NUT midline carcinoma
Encyclopedia
NUT midline carcinoma, abbreviated NMC, is a rare epithelial
cancer
that usually arises in the midline of the body and is characterized by a mutation
in the nuclear protein in testis (NUT) gene.
and fatigue
.
NUT midline carcinomas are not specific to any tissue type or organ.
Common sites include the head
, neck
and mediastinum
.
The differential diagnosis
includes carcinoma ex pleomorphic adenoma and undifferentiated carcinoma.
The defining feature of NMCs is rearrangement of the NUT gene.
Most common is a translocation involving the BRD4
gene and NUT gene (t(15;19)(q13;p13.1)).
Epithelium
Epithelium is one of the four basic types of animal tissue, along with connective tissue, muscle tissue and nervous tissue. Epithelial tissues line the cavities and surfaces of structures throughout the body, and also form many glands. Functions of epithelial cells include secretion, selective...
cancer
Cancer
Cancer , known medically as a malignant neoplasm, is a large group of different diseases, all involving unregulated cell growth. In cancer, cells divide and grow uncontrollably, forming malignant tumors, and invade nearby parts of the body. The cancer may also spread to more distant parts of the...
that usually arises in the midline of the body and is characterized by a mutation
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
in the nuclear protein in testis (NUT) gene.
Symptoms
The symptoms are similar to other forms of cancer and dependent on the stage. Symptoms may include weight lossWeight loss
Weight loss, in the context of medicine, health or physical fitness, is a reduction of the total body mass, due to a mean loss of fluid, body fat or adipose tissue and/or lean mass, namely bone mineral deposits, muscle, tendon and other connective tissue...
and fatigue
Fatigue
Fatigue may refer to:*Fatigue , structural damage from repeated loading*Fatigue , a state of physical and/or mental weakness*Fatigue , safety implications of tiredness...
.
NUT midline carcinomas are not specific to any tissue type or organ.
Common sites include the head
Head
In anatomy, the head of an animal is the rostral part that usually comprises the brain, eyes, ears, nose and mouth . Some very simple animals may not have a head, but many bilaterally symmetric forms do....
, neck
Neck
The neck is the part of the body, on many terrestrial or secondarily aquatic vertebrates, that distinguishes the head from the torso or trunk. The adjective signifying "of the neck" is cervical .-Boner anatomy: The cervical spine:The cervical portion of the human spine comprises seven boney...
and mediastinum
Mediastinum
The mediastinum is a non-delineated group of structures in the thorax, surrounded by loose connective tissue. It is the central compartment of the thoracic cavity...
.
Pathology
NMC morphologically are poorly differentiated carcinoma with islands of well-differentiated squamous epithelium.The differential diagnosis
Differential diagnosis
A differential diagnosis is a systematic diagnostic method used to identify the presence of an entity where multiple alternatives are possible , and may also refer to any of the included candidate alternatives A differential diagnosis (sometimes abbreviated DDx, ddx, DD, D/Dx, or ΔΔ) is a...
includes carcinoma ex pleomorphic adenoma and undifferentiated carcinoma.
The defining feature of NMCs is rearrangement of the NUT gene.
Most common is a translocation involving the BRD4
BRD4
Bromodomain-containing protein 4 is a protein that in humans is encoded by the BRD4 gene.-Interactions:BRD4 has been shown to interact with RFC2, RFC3, RFC1, RFC4 and RFC5.-Structures:...
gene and NUT gene (t(15;19)(q13;p13.1)).