Associated Genetic Biomarkers

Overview

Gene Location [1]
2p23.2-p23.1
Pathways
Receptor tyrosine kinase/growth factor signaling, Kinase fusions
Gene
ALK

ALK Mutation is present in 2.52% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, cutaneous melanoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with ALK Mutation

Significance of ALK Mutation in Diseases

Non-Small Cell Lung Carcinoma +

Malignant Solid Tumor +

Diffuse Large B-Cell Lymphoma +

ALK-Positive Large B-Cell Lymphoma +

Transformed Non-Hodgkin Lymphoma +

Cancer +

Anaplastic Large Cell Lymphoma +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

High Grade B-Cell Lymphoma, Not Otherwise Specified +

T-Cell/Histiocyte-Rich Large B-Cell Lymphoma +

B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma +

Grade 3b Follicular Lymphoma +

Neuroblastoma +

Melanoma +

Pancreatic Carcinoma +

Diffuse Large B-Cell Lymphoma Associated With Chronic Inflammation +

Double-Hit Lymphoma +

EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

Intravascular Large B-Cell Lymphoma +

Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type +

Lung Carcinoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Esophageal Carcinoma +

Non-Hodgkin Lymphoma +

Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Follicular Lymphoma +

HHV8-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

High Grade B-Cell Lymphoma With MYC And BCL2 And/Or BCL6 Rearrangements +

Mantle Cell Lymphoma +

Mediastinal Large B-Cell Lymphoma +

Primary Mediastinal B-Cell Lymphoma +

Triple-Hit Lymphoma +

Malignant Uterine Neoplasm +

Mature B-Cell Non-Hodgkin Lymphoma +

Glioblastoma +

Hepatocellular Carcinoma +

Gastric Adenocarcinoma +

Malignant Central Nervous System Neoplasm +

Gastric Carcinoma +

Central Nervous System Neoplasm +

Ovarian Carcinoma +

Breast Carcinoma +

Cervical Carcinoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Malignant Salivary Gland Neoplasm +

Biliary Tract Carcinoma +

Pancreatic Adenocarcinoma +

Anaplastic Large Cell Lymphoma, ALK-Negative +

Anaplastic Large Cell Lymphoma, ALK-Positive +

Angioimmunoblastic T-Cell Lymphoma +

Bronchogenic Carcinoma +

Burkitt Lymphoma +

Central Nervous System Lymphoma +

Enteropathy-Associated T-Cell Lymphoma +

Esophageal Squamous Cell Carcinoma +

Extranodal Marginal Zone Lymphoma Of Mucosa-Associated Lymphoid Tissue +

Follicular T-Cell Lymphoma +

Gallbladder Carcinoma +

Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma +

Head And Neck Carcinoma +

Hepatosplenic T-Cell Lymphoma +

Hodgkin Lymphoma +

Indolent T-Cell Lymphoproliferative Disorder Of The Gastrointestinal Tract +

Large B-Cell Lymphoma With IRF4 Rearrangement +

Lymphoblastic Lymphoma +

Lymphomatoid Granulomatosis +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma +

Mycosis Fungoides +

Nasal Type Extranodal NK/T-Cell Lymphoma +

Nodal Marginal Zone Lymphoma +

Nodal Peripheral T-Cell Lymphoma With TFH Phenotype +

Peripheral T-Cell Lymphoma, Not Otherwise Specified +

Richter Syndrome +

Sezary Syndrome +

Small Intestinal Carcinoma +

Splenic Marginal Zone Lymphoma +

Subcutaneous Panniculitis-Like T-Cell Lymphoma +

Systemic EBV-Positive T-Cell Lymphoma Of Childhood +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.