Overview:

ALK or CD246 is a receptor tyrosine kinase, which belongs to the insulin receptor superfamily which comprises an extracellular domain, a hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. CD246 plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. ALK-positive neoplasms represent a distinct entity because the morphology of the tumors is often neither anaplastic nor large cell and the tumors should be referred to as ALK lymphomas (1). CD246 has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. EML4-ALK mutations in lung cancer confer resistance to ALK inhibitors (2).

Gene Aliases:

EML4: C2orf2, EMAPL4
ALK: ALK (Ki-1), CD246

Genbank Number:

NM_019063
NM_004304

References:

1. Benharroch, D. et.al: ALK-positive lymphoma: a single disease with a broad spectrum of morphology. Blood 91: 2076-2084, 1998.

2. Choi, Y. L. et.al: EML4-ALK mutations in lung cancer that confer resistance to ALK inhibitors. New Eng. J. Med. 363: 1734-1739, 2010.