Download Cancer Syndromes Quick Reference

Cancer Syndromes Quick Reference
Included syndromes:

Cowden syndrome- breast, non-medullary thyroid, endometrial (Page 2)

Familial Adenomatous Polyposis (FAP)- polyposis of colon and duodenum, colon cancer (Page 3)

Familial Malignant Melanoma- melanoma and pancreatic cancer (Page 3)

Gorlin syndrome (Nevoid Basal Cell Carcinoma Syndrome)- basal cell, medulloblastoma (Page 4)

Hereditary Breast and Ovarian Cancer (HBOC)- breast, ovarian, pancreatic, prostate (Page 4)

Hereditary Diffuse Gastric Cancer (HDGC)- diffuse gastric, lobular breast (Page 5)

Hereditary Paraganglioma-Pheochromocytoma Syndromes- paraganglioma, pheochromocytoma (Page 5)

Juvenile Polyposis syndrome- juvenile polyps, colon cancer (Page 6)

Li-Fraumeni syndrome- sarcoma, breast, brain, adrenal cortical cancer, leukemia (Page 6)

Lynch syndrome (Hereditary Non-polyposis Colorectal Cancer)- colon, endometrial, ovarian (Page 7)

Multiple Endocrine Neoplasia, Type 1 (MEN1)- parathyroid, pituitary, pancreatic cancer (Page 8)

Multiple Endocrine Neoplasia, Type 2A and 2B (MEN2A, MEN2B)- medullary thyroid, parathyroid,
pheochromocytoma (Page 8)

MYH-Associated Polyposis (MAP)- polyposis of colon, colon cancer (Page 9)

Neurofibromatosis, Type 1 (NF1)- GIST, pheochromocytoma, breast, leukemia, optic glioma, malignant
peripheral nerve sheath tumors, benign skin findings (Page 9)

Neurofibromatosis, Type 2 (NF2)- schwannomas, meningiomas, ependymomas, astrocytomas (Page 10)

Peutz-Jeghers syndrome (PJS)- colon, gastric, pancreatic, breast, ovarian cancer, pigmentation (Page 10)

Von Hippel-Lindau syndrome (VHL)- hemangioblastoma, renal cancer, pheochromocytoma (Page 11)
***If your patient does not clearly fit in any one of the above cancer syndromes, still consider referral to the
Genetic Counseling Clinic if multiple generations are affected by the same cancer type or there is an
unusually high amount of cancer in the family. If genetic testing is not available, or there is not a particular
syndrome that comes to mind, there may be research studies available that aim to identify new hereditary
cancer syndromes.***
Melissa Gilstrap, MS, CGC
1 of 11
 Cowden syndrome
Mutations in PTEN predispose individuals to benign and malignant tumors of the breast, thyroid, and
endometrium. Cowden syndrome is considered a hamartoma tumor syndrome. Individuals with Cowden
syndrome typically have large head circumferences (macrocephaly), trichilemmomas, and papillomatous
papules.
Pathognomonic features:
o Adult Lhermitte-Duclos disease (LDD)- presence of a cerebellar dysplastic gangliocytoma
o Mucocutaneous lesions:
 Trichilemmomas
 Acral keratoses
 Papillomatous lesions
 Mucosal lesions
Major criteria:
o Breast cancer
o Epithelial thyroid cancer (non-medullary), especially follicular thyroid cancer
o Macrocephaly (OFC > 97th percentile)
o Endometrial cancer
Minor criteria:
o Other thyroid lesions (adenoma, multinodular goiter)
o Mental retardation
o Hamartomatous intestinal polyps
o Fibrocytic disease of the breast
o Lipomas
o Genitourinary tumors (especially renal cell carcinoma)
o Genitourinary malformation
o Uterine fibroids
Diagnostic criteria:
o Pathognomonic mucocutaneous lesions combined with one of the following:
 Six of more facial papules, of which three or more must be trichilemmoma
 Cutaneous facial papules and oral mucosal papillomatous
 Oral mucosal papillomatosis and acral keratoses
 Six or more palmo-plantar keratoses
o Two or more major criteria
o One major criteria and three or more minor criteria
o Four or more minor criteria
Inheritance: Autosomal Dominant
Incidence: 1 in 200,000 (likely underreported)
Melissa Gilstrap, MS, CGC
2 of 11
 Familial Adenomatous Polyposis (FAP)
Mutations in APC predispose individuals to colon cancer due to the development of 100s to 1,000s of
precancerous colon polyps. Polyps and cancer of the gastric fundus and duodenum are common findings as
well. Osteomas, thyroid cancer, dental anomalies, congenital hypertrophy of the retinal pigment epithelium
(CHRPE), soft tissue tumors, desmoid tumors, and other cancers can also occur. Individuals with APC
mutations can have variable severities of FAP: Classic FAP, Attenuated FAP, and Gardner syndrome.
Virtually all individuals with untreated FAP will develop colon cancer in their lifetime.
Classic FAP features:
o One hundred or more colorectal adenomatous polyps by age 16 (on average)
o Generally considered as a diagnosis for individuals with polyposis occurring before age 40
Attenuated FAP (AFAP) features:
o Ten to ninety-nine colonic adenomatous polyps by age 30 (on average)
 Individuals with over 100 polyps found at age 35-40 may be found to have AFAP instead of
Classic FAP
o A personal history of colorectal cancer before age 60 and a family history of multiple adenomatous
polyps
o Typically have mutations in the 3’ or 5’ ends of APC
Gardner syndrome features:
o Colonic adenomatous polyposis
o Osteomas
o Soft tissue tumors
 Epidermoid cysts
 Fibromas
 Desmoid tumors
Inheritance: Autosomal Dominant
Incidence: 1 in 6,000-13,000
 Familial Malignant Melanoma
Mutations in CDKN2A (p16) or CDK4 predispose individuals to cutaneous and ocular melanoma as well as
pancreatic cancer (in some families). Approximately 50% of hereditary melanoma families have mutations in
these two genes, meaning there are most likely additional undiscovered genes involved.
Suspect when there is a personal or close family history of:
o Two or more melanomas in an individual or family
o Melanoma or pancreatic cancer in an individual or family
o An individual with melanoma in a sun-protected area
Inheritance: Autosomal Dominant
Incidence: Unknown, 10% of melanoma diagnoses are thought to be hereditary
Melissa Gilstrap, MS, CGC
3 of 11
 Gorlin syndrome (Nevoid Basal Cell Carcinoma Syndrome):
Mutations in PTCH predispose individuals to basal cell carcinomas as well as cardiac and ovarian fibromas.
Multiple jaw keratocysts, large head size, bossing of the forehead, and coarse facial features are common. Five
percent of children with Gorlin syndrome develop medulloblastoma (primitive neuroectodermal tumor,
PNET).
Major criteria:
o Lamellar (sheet-like) calcification of the falx
o Jaw keratocyst
o Palmar/plantar pits
o Multiple basal cell carcinomas
o First degree relative with Gorlin syndrome
Minor criteria:
o Childhood medulloblastoma (primitive neuroectodermal tumor, PNET)
o Lympho-mesenteric or pleural cysts
o Macrocephaly (OFC > 97th percentile)
o Cleft lip/palate
o Vertebral/rib anomalies (bifid, splayed, extra ribs; bifid vertebrae)
o Preaxial or postaxial polydactyly
o Ovarian or cardiac fibromas
o Ocular anomalies (cataract, developmental defects, and pigmentary changes of the retina)
Diagnostic criteria:
o Two major criteria and one minor criterion OR One major criterion and three minor criteria
Inheritance: Autosomal Dominant
Incidence: 1 in 40,000 (20-30% are de novo mutations)
 Hereditary Breast and Ovarian Cancer (HBOC):
Mutations in BRCA1 or BRCA2 predispose individuals to breast and ovarian cancer. Other cancers, such as
prostate and pancreatic cancer, are seen in higher incidence as well. Both men and women can carry BRCA1 or
BRCA2 mutations. This means that both men and women in this cancer syndrome can be predisposed to
cancer and able to pass the mutation on to the next generation (i.e. breast cancer risk can come from the
father’s side of the family as well as the mother’s side of the family).
Suspect when there is a personal or close family history of:
o Breast cancer < age 50
o Ovarian cancer < age 60
o DCIS < age 40
o Male breast cancer
o Bilateral breast cancer or breast cancer that is ER, PR, AND HER-2/neu negative
o Breast cancer plus increased risk ancestry (San Luis Valley or northern New Mexico Latino, or
Ashkenazi Jewish)
o Multiple family members with breast and/or ovarian cancer at any age
Inheritance: Autosomal Dominant
Incidence: 1 in 500 in the general population, 1 in 40 in the Ashkenazi Jewish population (~5% of all breast
cancer diagnoses)
Melissa Gilstrap, MS, CGC
4 of 11
 Hereditary Diffuse Gastric Cancer (HDGC):
Mutations in CDH1 predispose individuals to diffuse gastric cancer and lobular breast cancer. Diffuse gastric
cancer is a poorly differentiated adenocarcinoma that infiltrates into the stomach wall causing thickening of
the wall without forming a distinct mass. It is also referred to as signet ring carcinoma or isolated cell type
carcinoma.
Suspect when there is a personal or close family history of:
o Two or more cases of gastric cancer, with at least one diffuse gastric cancer diagnosed before age 50
o Three or more cases of gastric cancer, diagnosed at any age, with at least one documented case of
diffuse gastric cancer
o An individual diagnosed with diffuse gastric cancer before age 45
 This criterion may be too inclusive. Lowering the cut-off age for individual cases of diffuse
gastric cancer, with no other suspicious history, to before age 40 may be warranted.
o An individual diagnosed with both diffuse gastric cancer and lobular breast cancer
o One family member diagnosed with diffuse gastric cancer and another with lobular breast cancer
o One family member diagnosed with diffuse gastric cancer and another with signet ring colon
cancer
Inheritance: Autosomal Dominant
Incidence: Unknown, likely to be higher in European populations
 Hereditary Paraganglioma-Pheochromocytoma syndromes:
Mutations in SDHD, SDHC, and SDHB predispose individuals to develop paragangliomas and
pheochromocytomas. Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic
paragangliomas are most often non-secretory. Pheochromocytomas, which arise in the adrenal medulla,
typically hypersecrete catecholamines. The increase in catecholamines can lead to elevations in blood
pressure, headaches, profuse sweating, palpitations, and anxiety.
Should be considered in all individuals with paragangliomas and/or pheochromocytomas, particularly
those with the following:
 Multiple tumors (including bilateral)
 Multifocal with multiple synchronous or metachronous tumor
 Recurrent tumors
 Tumors that occur before age 40
 Individuals with a family history of such tumors
Inheritance: Autosomal Dominant
*Mutations in SDHD demonstrate a parent of origin effects and only cause disease when they are inherited
from the father.
*The age-dependent penetrance, variable expressivity of the disorder, and parent-of-origin effects lead many
individuals with this disorder to be simplex cases (i.e. no family history of related tumors).
*Mutations in SDHAF2 can also cause this syndrome; however, only three Dutch individuals have been found
to have a mutation in this gene. Research testing is available.
Incidence: Rare (de novo mutation rate is unknown)
Melissa Gilstrap, MS, CGC
5 of 11
 Juvenile Polyposis syndrome:
Mutations in SMAD4 or BMPR1A predispose individuals to develop juvenile hamartomatous polyps of the GI
tract. The term “juvenile” refers to the type of polyp that develops, not the age at which polyps are found.
These polyps have normal epithelium with a dense stroma, an inflammatory infiltrate, and a smooth surface
with dilated, mucus-filled, cystic glands in the lamina propria. Most people with Juvenile Polyposis have
several polyps by age 20; some may only develop a few polyps over their lifetime and some may have more
than one hundred over their lifetime. Most juvenile polyps are benign but transformation to cancer (usually of
the colon) can occur. Cancers of the stomach, upper GI tract, and pancreas can also be found.
Suspect when there is a personal history of any one of the following:
o More than five juvenile polyps of the colorectum
o Multiple juvenile polyps of the upper and lower GI tract
o Any number of juvenile polyps and a family history of juvenile polyps
Inheritance: Autosomal Dominant
Incidence: 1 in 16,000-100,000
 Li-Fraumeni syndrome:
Mutations in TP53 predispose individuals to soft-tissue sarcomas, breast cancer, leukemia, osteosarcoma,
melanoma, and cancer of the colon, pancreas, brain, and adrenal cortex. Multiple primary cancers often occur.
Two forms of Li-Fraumeni syndrome are recognized: Classic and Li-Fraumeni-like.
Cancers that should make you suspect Li-Fraumeni syndrome:
o Sarcoma
o Breast, Brain
(and breast phyllodes)
o Leukemia- Acute
o Adrenal cortical
Classic Li-Fraumeni syndrome is defined by a personal or family history of all of the following:
 Proband with a sarcoma diagnosed before age 45
 A first-degree relative with any cancer under age 45
 A first or second-degree relative with any cancer under 45 years old or a sarcoma at any age
Li-Fraumeni-like syndrome is defined by:
Birch definition:
o A personal or family history of all of the following:
 A proband with any childhood cancer or sarcoma, brain tumor, or adrenal cortical tumor
diagnosed before 45 years of age
 A first- or second-degree relative with a typical LFS associated cancer at any age
 A first- or second-degree relative with any cancer under age 60
Chompret definition:
o A personal and family history of any one of the following:
 A proband with a brain tumor, breast cancer, or adrenal cortical cancer diagnosed before
age 36 with one first- or second-degree relative with cancer (not breast cancer if the proband
had breast cancer) before age 46 or multiple primary cancers at any age
 A proband with multiple primaries (two of which are either sarcoma, brain tumor, breast
cancer, and/or adrenocortical carcinoma) with the initial cancer occurring before age 36,
regardless of family history
 A proband with adrenocortical carcinoma at any age, regardless of family history
Inheritance: Autosomal Dominant
Incidence: rare, fewer than 400 families worldwide
Melissa Gilstrap, MS, CGC
6 of 11

Lynch syndrome (Hereditary Non-Polyposis Colorectal Cancer)
Mutations in a mismatch repair gene (MLH1, MSH2, MSH6, and PMS2) predispose individuals to colon, endometrial,
ovarian, stomach, small intestine, hepatobiliary, renal pelvic, pancreatic, and other cancers. Tumors are typically
characterized as having high microsatellite instability (MSI-high). Individuals with mutations in MSH6 and PMS2 tend to
have later ages of onset for cancer (many greater than age 50) than those with MLH1 and MSH2 mutations. Families with
MSH6 mutations may have MSI-low tumors and an increased risk for endometrial cancer as compared to families with
mutations in the other three mismatch repair genes. MSI or Immunohistochemistry (IHC) testing should be conducted on
any available colon or endometrial tumor samples prior to proceeding with genetic testing.
Suspect when there is a personal or close family history of:
o Colorectal cancer < age 50
o Colorectal cancer < age 60 with any of the following features:
 MSI-H (high microsatellite instability)
 Immunohistochemistry (IHC) showing absence of one or more of the protein products of
MLH1, MSH2, MSH6, and/or PMS2
 Tumor infiltrating lymphocytes
 Crohn’s-like lymphocytic reaction
 Mucinous/signet-ring differentiation
o Two or more Lynch syndrome-related conditions diagnosed at the same time or different times:
 Any GI cancer
 Endometrial cancer
 Ovarian cancer
 Ureter or renal pelvis cancer
 Sebaceous adenomas or keratoacanthomas
Criteria for tumor block testing (MSI and IHC): Bethesda Guidelines
o Colorectal cancer diagnosed in a patient before the age of 50
o Patient diagnosed with a synchronous (two cancer at the same time) or metachronous (two cancers
at different times) colorectal cancer or two Lynch syndrome-related cancers (see above) regardless
of age
o Colorectal cancer with the MSI-H histology in a patient less than age 60
 MSI-H histology = Presence of tumor infiltrating lymphocytes, Crohn’s-like lymphocystic
reaction, mucinous or signet-ring differentiation, or a medullary growth pattern
o Colorectal cancer diagnosed in one or more first-degree relatives with a Lynch syndrome-related
cancer, with one cancer diagnosed before age 50
o Colorectal cancer diagnosed in two or more first- or second-degree relatives at any age
*Bethesda criteria are known to be not inclusive enough. Five out of twenty-three probands with mismatch repair mutations
did not meet the Bethesda Guidelines in a 2005 study by Hampel et al. Tumor block testing would be reasonable for all
colorectal cancers diagnosed before age 60.*
Clinical diagnosis criteria (Amsterdam II)- An individual must have all of the following:
o Three or more family affected family members, one of whom is a first-degree relative of the other
two, with Lynch syndrome-related cancers
o Two successive generations affected
o One or more of the Lynch syndrome-related cancers diagnosed before age 50
o Familial Adenomatous Polyposis (FAP) is excluded
*Amsterdam II criteria are known to have a specificity of about 78%; therefore, over 20% of individuals with Lynch
syndrome would not meet these criteria.
Inheritance: Autosomal Dominant
Incidence: 1 in 200-1,000 (1-3% of all colon cancers, ~1% of all endometrial cancers)
Melissa Gilstrap, MS, CGC
7 of 11
 Multiple Endocrine Neoplasia, Type 1 (MEN1):
Mutations in MEN1 predispose individuals to parathyroid, pituitary, and gastro-entero-pancreatic tract
tumors as well as carcinoid and adrenocortical tumors. Several non-endocrine tumors associated with MEN1
such as facial angiofibromas, collagenomas, and lipomas are also seen. There are 20 endocrine and nonendocrine tumors that can be seen in varying combinations with MEN1 so no diagnostic criteria are available.
Individuals often have physical and biochemical symptoms of hormone dysfunction due to the endocrine
involvement.
Suspect when there is a personal or close family history of:
o Parathyroid tumors
o Pituitary tumors
o Well-differentiated endocrine tumors of the gastro-entero-pancreatic tract:
 Stomach
 Duodenum
 Pancreas
 Intestinal tract
Inheritance: Autosomal Dominant
Incidence: 1 in 30,000
 Multiple Endocrine Neoplasia, Type 2 (MEN2):
Mutations in RET predispose individuals to three different subtypes: Familial Medullary Thyroid Cancer
(FMTC), MEN2A, and MEN2B. All three subtypes are characterized by medullary thyroid cancer. Individuals
with MEN2A and MEN2B also carry an increased risk for pheochromocytoma. In MEN2A, parathyroid
adenomas or hyperplasia is also found. In MEN2B, a “Marfanoid” body habitus, enlarged lips, mucosal
neuromas, and ganglioneuromatosis of the GI tract are also found. The onset of medullary thyroid cancer is in
childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.
FMTC clinical diagnostic criteria:
o Four cases of medullary thyroid cancer in the absence of pheochromocytoma and parathyroid
adenoma/hyperplasia
*Mutations typically in exons 10, 11, 13, or 14 of RET (88%)
MEN2A clinical diagnostic criteria:
o Two or more specific endocrine tumors in a proband or close family members
 Medullary thyroid carcinoma
 Pheochromocytoma
 Parathyroid adenoma/hyperplasia
*Mutations typically in exons 10 or 11 of RET (95%)
MEN2B clinical diagnostic criteria:
o Medullary thyroid carcinoma
o Mucosal neuromas of the lips and tongue
o Medullated corneal nerve fibers
o Distinctive facies with large lips
o “Marfanoid” body habitus
*Two mutations found in 95% of affected individuals: M918T and A883F
Inheritance: Autosomal Dominant
Incidence: 1 in 30,000
Melissa Gilstrap, MS, CGC
8 of 11
 MYH-Associated Polyposis (MAP):
Mutations in MYH predispose individuals to colon and duodenal polyps which can become cancerous.
Individuals with MAP have similar features as those with the attenuated form of Familial Adenomatous
Polyposis (AFAP) so genetic testing of APC (the gene involved in FAP) and MYH is often ordered together.
Suspect when there is a personal or close family history of:
o 10-100 adenomatous colon polyps
o Duodenal polyps or adenomas
o Congenital hypertrophy of the retinal pigment epithelium (CHRPE)
o Early onset colon cancer (at < age 50) without multiple polyps
 Low microsatellite instability (MSI-low) colon tumor
Inheritance: Autosomal Recessive
Incidence: Unknown, likely underreported
o Carrier frequency is 1-2% of the general population, so you can see multiple cases of MAP in one
family

Neurofibromatosis, Type 1 (NF1):
Mutations in NF1 lead to multiple café-au-lait spots, axillary and inguinal freckling, neurofibromas, and iris Lisch
nodules. 50% of individuals with NF1 have learning disabilities. Less commonly, individuals can have serious
manifestations including plexiform neurofibromas, optic nerve and other central nervous system gliomas, and malignant
peripheral nerve sheath tumors. Women with NF1 have a 5-fold increased risk of developing breast cancer before age 50
and a 3.5-fold increased risk of developing breast cancer in their lifetime.
Neoplasms in NF1:
o Leukemia, especially juvenile chronic myelogenous leukemia, is slightly more common in children
with NF1 than those in the general population
o Optic gliomas, usually present before age 6
o Second central nervous gliomas in 20% of those who had optic gliomas in childhood
o Non-optic gliomas and malignant peripheral nerve sheath tumors within the field of treatment of
an optic glioma
o Malignant peripheral nerve sheath tumors are the most frequent neoplasms observed and occur in
about 10% of affected individuals
o Gastrointestinal stromal tumors, pheochromocytomas, and breast cancer can also be seen
Diagnostic criteria:
An individual must have two or more of the following:
o Six or more café-au-lait macules
o Two or more neurofibromas or one plexiform neurofibroma
o Freckling in the axillary or inguinal regions
o Optic gliomas
o Two or more Lisch nodules
o A distinctive osseous lesion such as sphenoid dysplasia or tibial pseudoarthrosis
o A first-degree relative with NF1 as described by the above criteria
Inheritance: Autosomal Dominant
Incidence: 1 in 3,000 (50% have a de novo mutation)
Melissa Gilstrap, MS, CGC
9 of 11

Neurofibromatosis, Type 2 (NF2):
Mutations in NF2 predispose individuals to bilateral vestibular schwannomas and schwannomas of other cranial and
peripheral nerves, meningiomas, and (rarely) ependymomas and astrocytomas.
Diagnostic criteria:
An individual must have one of the following:
o Bilateral vestibular schwannomas
o A first-degree relative with NF2 and:
 Unilateral vestibular schwannoma
OR
 Any two of the following: meningioma, schwannoma, glioma, neurofibroma, posterior
subcapsular lenticular opacities
o Unilateral vestibular schwannoma and any two of the following: meningioma, schwannoma,
glioma, neurofibroma, posterior subcapsular lenticular opacities
o Multiple meningiomas and:
 Unilateral vestibular schwannoma
OR
 Any two of the following: schwannoma, glioma, neurofibroma, and cataract
Inheritance: Autosomal Dominant
Incidence: 1 in 25,000-40,000

Peutz-Jeghers syndrome (PJS):
Mutations in STK11 cause GI hamartomatous polyposis and mucocutaneous pigmentation. Polyps typically occur in the
small intestine but can also be found in the stomach and colon. PJS polyps are typically characterized pathologically by
the unique finding of mucosa with interdigitating smooth muscle bundles in a characteristic branching tree appearance.
The hyperpigmentation presents in childhood with dark blue or brown macules around the mouth, eyes, and nostrils as
well as the perianal area and buccal mucosa. These macules may fade in puberty and adulthood. Individuals with PJS
are at increased risk for colorectal, gastric, pancreatic, breast, and ovarian cancers. Females are at risk for sex-cord tumors
with annular tubules and adenoma malignum of the cervix.
Clinical diagnostic criteria:
Individual with a histopathologically confirmed hamartomatous polyp:
o Requires two or more of the following for a definite diagnosis:
 Family history consistent with autosomal dominant inheritance
 Mucocutaneous hyperpigmentation
 Small-bowel polyposis
Individuals without a histopathologically confirmed hamartomatous polyp:
o Requires one of the following for a probable diagnosis:
 Two of the three criteria listed above
 For individuals without a family history of PJS: two or more histologically verified PJS-type
hamartomatous polyps
 For individuals with a first-degree relative with PJS: presence of mucocutaneous
hyperpigmentation
Inheritance: Autosomal Dominant
Incidence: 1 in 120,000
Melissa Gilstrap, MS, CGC
10 of 11
 Von Hippel-Lindau (VHL):
Mutations in VHL predispose individuals to hemangioblastomas of the brain, spinal cord, and retina; renal
cysts and clear cell renal carcinoma; pheochromocytoma; and endolymphatic sac tumors.
Clinical diagnostic criteria:
Simplex case: no known family history of VHL
o Two or more of the following characteristic lesions:
 Hemangioblastomas of the retina or brain
 Single hemangioblastoma in association with kidney or pancreatic cysts
 Renal cell carcinoma
 Adrenal or extra-adrenal pheochromocytomas
 Endolymphatic sac tumors
 Papillary cystadenomas of the epididymis or broad ligament
 Neuroendocrine tumors of the pancreas
Individual with a family history of VHL:
o One or more of the following characteristic lesions:
 Retinal angioma
 Spinal or cerebellar hemangioblastoma
 Pheochromocytoma
 Multiple renal or pancreatic cysts
 Epididymal or broad ligament cystadenomas
 Renal cell carcinoma before age 60
Inheritance: Autosomal Dominant
Incidence: 1 in 36,000
Melissa Gilstrap, MS, CGC
11 of 11