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ALK, L1196M (c.4493C>A)

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Expand Collapse No disease selected  - General Description
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Expand Collapse ALK  - General Description ALK is a gene that provides the code for making a protein called anaplastic lymphoma kinase. This protein belongs to a family of proteins on the cell surface known as receptor tyrosine kinases (RTKs). RTKs are the first link in a chain that sends signals from the outside of a cell to the parts inside the cell that control different cellular processes, such as cell growth, cell division and cell differentiation. Anaplastic lymphoma kinase is believed to play a key role in brain development and helps regulate the proliferation of nerve cells during early stages of development. In cancer, either due to mutation or rearrangements in the ALK gene, its activity is continuously switched on, which in turn drives the cancer process. At least 16 mutations in the ALK gene have been found in some patients with neuroblastoma, a cancer that develops in the immature nerve cells (neuroblasts) during childhood. In most cases, each mutation alters the structure of the ALK protein in different ways. These mutations result in the signaling pathway being switched on, increasing the proliferation of immature nerve cells and leading to neuroblastoma. Some of these mutations are called somatic because they are acquired during the course of a person's life and are found only in cells that become cancerous (not inherited from a parent). In some people with neuroblastoma, extra copies (gene amplification) of ALK cause too much protein to be made. Rearrangements in the ALK gene also serve as an important driver of tumor growth. These rearrangements result in the production of a recombinant protein that is comprised of the front end of one protein fused together with the tyrosine kinase domain of ALK. The fusion partner can be any one of a number of genes, depending on the malignancy. For instance, in approximately 70 to 80% of ALK-positive anaplastic large cell lymphomas (ALCL), ALK is paired with the Nucleophosmin (NPM) gene. In lung cancer, ALK's translocation partner is primarily the EML4 gene. ALK rearrangements have also been described in other tumors including inflammatory myofibroblastic tumors, neural tumors, rhabdomyosarcomas and in some subtypes of breast cancer. Another type of rearrangement, an inversion, is found in a few people with non-small cell lung cancer (NSCLC), the most common type of lung cancer. Source: Genetics Home ReferenceALK is a gene that provides the code for making a protein called anaplastic lymphoma kinase. This protein belongs to a family of proteins on the cell surface known as receptor tyrosine kinases (RTKs). RTKs are the first link in a chain that sends signals from the outside of a cell to the parts inside the cell that control different cellular processes, such as cell growth, cell division and cell differentiation. Anaplastic lymphoma kinase is believed to play a key role in brain development and helps regulate the proliferation of nerve cells during early stages of development. In cancer, either due to mutation or rearrangements in the ALK gene, its activity is continuously switched on, which in turn drives the cancer process. At least 16 mutations in the ALK gene have been found in some patients with neuroblastoma, a cancer that develops in the immature nerve cells (neuroblasts) during childhood. In most cases, each mutation alters the structure of the ALK protein in different ways. These mutations result in the signaling pathway being switched on, increasing the proliferation of immature nerve cells and leading to neuroblastoma. Some of these mutations are inherited and some are called somatic because they are acquired during the course of a person's life and are found only in cells that become cancerous (not inherited from a parent). In some people with neuroblastoma, extra copies (gene amplification) of ALK cause too much protein to be made. Rearrangements in the ALK gene also serve as an important driver of tumor growth. These rearrangements result in the production of a recombinant protein that is comprised of the front end of one protein fused together with the tyrosine kinase domain of ALK. The fusion partner can be any one of a number of genes, depending on the malignancy. For instance, in approximately 70 to 80% of ALK-positive anaplastic large cell lymphomas (ALCL), ALK is paired with the Nucleophosmin (NPM) gene. In lung cancer, ALK's translocation partner is primarily the EML4 gene. ALK rearrangements have also been described in other tumors including inflammatory myofibroblastic tumors, neural tumors, rhabdomyosarcomas and in some subtypes of breast cancer. Another type of rearrangement, an inversion, is found in a few people with non-small cell lung cancer (NSCLC), the most common type of lung cancer. Source: Genetics Home Reference
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ALK is a gene that provides the code for making a protein called anaplastic lymphoma kinase. This protein belongs to a family of proteins on the cell surface known as receptor tyrosine kinases (RTKs). RTKs are the first link in a chain that sends signals from the outside of a cell to the parts inside the cell that control different cellular processes, such as cell growth, cell division and cell differentiation. Anaplastic lymphoma kinase is believed to play a key role in brain development and helps regulate the proliferation of nerve cells during early stages of development. In cancer, either due to mutation or rearrangements in the ALK gene, its activity is continuously switched on, which in turn drives the cancer process.

At least 16 mutations in the ALK gene have been found in some patients with neuroblastoma, a cancer that develops in the immature nerve cells (neuroblasts) during childhood. In most cases, each mutation alters the structure of the ALK protein in different ways. These mutations result in the signaling pathway being switched on, increasing the proliferation of immature nerve cells and leading to neuroblastoma. Some of these mutations are called somatic because they are acquired during the course of a person's life and are found only in cells that become cancerous (not inherited from a parent). In some people with neuroblastoma, extra copies (gene amplification) of ALK cause too much protein to be made.

Rearrangements in the ALK gene also serve as an important driver of tumor growth. These rearrangements result in the production of a recombinant protein that is comprised of the front end of one protein fused together with the tyrosine kinase domain of ALK. The fusion partner can be any one of a number of genes, depending on the malignancy. For instance, in approximately 70 to 80% of ALK-positive anaplastic large cell lymphomas (ALCL), ALK is paired with the Nucleophosmin (NPM) gene. In lung cancer, ALK's translocation partner is primarily the EML4 gene. ALK rearrangements have also been described in other tumors including inflammatory myofibroblastic tumors, neural tumors, rhabdomyosarcomas and in some subtypes of breast cancer. Another type of rearrangement, an inversion, is found in a few people with non-small cell lung cancer (NSCLC), the most common type of lung cancer.

Source: Genetics Home Reference
ALK is a gene that provides the code for making a protein called anaplastic lymphoma kinase. This protein belongs to a family of proteins on the cell surface known as receptor tyrosine kinases (RTKs). RTKs are the first link in a chain that sends signals from the outside of a cell to the parts inside the cell that control different cellular processes, such as cell growth, cell division and cell differentiation. Anaplastic lymphoma kinase is believed to play a key role in brain development and helps regulate the proliferation of nerve cells during early stages of development. In cancer, either due to mutation or rearrangements in the ALK gene, its activity is continuously switched on, which in turn drives the cancer process.

At least 16 mutations in the ALK gene have been found in some patients with neuroblastoma, a cancer that develops in the immature nerve cells (neuroblasts) during childhood. In most cases, each mutation alters the structure of the ALK protein in different ways. These mutations result in the signaling pathway being switched on, increasing the proliferation of immature nerve cells and leading to neuroblastoma. Some of these mutations are inherited and some are called somatic because they are acquired during the course of a person's life and are found only in cells that become cancerous (not inherited from a parent). In some people with neuroblastoma, extra copies (gene amplification) of ALK cause too much protein to be made.

Rearrangements in the ALK gene also serve as an important driver of tumor growth. These rearrangements result in the production of a recombinant protein that is comprised of the front end of one protein fused together with the tyrosine kinase domain of ALK. The fusion partner can be any one of a number of genes, depending on the malignancy. For instance, in approximately 70 to 80% of ALK-positive anaplastic large cell lymphomas (ALCL), ALK is paired with the Nucleophosmin (NPM) gene. In lung cancer, ALK's translocation partner is primarily the EML4 gene. ALK rearrangements have also been described in other tumors including inflammatory myofibroblastic tumors, neural tumors, rhabdomyosarcomas and in some subtypes of breast cancer. Another type of rearrangement, an inversion, is found in a few people with non-small cell lung cancer (NSCLC), the most common type of lung cancer.

Source: Genetics Home Reference
Expand Collapse L1196M (c.4493C>A)  in ALK
The ALK L1196M mutation indicates a fusion between the EML4 (echinoderm microtubule-associated protein-like 4) and ALK (anaplastic lymphoma kinase) genes, which produces an oncogenic fusion-type tyrosine kinase.
The ALK L1196M mutation indicates a fusion between the EML4 (echinoderm microtubule-associated protein-like 4) and ALK (anaplastic lymphoma kinase) genes, which produces an oncogenic fusion-type tyrosine kinase.

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Your Matched Clinical Trials

Trial Matches: (G) - Gene, (M) - Mutation
Trial Status: Showing all 9 results Per Page:
Protocol # Title Location Status Match
NCT00585195 A Study Of Oral PF-02341066, A c-Met/Hepatocyte Growth Factor Tyrosine Kinase Inhibitor, In Patients With Advanced Cancer A Study Of Oral PF-02341066, A c-Met/Hepatocyte Growth Factor Tyrosine Kinase Inhibitor, In Patients With Advanced Cancer MGH Open GM
NCT02193282 Erlotinib Hydrochloride in Treating Patients With Stage IB-IIIA Non-small Cell Lung Cancer That Has Been Completely Removed by Surgery (An ALCHEMIST Treatment Trial) Erlotinib Hydrochloride in Treating Patients With Stage IB-IIIA Non-small Cell Lung Cancer That Has Been Completely Removed by Surgery (An ALCHEMIST Treatment Trial) MGH Open GM
NCT02097810 Study of Oral RXDX-101 in Adult Patients With Locally Advanced or Metastatic Cancer Targeting NTRK1, NTRK2, NTRK3, ROS1, or ALK Molecular Alterations. Study of Oral RXDX-101 in Adult Patients With Locally Advanced or Metastatic Cancer Targeting NTRK1, NTRK2, NTRK3, ROS1, or ALK Molecular Alterations. MGH Open GM
NCT02927340 A Study of Lorlatinib in Advanced ALK and ROS1 Rearranged Lung Cancer With CNS Metastasis in the Absence of Measurable Extracranial Lesions A Study of Lorlatinib in Advanced ALK and ROS1 Rearranged Lung Cancer With CNS Metastasis in the Absence of Measurable Extracranial Lesions MGH Open G
NCT02568267 Basket Study of Entrectinib (RXDX-101) for the Treatment of Patients With Solid Tumors Harboring NTRK 1/2/3 (Trk A/B/C), ROS1, or ALK Gene Rearrangements (Fusions) Basket Study of Entrectinib (RXDX-101) for the Treatment of Patients With Solid Tumors Harboring NTRK 1/2/3 (Trk A/B/C), ROS1, or ALK Gene Rearrangements (Fusions) MGH Open G
NCT02201992 Crizotinib in Treating Patients With Stage IB-IIIA Non-small Cell Lung Cancer That Has Been Removed by Surgery and ALK Fusion Mutations (An ALCHEMIST Treatment Trial) Crizotinib in Treating Patients With Stage IB-IIIA Non-small Cell Lung Cancer That Has Been Removed by Surgery and ALK Fusion Mutations (An ALCHEMIST Treatment Trial) MGH Open G
NCT02521051 Phase I/II Trial of Alectinib and Bevacizumab in Patients With Advanced, Anaplastic Lymphoma Kinase (ALK)-Positive, Non-Small Cell Lung Cancer Phase I/II Trial of Alectinib and Bevacizumab in Patients With Advanced, Anaplastic Lymphoma Kinase (ALK)-Positive, Non-Small Cell Lung Cancer MGH Open G
NCT02393625 Study of Safety and Efficacy of Ceritinib in Combination With Nivolumab in Patients With ALK-positive Non-small Cell Lung Cancer Study of Safety and Efficacy of Ceritinib in Combination With Nivolumab in Patients With ALK-positive Non-small Cell Lung Cancer MGH Open G
NCT02584634 Study to Evaluate Safety, Efficacy, Pharmacokinetics And Pharmacodynamics Of Avelumab In Combination With Either Crizotinib Or PF-06463922 In Patients With NSCLC. (Javelin Lung 101) Study to Evaluate Safety, Efficacy, Pharmacokinetics And Pharmacodynamics Of Avelumab In Combination With Either Crizotinib Or PF-06463922 In Patients With NSCLC. (Javelin Lung 101) MGH Open G
MGH has many open clinical trials for other cancers not shown on the Targeted Cancer Care website. They can be found on the MassGeneral.org clinical trials search page.

Additional clinical trials may be applicable to your search criteria, but they may not be available at MGH. These clinical trials can typically be found by searching the clinicaltrials.gov website.
Trial Status: Showing all 9 results Per Page:

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