	ALL			T
  Thyroglobulin	Neuroendocrine (thyroid, parathyroid), thyroid (well-differentiated)		T	T	B,F
  TIA-1	Lymphoma			T
  TMPR SS2-EGR	Prostate	B
  TSH	Neuroendocrine (pituitary), thyroid			T	B
  TTF-1 (thyroid transcription factor)	Thyroid, mesothelioma, sarcoma, adenocarcinoma, neuroendocrine			T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - U

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  UGT1A1	Colorectal	B
  uPA/PAI-1	Breast			T
  UroVysion™ (bladder cancer, pancreatobiliary FISH)	Bladder1, pancreatic2		U1 T2
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - V

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  Villin	Adenocarcinoma (pancreatic, gastrointestinal)			T
  VIP	Vasoactive intestinal peptide tumor (VIPoma)			T	B
  VMA	Neuroblastoma				U
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - W

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  WT-1 (Wilms tumor 1)	Ewing sarcoma, myelodysplastic syndrome (MDS), leukemia, mesothelioma, sarcoma, adenocarcinoma			T
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

• Tumor markers - Z

  Marker	Malignancy	Methodology
  		Molecular	FISH	IHC Stain	Other
  ZAP-70	CLL			T	B
  B = blood (serum, plasma or whole), T = tissue (includes bone marrow), U = urine, F = fluid

Guidelines

• Demetri GD, von Mehren M, Antonescu CR, DeMatteo RP, Ganjoo KN, Maki RG, Pisters PW, Raut CP, Riedel RF, Schuetze S, Sundar HM, Trent JC, Wayne JD. NCCN Task Force report: update on the management of patients with gastrointestinal stromal tumors. J Natl Compr Canc Netw. 2010; 8 Suppl 2 :S1-41.PubMed
• Duffy MJ, Sturgeon C, Lamerz R, Haglund C, Holubec VL, Klapdor R, Nicolini A, Topolcan O, Heinemann V. Tumor markers in pancreatic cancer: a European Group on Tumor Markers (EGTM) status report. Ann Oncol. 2010; 21 (3) :441-447.PubMed
• Hammond ME, Hayes DF, Dowsett M, Allred DC, Hagerty KL, Badve S, Fitzgibbons PL, Francis G, Goldstein NS, Hayes M, Hicks DG, Lester S, Love R, Mangu PB, McShane L, Miller K, Osborne CK, Paik S, Perlmutter J, Rhodes A, Sasano H, Schwartz JN, Sweep FC, Taube S, Torlakovic EE, Valenstein P, Viale G, Visscher D, Wheeler T, Williams RB, Wittliff JL, Wolff AC. American Society of Clinical Oncology/College of American Pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer (unabridged version). Arch Pathol Lab Med. 2010; 134 (7) :e48-e72.PubMed
• National Academy of Clinical Biochemistry. [Accessed: 27 Apr 2009] 
• NCCN Clinical Practice Guidelines. National Comprehensive Cancer Network. Fort Washington: Pennsylvania [Accessed: 3 Feb 2011] 
• O'Toole D, Grossman A, Gross D, Delle Fave G, Barkmanova J, O'Connor J, Pape UF, Plockinger U. ENETS Consensus Guidelines for the Standards of Care in Neuroendocrine Tumors: biochemical markers. Neuroendocrinology. 2009; 90 (2) :194-202.PubMed
• Smith RA, Cokkinides V, Brooks D, Saslow D, Brawley OW. Cancer screening in the United States, 2010: a review of current American Cancer Society guidelines and issues in cancer screening. CA Cancer J Clin. 2010; 60 (2) :99-119.PubMed
• Wolf AM, Wender RC, Etzioni RB, Thompson IM, D'Amico AV, Volk RJ, Brooks DD, Dash C, Guessous I, Andrews K, DeSantis C, Smith RA. American Cancer Society guideline for the early detection of prostate cancer: update 2010. CA Cancer J Clin. 2010; 60 (2) :70-98.PubMed

General

• Bakhshi S, Radhakrishnan V. Prognostic markers in osteosarcoma. Expert Rev Anticancer Ther. 2010; 10 (2) :271-287.PubMed
• Dunbar E, Yachnis AT. Glioma diagnosis: immunohistochemistry and beyond. Adv Anat Pathol. 2010; 17 (3) :187-201.PubMed
• Dunn BK, Jegalian K, Greenwald P. Biomarkers for early detection and as surrogate endpoints in cancer prevention trials: issues and opportunities. Recent Results Cancer Res. 2011; 188 :21-47.PubMed
• Igbokwe A, Lopez-Terrada DH. Molecular testing of solid tumors. Arch Pathol Lab Med. 2011; 135 (1) :67-82.PubMed
• McGuire BB, Fitzpatrick JM. Biomarkers in renal cell carcinoma. Curr Opin Urol. 2009; 19 (5) :441-446.PubMed
• Mowatt G, Zhu S, Kilonzo M, Boachie C, Fraser C, Griffiths TR, N'Dow J, Nabi G, Cook J, Vale L. Systematic review of the clinical effectiveness and cost-effectiveness of photodynamic diagnosis and urine biomarkers (FISH, ImmunoCyt, NMP22) and cytology for the detection and follow-up of bladder cancer. Health Technol Assess. 2010; 14 (4) :1-iv.PubMed
• Na YJ, Farley J, Zeh A, del Carmen M, Penson R, Birrer MJ. Ovarian cancer: markers of response. Int J Gynecol Cancer. 2009; 19 Suppl 2 :S21-S29.PubMed
• Netto GJ, Epstein JI. Theranostic and prognostic biomarkers: genomic applications in urological malignancies. Pathology. 2010; 42 (4) :384-394.PubMed
• Nikiforova MN, Nikiforov YE. Molecular diagnostics and predictors in thyroid cancer. Thyroid. 2009; 19 (12) :1351-1361.PubMed
• Ringel MD. Molecular markers of aggressiveness of thyroid cancer. Curr Opin Endocrinol Diabetes Obes. 2009; 16 (5) :361-366.PubMed
• Rodriguez H, Tezak Z, Mesri M, Carr SA, Liebler DC, Fisher SJ, Tempst P, Hiltke T, Kessler LG, Kinsinger CR, Philip R, Ransohoff DF, Skates SJ, Regnier FE, Anderson NL, Mansfield E. Analytical validation of protein-based multiplex assays: a workshop report by the NCI-FDA interagency oncology task force on molecular diagnostics. Clin Chem. 2010; 56 (2) :237-243.PubMed
• Tzankov A, Zlobec I, Went P, Robl H, Hoeller S, Dirnhofer S. Prognostic immunophenotypic biomarker studies in diffuse large B cell lymphoma with special emphasis on rational determination of cut-off scores. Leuk Lymphoma. 2010; 51 (2) :199-212.PubMed

ARUP Institute for Clinical and Experimental Pathology®

• Bahler DW, Szankasi P, Kulkarni S, Tubbs RR, Cook JR, Swerdlow SH. Use of similar immunoglobulin VH gene segments by MALT lymphomas of the ocular adnexa. Mod Pathol. 2009; 22 (6) :833-838.PubMed
• Chernock RD, Perry A, Pfeifer JD, Holden JA, Lewis JS Jr. Receptor tyrosine kinases in sinonasal undifferentiated carcinomas--evaluation for EGFR, c-KIT, and HER2/neu expression. Head Neck. 2009; 31 (7) :919-927.PubMed
• Lim MS, Carlson ML, Crockett DK, Fillmore GC, Abbott DR, Elenitoba-Johnson OF, Tripp SR, Rassidakis GZ, Medeiros LJ, Szankasi P, Elenitoba-Johnson KS. The proteomic signature of NPM/ALK reveals deregulation of multiple cellular pathways. Blood. 2009; 114 (8) :1585-1595.PubMed
• Margraf RL, Calderon FR, Mao R, Wittwer CT. RET mutation scanning update: exon 15. Clin Chem. 2009; 55 (11) :2059-2061.PubMed
• Parker JS, Mullins M, Cheang MC, Leung S, Voduc D, Vickery T, Davies S, Fauron C, He X, Hu Z, Quackenbush JF, Stijleman IJ, Palazzo J, Marron JS, Nobel AB, Mardis E, Nielsen TO, Ellis MJ, Perou CM, Bernard PS. Supervised risk predictor of breast cancer based on intrinsic subtypes. J Clin Oncol. 2009; 27 (8) :1160-1167.PubMed
• Poirel HA, Cairo MS, Heerema NA, Swansbury J, Auperin A, Launay E, Sanger WG, Talley P, Perkins SL, Raphael M, McCarthy K, Sposto R, Gerrard M, Bernheim A, Patte C. Specific cytogenetic abnormalities are associated with a significantly inferior outcome in children and adolescents with mature B-cell non-Hodgkin's lymphoma: results of the FAB/LMB 96 international study. Leukemia. 2009; 23 (2) :323-331.PubMed
• Slattery ML, Wolff RK, Herrick J, Caan BJ, Samowitz W. Tumor markers and rectal cancer: support for an inflammation-related pathway. Int J Cancer. 2009; 125 (7) :1698-1704.PubMed

Acute Lymphoblastic Leukemia
Acute Myeloid Leukemia
Bladder Cancer
Breast Cancer
Carcinoid Tumors
Central Nervous System Tumors
Cervical Cancer
Chronic Lymphocytic Leukemia
Chronic Myelogenous Leukemia
Colorectal Cancer
Ewing Sarcoma
Glucagonoma
Hepatocellular Carcinoma
Human Papillomavirus
Insulinoma
Lung Cancer
Lymphoma Phenotyping
Lymphomas, B-Cell
Lymphomas, T/NK-Cell
Lynch Syndrome
Melanoma
Mesothelioma
Multiple Endocrine Neoplasias
Myeloproliferative Neoplasms
Neuroblastoma
Neuropathic Disease
Ovarian Cancer
Pancreatic Cancer
Pancreatic Neuroendocrine Tumors
Paraneoplastic Neurological Syndromes
Pheochromocytoma
Plasma Cell Dyscrasias
Prostate Cancer
Sarcoma
Sézary Syndrome
Somatostatinoma
Testicular Cancer
Thyroid Cancer
Vasoactive Intestinal Polypeptide Secreting Tumor
Zollinger-Ellison Syndrome