General Topics

Overview of Endocrine Neoplasia and Cancer | Endocrinology

What are endocrine neoplasia and cancer?

Endocrine neoplasia refers to growths or tumors that affect the hormone-producing endocrine system. Tumors develop in the adrenal glands, pituitary gland, parathyroid glands, or pancreas and can be cancerous or benign. The Nig Comprehensive Cancer Center‌ Endocrine Neoplasia Program is dedicated to the evaluation and treatment of the structural and hormonal symptoms of these disorders.

Our endocrine neoplasia program is the only one in Connecticut, and our dedicated team of experienced multidisciplinary specialists provides clinical services in the following areas:

  • Thyroid cancer and thyroid nodules
  • Fine injection aspiration biopsy: Thyroid and adrenal
  • Thyroid ultrasound
  • Thyroid carcinoma test: Thyrogen stimulated thyroglobulin and thyroid scan
  • Cancer and benign tumors of the adrenal glands.
  • Invasive radiology including petrous sinus sampling, adrenal vein sampling, and selective infusion of pancreatic calcium
  • Hyperparathyroidism and parathyroid tumors
  • Pituitary adenomas
  • Dynamic endocrine examination
  • Nuclear medicine scan

With specialists in a variety of diagnostic and therapeutic approaches, we work with teams of physicians from other disciplines to treat patients with endocrine neoplasia. Our medical professionals have experience in endocrine surgery, urological surgery, neurosurgery, neuro-ophthalmology, pathology, nuclear medicine, invasive radiology, hypertension, genetics, molecular biology, and endocrinology. They provide state-of-the-art patient care while conducting basic and clinical research to advance treatment options.

Types of endocrine neoplasia and cancer

Tumors can appear in any large endocrine gland, including the thyroid, parathyroid, pituitary, and adrenal glands, and the pancreas. The most common sites are:

  • Thyroid gland: Most endocrine cancers develop in the thyroid gland (a butterfly-shaped organ in the lower neck). Thyroid cancer is more common in women than in men. Statistics show that the annual rate of thyroid cancer is increasing in the United States and around the world. The good news is that most thyroid tumors (called nodules) are not cancerous.
  • Pituitary gland: A pea-sized organ connected to the brain, the pituitary gland produces hormones that affect growth and fertility. Pituitary tumors are almost always benign, but they contain more or less than one or more hormones, which can upset the balance of other glands.
  • Adrenal gland: The two adrenal glands that live above the kidneys produce hormones that regulate metabolism (cortisol), stress response (adrenaline), blood pressure (aldosterone), and certain sexual characteristics (androgens).
  • Pancreas: Although the pancreas plays an active role in the digestive system, it is also a source of important hormones, including insulin. Rare tumors produce too much insulin or other related hormones, which can affect blood sugar levels.

Although some cases are inherited, the cause of most endocrine cancers is generally unclear.

Symptoms of endocrine neoplasia and cancer

Some patients with thyroid tumors notice a lump in the neck. For others, and for other endocrine tumors, the general rules do not apply. Some tumors cause severe hormonal changes or discomfort, while other tumors do not have any symptoms.

So when does a tumor have symptoms? You basically have symptoms if it doesn’t work (makes extra hormones) but is active (doesn’t make them). For example, an adrenal tumor that produces excess testosterone can cause a patient to develop certain male characteristics, such as facial hair. Symptoms also appear as the tumor grows.

A large tumor destroys part of the gland, causing a lack of hormones. It also affects nearby structures. For example, a large pituitary tumor can focus on the nerve that runs between the eyes and the brain, causing vision changes. When endocrine tumors have no symptoms, doctors may randomly notice them and evaluate the patient for another reason.

What are the genes associated with multiple endocrine neoplasias?

Mutations in the MEN1, RET, and CDKN1B genes cause multiple endocrine neoplasms. Mutations in the MEN1 gene cause type 1 multiple endocrine neoplasias. This gene provides instructions for the production of a protein called melanin. Menin acts as a tumor suppressor, which means that it generally prevents cells from growing and dividing too quickly or uncontrollably.

Although the exact function of the meninges is unknown, it is involved in cellular functions such as DNA copying and repair and regulation of the activity of other genes. When mutations inactivate two copies of the MEN1 gene, the meninges are no longer available to control cell growth and division. Loss of functional meninges allows cells to divide more frequently, leading to tumor characterization of multiple endocrine neoplasia type 1. It is not clear why these tumors affect endocrine tissues.

Mutations in the RET gene can cause type 2 multiple endocrine neoplasias. This gene provides instructions for the production of a protein involved in cell signaling. The RET protein stimulates chemical reactions that direct cells to respond to their environment, for example by dividing or maturing. Mutations in the RET gene over-activate the protein’s signaling function, which stimulates cell growth and division in the absence of signals external to the cell. This unproven cell division can lead to the formation of tumors in the endocrine glands and other tissues.

Mutations in the CDKN1B gene cause type 4 multiple endocrine neoplasias. This gene provides instructions for the production of a protein called p27. Like the meaning protein, p27 is a tumor suppressor that helps regulate cell growth and division. Mutations in the CDKN1B gene reduce the number of functional p27 that allows cells to grow and divide without being analyzed. This irregular cell division leads to the development of tumors in the endocrine glands and other tissues.

Diagnosis of endocrine neoplasia and cancer

Doctors can perform several tests to check for a suspected endocrine tumor:

  • A medical history and physical exam to assess for physical or behavioral changes related to hormone function
  • Lab tests to check for abnormal hormone levels in the blood or urine
  • Imaging studies (CT scan, MRI, or ultrasound) to look for evidence of abnormal tissue in the gland
  • A biopsy to obtain a sample of abnormal tissue and analyze it for cancer cells

Treatment for endocrine neoplasia and cancer

For any endocrine tumor, treatment involves surgery to remove it. For people with cancer, another approach that is sometimes used is radiation therapy. Patients sometimes receive hormone therapy to balance the level of hormones in the body. Depending on the type of tumor, your doctor may prescribe other specific rules to meet your individual needs.


Types and Causes of Paget’s Disease | Endocrinology

What is Paget’s disease?

Paget’s disease of bone is a chronic illness of the skeleton. In healthy bones, a process called reshaping removes old pieces of bone and replaces them with fresh, new bone. It causes this process to become unbalanced, resulting in abnormally shaped, weak, and brittle new bone. It most often affects older people and occurs in about 2 to 3 percent of the population over 55 years of age.

Many patients with Paget’s disease have no symptoms and are not aware that they have the disease until X-rays are taken for some other reason. When there is bone pain and other symptoms, they may be related to the disease itself or to complications that arise from the disease, such as arthritis, bone deformity, and fractures.

In most cases, the treatment of Paget’s disease involves taking medications to help slow or stop the progress of the disease. For patients who have difficulties, surgery may be desirable to realign deformed bones or to help fractures heal.


Paget’s disease causes no symptoms in most people with the condition and is often seen incidentally when X-ray tests are obtained for other reasons. However, It can cause pain, deformity, fracture, and arthritis in the bones. The bone pain of Paget’s disease is localized to the affected area of the bone.

The bones most commonly affected by Paget’s disease include the spine, thigh bone (femur), pelvis, skull, clavicle (clavicle), and upper arm bone (humerus). Fractures can occur because the affected bone is not as strong as normal bone. Arthritis occurs due to deformity of the affected bone adjacent to the joint and bowing of the affected long bones. The resulting type of arthritis is osteoarthritis.

The symptoms of Paget’s disease rest on the bones affected and the severity of the disease. Enlarged bones can pinch adjacent nerves, causing tingling and numbness. Arching of the legs may occur. Hip or knee involvement can cause arthritis, lameness, as well as pain and stiffness in the hip or knee.

Headache, vision, and hearing loss can occur when the bones of the skull are affected. With widespread Paget’s disease, it is possible to develop congestive heart failure due to an increased workload on the heart. Sometimes the skin over the affected bone is warmer than usual. This is due to the increased blood supply to the pagetic bone.


  • Monostotic type: When a single site of the bone is affected by Paget’s disease, it is known as the monostotic type.
  • Polyostotic type: When Paget’s disease affects multiple sites in the bone, it is called the polyostotic type.


Researchers have yet to definitively establish the cause of Paget’s disease. It appears to be hereditary. Rendering to the American College of Rheumatology, an additional than one family member has the disorder in 30 percent of cases.

Another suggestion is that the disorder is possibly due to an infection with the measles virus during childhood. Recent studies affirm that measles could alter the mechanism of bone formation and cause Paget’s disease.

Evidence suggests that the number of people with Paget’s disease has been declining over the past 25 years. Some scientists have linked the increase in vaccination in many countries and the resulting decrease in the number of people with measles to decreasing rates of Paget’s disease.

Risk factors

Years: People over the age of 40 are more likely to develop Paget’s disease of bone.

Sex: Men are affected more often than women.

National origin: Paget’s disease of bone is most common in England, Scotland, central Europe, and Greece, as well as in countries colonized by European immigrants. It is rare in Scandinavia and Asia.

Family history: If you have a close relative who has Paget’s disease of bone, they are more likely to develop the condition.


During the physical exam, your doctor will examine the areas of your body that are causing you pain. You can also order X-rays and blood tests that can help confirm the diagnosis of Paget’s disease of bone.

Imaging tests

The bone changes common to Paget’s disease of bone can be revealed by:

  • X-rays: The first sign of Paget’s disease of the bone is repeatedly abnormalities found on x-rays done for other reasons. X-ray images of your bones can show areas of bone resorption, bone enlargement, and deformities that are individual of Paget’s disease of bone, such as prostration of the long bones.
  • Bone scan: In a bone scan, a radioactive substance is injected into your body. This material travels to the points in the bones most affected by Paget’s disease of bone, which is why it lights up in the scanned images.

Lab tests

People who have Paget’s disease of bone generally have elevated levels of alkaline phosphatase in their blood, which can be revealed by a blood test.


If you don’t have symptoms, you may not need treatment. However, if the disease is active, designated by an elevated alkaline phosphatase level, and is affecting high-risk sites in your body, such as your skull or spine, your doctor may recommend treatment to prevent complications, even if you have no symptoms.


Medications for osteoporosis (bisphosphonates) are the most common treatment for Paget’s disease of bone. Some bisphosphonates are taken by mouth, while others are injected. Oral bisphosphonates are generally well-tolerated but can irritate the gastrointestinal tract. Examples include:

  • Alendronate (Fosamax)
  • Ibandronate (Boniva)
  • Pamidronate (Aredia)
  • Risedronate (Actonel)
  • Zoledronic acid (Zometa, Reclast)

In rare cases, bisphosphonate therapy has been related to severe muscle, joint, or bone pain, which may not resolve when the drug is stopped. Bisphosphonates can also increase the risk of a rare condition in which a section of the jaw dies and deteriorates (osteonecrosis of the jaw), usually associated with active dental disease or oral surgery.

If you cannot tolerate bisphosphonates, your doctor may prescribe calcitonin (Miacalcin), a natural hormone involved in the regulation of calcium and bone metabolism. Calcitonin is a medicine that you give yourself by injection or nasal spray. Side effects can include nausea, facial flushing, and irritation at the injection site.


In rare cases, surgery may be required to:

  • Helps heal fractures
  • Replace joints damaged by severe arthritis
  • Realign deformed bones
  • Reduce pressure on nerves

Paget’s disease of bone frequently causes the body to make too many blood vessels in pretentious bones, increasing the risk of serious blood loss during an operation.

If you are arranged for surgery involving bones affected by Paget’s disease, your physician may prescribe medications to reduce the activity of the disease, which can help reduce blood loss during surgery.


Bone expansion: The bone affected by Paget’s disease expands and can become deformed. Long bones can curve, so, for example, one leg may end up shorter than the other.

Fractures: The bone affected by Paget’s disease is weaker than usual, so it is more likely to break than healthy bone. It can also take longer than normal for a bone to heal after a fracture.

Nerve compression: When bones expand, they can sometimes squeeze nearby nerves. This is more likely to occur in the spine, which can lead to weakness and tingling in the legs.

Deafness: If the bones in the head are affected by Paget’s disease, it can lead to hearing loss, for example, if the bones around the ear become thicker.

Osteoarthritis: Abnormal bone growth can put extra pressure on the joints and damage the cartilage that covers the ends of the bones. This can lead to osteoarthritis in the joint. Symptoms of osteoarthritis include pain (especially when the joint is moved), stiffness, and sometimes swelling.

Tumors: Very rarely, a cancerous tumor can develop in a bone affected by Paget’s disease. This is estimated to happen in less than 1 in 500 cases. The first signs of this are increased pain and swelling around the tumor.


To reduce the risk of complications associated with Paget’s disease of bone, try these tips:

  • Avoid falls, Paget’s disease of bone puts you at high risk for bone fractures
  • Protect your home from falls
  • Eat well
  • Exercise regularly