Other Hereditary Syndromes

At Beaumont, we are able to evaluate and counsel patients with less common hereditary predisposition syndromes. If you have a personal and/or family history of any of the following syndromes, you may be a candidate for genetic counseling. For an appointment, call 248-551-3388.

Below are descriptions and criteria of all the other syndromes we see patients and screen for cancer susceptibility at Beaumont.

Syndrome and Gene

Familial Melanoma (p16 or CDKN2A gene)

• personal history of multiple cutaneous melanoma
• 2 or more closely related family members with melanoma
• pancreatic cancer
• personal & family history of melanoma and multiple atypical moles

Li-Fraumeni Syndrome (p53 gene)

• associated with soft-tissue sarcomas (usually diagnosed prior to 45 year old), breast cancer, leukemia, osteosarcoma, melanoma, and cancer of the colon, pancreas, adrenal cortex and brain
• increased risk of multiple primary cancers in the same individual

Cowden Syndrome (PTEN gene)

• a multiple hamartoma syndrome with a high risk of benign and malignant tumors of the thyroid, breast and endometrium
• primary trichilemmomas and papillomatous papules, as well as acral and plantar keratose
•  macrocephaly (head size greater than or equal to 97th percentile)

Hereditary Diffuse Gastric Cancer(CDH1 or E-Cadherin gene)

• 2 or more cases of diffuse gastric (stomach) cancer in 1st or 2nd degree relatives
• at least one diagnosed prior to age 50 years)

OR

• 3 or more cases of diffuse gastric cancers in 1st or 2nd degree relatives at any age
• other cancers reported in HDGC families include colon cancer and lobular breast cancer

Von Hippel-Lindau (VHL gene)

• hemangioblastomas of the brain, spinal cord, retina (retinal hemamgioblastomas may be the initial manifestatoin and can cause vision loss
• renal cysts & clear cell renal cell carcinoma (40% of patients)
• pheochromocytomas (can by asymptomatic, but may cause sustained or episodic hypertension)
• endolymphatic sac tumors (can cause hearing loss of varying severity)

Peutz-Jeghers Syndrome (PJS) (STK11 or LKB1 gene)

• characterized by the association of gastrointestinal polyposis (hamartomatous polyps) and mucocutaneous pigmentation
• hyperpigmentation of the digits and mucosa of the exteral genitalia
• small bowel polyposis
• breast cancer
• pancreatic cancer

Juvenile Polyposis Syndrome (JPS) (BMPR1A, SMAD4 genes)

• Juvenile Polyposis Syndrome (JPS) is diagnosed if any one of the following is present:
• more than five juvenile polyps of the rectum

OR

• multiple juvenile polyps throughout the GI tract

OR

• any number of juvenile polyps and a family history of juvenile polyps
• The term "juvenile" refers to the pathologic type of polyp, not the age of onset of polyps

Familial Retinoblastoma (RB1 gene)

• retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before the age of 5 years
• may be unilateral or bilateral, with bilateral tumors tending to be hereditary rather than sporadic
• mutations in the RB1 gene predispose individuals to the disease and an increased risk of developing other retinoblastoma-related tumors (non-ocular)
• other cancers may be osteosarcoma, sarcoma, malignant melanoma, brain tumors, breast cancer or leukemia

Familial Pancreatic cancer

5 to 10% of all pancreatic cancer cases are familial and are associated with a variety of hereditary cancer syndromes. These include:

• Peutz-Jeghers syndrome
• Hereditary pancreatitis
• Familial pancreatic cancer syndrome 
• FAMMM syndrome (familial atypic multiple mole melanoma) (p16)
• Hereditary breast-ovarian cancer syndrome (BRCA1, 2)
• Familial adenomatous polyposis (FAP)
• Lynch syndrome (HNPCC)
• Ataxia telangiectasia (ATM)   

There are several other hereditary cancer syndromes which occur infrequently. A detailed personal and family history will help us determine what test(s) are recommended for you.