What is langerhans cell histiocytosis (LCH)?

Langerhans cell histiocytosis (LCH) is a rare disorder that begins in LCH cells. LCH cells are a type of white blood cell called a dendritic cell that is usually involved in helping the body fight infection. They are in all parts of the body: the blood, bone, skin, liver, spleen and intestines.

Sometimes mutations (changes) develop in genes that control how these cells work. These include mutations or changes in the DNA of the BRAF, MAP2K1, RAS and ARAF genes. These changes/mutations may cause too many LCH cells to grow and build up in certain parts of the body, where they can damage tissue or form lesions.

What are the symptoms of langerhans cell histiocytosis?

Symptoms may include:

Localized pain
Bone lesions
Swelling or a bump/mass over a bone that is affected
Fractures, particularly when the tumor is in a weight-bearing bone
Spine issues such as painful scoliosis or kyphosis
Enlarged liver or spleen
Anemia
Diabetes insipidus
Skin issues, including a skin rash or cradle cap (a scalp rash often in infants)
Ear pain or recurring ear infections
Low-grade fever
Weight loss and tiredness

What causes LCH?

Causes of langerhans cell histiocytosis include:

Having a parent who was exposed to certain solvents
Having a parent who was exposed to metal, granite or wood dust in the workplace
Having a family history of cancer or LCH
Having a personal history or family history of thyroid disease
Having infections as a newborn
Smoking, especially in young adults
Being of Hispanic descent
Not being vaccinated as a child

How do you diagnose langerhans cell histiocytosis?

How we go about diagnosing LCH depends on the symptoms. We may use the following tests and procedures:

A physical exam
Blood counts are drawn and checked to look at all the blood cell types and numbers
Blood chemistry and liver function will help determine the involvement of other organs
BRAF gene testing: A laboratory test in which a sample of blood or tissue is tested for certain changes in the BRAF gene
Urinalysis: looking at urine concentration
Bone marrow aspiration and biopsy: The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone to look for LCH cells.
X-rays of all the bones looking for any lesion: LCH can affect any bone and while often there is pain and/or swelling, sometimes there isn’t PET/CT and MRI of the brain can also be performed based on what areas are involved.

How do you treat LCH?

Children with LCH should have their treatment planned by a team of health care providers who are experts in treating childhood cancer or LCH. Our team of oncologists is here for you and your family to review treatment options and answer any questions you may have.

Treatment can include:

Chemotherapy
Surgery
Radiation therapy
Photodynamic therapy
Immunotherapy
Targeted therapy
Other drug therapy
Stem cell transplant
Observation
New types of treatment that are tested in clinical trials

What are the outlook and long-term effects of this condition?

After treatment, our team monitors for many years to look for recurrence. We will run similar studies done at the time of diagnosis should we suspect we need to test.