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 Rare Cancers

Retinoblastoma

Retinoblastoma is an unusual cancer which originates from the tissues inside the eye. About 20-40% of such cases are hereditary and may occur in both eyes.  This is an illness of children which starts inside the uterus and prior to birth, while the baby is in its development phase of life.  The genetic marker of this disease is aberration in the tumor suppressor RB gene.   When there is family history of this illness, prenatal diagnosis, using amniocentesis can diagnose the disease.

Von Hippel-Lindau Disease

This Disease is associated with angiomas (small dilated vessels that we all may have on our skin) and tumors of Kidneys, Scrotum, Liver, Pancreas and adrenal glands.  This disease is associated with a genetic marker which is aberration in the tumor suppressor VHL gene, located in chromosome 3.  This abnormality causes excessive growth of small vessels.  When there is family history of this illness, prenatal diagnosis, using amniocentesis can diagnose the disease.

Medullary Thyroid Cancer

This form of thyroid cancer can be associated with a variety of other tumors, as part of a multiple cancer syndrome. The genetic marker of this disease is aberration in the RET gene.  When there is family history of this illness, prenatal diagnosis, using amniocentesis can diagnose the disease.  Five to ten percent of all Thyroid cancers are of Medullary type. The hereditary type of this cancer is seen in about 20% of such patients as part of a complex disease syndrome called: Multiple Endocrine Neoplasm which has a few types of its own.  Inherited forms of this cancer occur at an earlier age with a poor overall survival.  These syndromes are associated with a mutant RET gene.

Li-Fraumeni syndrome

This is an autosomal dominant disease with very high risk for development of --Breast cancer--Osteosarcoma--Brian tumors--Acute Leukemia--Germ cell tumors--Adrenocortical cancers.  

Cancer Genetic issues