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NUT midline carcinoma : ウィキペディア英語版 | NUT midline carcinoma
NUT midline carcinoma, abbreviated NMC, is a rare genetically defined, very aggressive epithelial cancer that usually arises in the midline of the body and is characterized by a chromosomal rearrangement in the nuclear protein in testis (NUT) gene. In approximately 75% of cases, the coding sequence of ''NUT'' on chromosome 15q14 is fused to ''BRD4'' or ''BRD3'', which creates a chimeric gene that encodes the ''BRD-NUT'' fusion protein. The remaining cases, the fusion of NUT is to an unknown partner gene, usually called ''NUT''-variant. ==Symptoms== In the United States, about 20-30 cases are reported each year. This may be a gross underestimate of the total number of cases as few laboratories have the reagents and expertise to make the diagnosis.〔http://www.nmcregistry.org/doctors_basics.html〕 The symptoms are similar to other forms of cancer and dependent on the stage. While generalized symptoms (weight loss and fatigue) may be seen, site specific symptoms are also present. If the tumor involves the head and neck region (in about 35%), then pain, a mass, obstructive symptoms, among others, may be experienced. NUT midline carcinomas are not specific to any tissue type or organ.〔 Common sites include the head, neck and mediastinum. The median age at diagnosis is 17 years, but older patients may be affected.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「NUT midline carcinoma」の詳細全文を読む
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