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Further information
There are a number of conditions that need to be monitored carefully for cancer involvement. These include:
Ataxia-Telangiectasia
The main cancers likely in Ataxia Telangiectasia are leukaemia and Iymphoma but there is also a higher risk of solid tumours including brain tumours. Treatment needs to take into account an extreme sensitivity to radiotherapy and chemotherapy.
Beckwith-Wiedemann syndrome
The two most common tumours associated with this syndrome are: Wilms tumour and hepatoblastoma (tumour of the liver), the former being the more likely (five to seven per cent). Regular abdominal/pelvic ultra sound screening should take place.
Brain Tumours
These can be benign, causing damage by pressing on the brain, or malignant, growing and invading the brain.
Cowden disease
In Cowden disease there both non-cancerous tumour-like growths and an increased risk of a number of types of cancer including breast, thyroid and endometrial cancers.
Dancing Eye syndrome
In some cases of Dancing Eye syndrome the cause is an underlying cancer known as a neuroblastoma. This is often very small and may only be found by specific investigations for this type of tumour. If localised, the cancer can usually be successfully treated by surgery possibly with additional chemotherapy.
Down syndrome
In Down syndrome there is a leukaemia risk of about twenty-fold compared to the non-Down Syndrome population or one to two per cent by the age of ten years. It can be either Acute Lymphoblastic Leukaemia (ALL) or Acute Myeloid Leukaemia (AML) (see entry, Leukaemia). Infants can also develop transient myeloproliferative disorder (TMD), a condition which is similar to leukaemia but often self limiting or needing minimal treatment. Approximately twenty-five per cent of children with TMD will go on to develop clinically evident AML.
Gorlin syndrome
The main cancer risk is the development of multiple basal cell carcinomas. Regular screening for skin lesions is important. It is thought that there is a risk of developing medulloblastoma (a malignant tumor of the central nervous system arising in the cerebellum especially in children) and this is estimated as four to five per cent with a mean age at diagnosis of two and a half years. It has been suggested that screening with clinical examination and even yearly MRI up to the age of seven years should take place. The avoidance of radiotherapy is strongly recommended (although difficult) in treating this malignant brain tumour due to the high incidence (one hundred per cent) of skin cancer in the radiotherapy field.
Klinefelter syndrome
Increased risk of breast cancer has been reported.
Li-Fraumeni syndrome
The syndrome is a rare heritable condition which predisposes many members of a family to a wide range of cancers.
Neurofibromatosis
Development of tumours is a hallmark of Neurofibromatosis (NF). The name comes from the development of neurofibromas which are benign tumours arising in the skin or from the coverings of nerves (they can occur almost anywhere in the body). There are two main types of neurofibromatosis: NF1 which affects ninety per cent of cases and NF2.
In NF1 plexiform neurofibromas are more complex benign tumours that can be difficult to treat needing multiple resections. At present drug therapy is experimental and there is a malignant potential. Optic gliomas (benign brain tumour) occur in up to fifteen per cent of children and thirty to fifty per cent of all optic nerve gliomas occur in children with NF1. They can affect the child’s vision and therefore when a child is old enough regular visual tests are recommended. These benign tumours can spontaneously resolve or behave in a very indolent fashion with fifty per cent requiring no therapy. Chemotherapy or occasionally surgery can successfully treat these tumours. Gliomas can occur in other sites usually requiring surgery. Malignant Peripheral Nerve Sheath Tumours (MPNST’s), sarcomas (soft tissue tumour) and Acute Myeloid Leukaemia (AML) have all been reported to occur in excess of the normal population.
NF2 is associated with acoustic neuromas (these benign tumours affect the nerve supplying the middle ear and can lead to hearing loss and balance problems). Another benign tumour known as a meningioma (benign tumour arising from the lining of the brains surface) is also more common in patients with NF2. Both acoustic neuromas and meningiomas are treated with surgery or occasionally radiotherapy. Gliomas can occur in NF2 as can neurofibromas but despite the name the latter are uncommon in NF2.
Retinoblastoma
Retinoblastoma is a malignant tumour which develops at the back of the eye. It affects babies and young children and is very rare after the age of five years.
Shwachman syndrome
Malignant transformation and leukaemia are associated with Shwachman syndrome as well as myelodysplasia (abnormality of blood cell production).
Tuberous Sclerosis
In Tuberous Sclerosis (TS), cardiac rhabdomyomas (benign tumours made up of stripes of nerve fibres) normally develop in utero and can be detected by prenatal scans. Typically these regress during life.
Subependymal Giant Cell Astrocytoma (SEGA), are tumours that almost exclusively occur in patients with TS. These are benign, slow growing tumours arising in the wall of the lateral ventricle (chamber of the brain). There is an incidence of SEGA in approximately fifteen per cent of TS patients. The presence of these tumours often shows with a worsening of epilepsy; they may cause hydrocephalus which can be treated surgically.
Cortical tumours (tumours on the outer part of an organ), hamartomas (a tumour like mass representing anomalous development of tissue natural to a part or organ rather than a true tumor) of the eye and liver and kidney angiomyolipoma (benign tumour containing blood vessels, muscle tissue and fat cells) are also found in TS.
Turcot syndrome
A rare syndrome of brain and colon tumours.
Von Hippel-Lindau syndrome
The most common tumours associated with Von Hippel-Lindau syndrome are:
Wilms Tumour
A cancerous tumour of the kidney. See entries, Beckwith-Wiedemann syndrome and Aniridia .
Xeroderma Pigmentosum
A condition of varying pigmentary changes which can be come malignant.
Inheritance patterns and prenatal diagnosis
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