Multiple endocrine neoplasia (MEN) is an
inherited genetic condition that causes tumors to grow in several of the body’s
hormone-producing, endocrine organs. MEN syndromes are traditionally divided
into two forms: type 1 and type 2.
MEN type 1 (MEN1) typically involves tumors
of the parathyroid glands, pituitary gland, and pancreas. MEN type 2 (MEN2) is
more commonly associated with medullary thyroid cancer and pheochromocytomas. These
tumors can be benign or malignant.
Children with MEN1 and MEN2 are treated at Dana-Farber/Boston
Children's through our Endocrine-Oncology Program
and the Boston
Children’s Hospital Thyroid Program. Our integrated pediatric
oncology service offers—in one specialized program—the combined expertise of a
leading cancer center and a premier children’s hospital. We build a team to
treat your child consisting of oncologists, endocrinologists, genetic
counselors, and surgeons.
Multiple
endocrine neoplasias are traditionally divided into two types, MEN1 and MEN2.
- MEN
type 1 usually involves tumors of the parathyroid glands, pituitary gland, and
pancreas (usually pancreatic islet cell tumors).
- MEN type 2 usually increases the risk of developing medullary
thyroid cancer or pheochromocytomas. MEN2 is often further divided into types
2A and 2B. Type 2A is also associated with hyperparathyroidism (overactive
parathyroid glands). Type 2B is often linked to growths in the body’s mucosal
surfaces, known as neuromas, and very early development of medullary thyroid
cancer.
As a parent,
you undoubtedly want to know what may have caused your child’s condition.
Both MEN1 and MEN2 are inherited disorders, meaning
that they are usually the result of an abnormal gene that is passed down in
families. Occasionally the conditions can arise from a new gene abnormality
that develops for unknown reasons in a patient without a family history of
these conditions. In general, MEN1 results from abnormalities in the MEN1 gene,
while MEN2 can arise from abnormalities in the RET gene.
The symptoms of MEN may vary from child to child and depend
on the type of the disease. Symptoms might mimic other, more common ailments.
Sometimes your child may not experience symptoms but MEN may be suggested
because of a family history.
Some symptoms
of MEN1 may include:
- Elevated
calcium levels leading to weakness, fatigue, bone pain, constipation, and
kidney stones from overactive parathyroid glands.
- Abdominal
pain, stomach ulcers, vomiting, diarrhea, and weight changes from pancreatic
islet cell tumors.
- Headaches,
weight changes, visual disturbances, problems with fertility, or discharge of
fluid from the nipples from pituitary gland tumors.
Some
symptoms of MEN2 might include:
- Elevated
calcium levels leading to weakness, fatigue, bone pain, constipation, and
kidney stones from overactive parathyroid glands.
- High
blood pressure, headaches, or sweating from pheochromocytomas.
- Lump
or swelling in the neck, difficulty breathing or swallowing, or hoarseness due
to medullary thyroid cancer.
Because
many of these symptoms can also point to other conditions, it’s important to
have your child evaluated by a qualified medical professional right away.
The first step in treating your child is forming an
accurate and complete diagnosis. MEN1 or MEN2 are sometimes diagnosed if your
child has developed cancers known to occur with MEN. If there is a family
history of these conditions, your child may be tested for them before he or she
develops tumors or other associated problems. Your child’s physician may order
a number of different tests including:
- A
physical exam and complete medical history.
- Genetic
tests to determine genetic alterations in the MEN1 or RET gene. Genetic
counselling to understand family history.
- Blood
and urine tests.
- A biopsy, a tissue sample taken from the tumor. The tumor's appearance under a
microscope helps doctors to make a diagnosis so the appropriate treatments can
be recommended.
- Magnetic
resonance imaging (MRI), a diagnostic
procedure that produces detailed images of the area where the tumor is located.
An MRI uses a combination of large magnets, radiofrequencies, and a computer to
analyze organs and structures within the body.
- A
computerized tomography scan (CT/CAT scan), an imaging technique that provides
more detailed pictures than X-rays.
- An
ultrasound, particularly for thyroid tumors in patients with MEN2.
- Nuclear
medicine studies.
There
may be other diagnostic tests that your doctor will discuss with you depending
on your child's individual situation. After we complete all necessary tests,
our experts meet to review and discuss what they have learned about your
child's condition. Then, we will meet with you and your family to discuss the
results and outline the best possible treatment options.
Treatment for
your child's MEN1 or MEN2 depends on the type of condition and whether or not
tumors have developed. Your child’s doctor may recommend:
- Screening for tumors related to your child’s
condition.
- Surgery
to prevent the development of medullary thyroid cancer in patients with MEN2.
- Surgery
to remove any tumors that have developed.
- Radiation,
the use of high-energy rays from a specialized machine to damage or kill cancer
cells and shrink tumors. This is often used together with surgery, either
before or after removal of the tumor.
- Chemotherapy, a drug treatment
that aims to destroy or shrink cancer cells, may be given before or after
surgery.
- Different groups
of chemotherapy drugs work in different ways. Your child may receive
chemotherapy orally, as a pill to swallow; intramuscularly, as an injection
into the muscle or fat tissue; intravenously, as a direct injection into the
bloodstream or IV; or intrathecally, as a direct injection into the spinal
column through a needle. Often, a combination of chemotherapy drugs is used.
- While
chemotherapy can be quite effective in treating certain cancers, the drugs
cannot differentiate normal healthy cells from cancer cells. As a result, there
can be adverse side effects during treatment. Being able to anticipate these
side effects can help the care team, child, and family prepare and, in some
cases, prevent these complications from occurring, if at all possible.
- Genetic
counselling to discuss future reproductive options.
Children who are treated through our Endocrine-Oncology Program benefit from
the work of our basic and clinical researchers, who are striving to understand
the scientific causes of endocrine cancers. Their work can result in the
introduction of new treatment options. We are a world leader in translational
research, bringing laboratory advances to the bedside and into doctors’ offices
as quickly as possible.
Clinical Trials
Clinical
trials, or research studies evaluating new treatment approaches, are a major
offering at Dana-Farber/Boston Children’s. For many children with rare or
hard-to-treat conditions, clinical trials provide new options.
It’s possible
that your child will be eligible to participate in one of our clinical trials.
In addition to launching our own clinical trials, we also offer trials
available through collaborative groups such as the Children's Oncology Group (COG).
If your child has a progressive or recurrent
tumor, she may be eligible for a number of experimental therapies available
through these groups or from one of our independent clinical investigators.
Children
with MEN who had been treated for a tumor should visit a survivorship clinic
yearly. Through the David
B. Perini, Jr. Quality of Life Clinic, our cancer survivorship
clinic, childhood cancer survivors receive a comprehensive follow-up evaluation
from their cancer care team. In addition to meeting with your pediatric
oncologists, your child may see one of our endocrinologists, cardiologists, neurologists,
neuro-psychologists, or alternative/complementary therapy specialists. We also offer patient and family
education, psychosocial assessment, genetic counseling, reproductive counseling, and opportunities to speak with other
childhood cancer survivors.