Rhabdoid tumor predisposition syndrome (RTPS) is characterised by a excessive threat of creating cancerous (malignant) growths known as rhabdoid tumors. These extremely aggressive tumors are known as rhabdoid as a result of their cells resemble rhabdomyoblasts, that are cells which can be usually present in embryos earlier than delivery and turn into muscle groups used for motion (skeletal muscle groups).
Rhabdoid tumors are uncommon within the basic inhabitants. They often happen within the first yr of life, and are a lot much less prone to seem after age four. In individuals with RTPS, the tumors happen at a median age of four to 7 months, and may even happen earlier than delivery. Affected people might have multifocal synchronous tumors, which signifies that a number of tumors that develop independently (major tumors) happen on the identical time. The rhabdoid tumors that happen in RTPS often develop and unfold extra shortly than these in youngsters with out this predisposition, and affected people typically don’t survive previous childhood.
Greater than half of all malignant rhabdoid tumors (MRTs) develop in , which is the a part of the mind that coordinates motion. Rhabdoid tumors within the mind and spinal wire (central nervous system) are known as atypical teratoid/rhabdoid tumors (AT/RTs).
Rhabdoid tumors additionally happen outdoors the central nervous system. These tumors embody rhabdoid tumors of the (RTKs) and tumors that develop in different organs and tissues of the physique (known as extrarenal malignant rhabdoid tumors or eMRTs). The kind of rhabdoid tumor can fluctuate amongst people with RTPS, even inside the identical household.
Tumors apart from rhabdoid tumors can even happen in individuals with RTPS. Some affected youngsters develop noncancerous (benign) tumors known as schwannomas, which develop on nerves. Girls with RTPS are at elevated threat of creating a uncommon kind of ovarian most cancers known as small cell most cancers of the ovary hypercalcemic kind (SCCOHT).