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Retinoblastoma is a cancer that forms in the retina, a layer of tissue in the eye that¡¯s sensitive to light. It¡¯s a rare eye cancer, but it¡¯s the most common cancer that starts in the eye in children. It¡¯s typically diagnosed in children under age 2.

We spoke with ophthalmologist and retinoblastoma specialist , to learn more about retinoblastoma, including symptoms, how it¡¯s diagnosed and how it¡¯s treated.

What causes retinoblastoma?

Each retina cell normally has two retinoblastoma genes, called RB1 genes, involved in cell division. If a cell loses both copies of the RB1 gene, you can develop retinoblastoma.

About 40% of cases are germline. This means either a child inherits this gene mutation from one of their parents, or a child develops a new gene mutation spontaneously. In these cases, retinoblastoma can be passed down to the next generation. In most germline cases, children have retinoblastoma in both eyes. This is called bilateral retinoblastoma.

About 60% of cases are caused by a sporadic gene mutation. In these cases, retinoblastoma is not inherited and cannot be passed down to the next generation. This will almost always be unilateral retinoblastoma, affecting only one eye.

Is genetic testing recommended for retinoblastoma?

Yes, it¡¯s our standard to refer patients with retinoblastoma and, at times, their family members, for genetic counseling and genetic testing.

When you have a potential genetic disorder, you¡¯re really referring a family. Families need genetic counseling, especially young parents who have a child with retinoblastoma. They often want to know what the odds are that their other children or potential children will develop retinoblastoma. It could be less than 1% in some cases and as high as 45% in other cases. So, whenever you have a genetic disorder that makes you more likely to have cancer, it¡¯s vital to see a geneticist who provides both genetic testing and genetic counseling.

What are the symptoms of retinoblastoma?

The most common symptom of retinoblastoma in the United States is a white reflex in the eye, known as leukocoria. If a photo is taken with the flash on, it will look like a white spot in the center of the pupil. This is an abnormal reflection of light from the retina.

Other symptoms that could indicate retinoblastoma are strabismus (crossed eyes) or a lazy eye.

Several conditions can cause these symptoms in the eye, many of which are not cancer. But they could negatively affect a child¡¯s sight, so it¡¯s important to have your child evaluated by an ophthalmologist, a medical doctor trained in eye surgery, as soon as possible if you notice these symptoms.

How is retinoblastoma diagnosed?

The early signs of retinoblastoma, such as a white reflex in the eye, are usually found when a child visits a pediatrician. If the assessment is concerning, they will refer the child to an ophthalmologist or an ocular oncologist for a diagnostic eye exam, which may include:

• Dilated eye exam: The child will be placed under anesthesia and their pupils will be dilated so the doctor can examine all parts of the eye.
• Ultrasound: The doctor looks for signs of calcium inside the eye, which is often associated with retinoblastoma.
• Fluorescein angiogram: The doctor dilates the child¡¯s eyes and then injects a colored dye into a vein in the arm. Once the dye reaches the blood vessels in the eye, the doctor uses a special camera to examine the retina.
• MRI: The doctor scans the brain and eye socket.

A biopsy is not used to diagnose retinoblastoma because it can potentially harm the eye, and removing tissue from the tumor can cause the cancer cells to spread.

¡°After the exams and testing are done, the cancer specialist will determine whether it¡¯s retinoblastoma,¡± says Gombos, stressing the importance of seeing someone with extensive experience diagnosing eye cancers.

How is retinoblastoma treated?

Treatment for retinoblastoma depends on several factors, including how advanced the tumor is.

¡°Our treatment approach to retinoblastoma is: first, save the child¡¯s life; second, save the child¡¯s eye; and third, save the child¡¯s sight,¡± says Gombos.

Chemotherapy kills cancer cells, and it can be delivered in different ways to treat retinoblastoma. One way is intra-arterially, in which chemo is delivered through a catheter inserted into a blood vessel in the groin. It then travels to the blood vessels that feed the eye, delivering the chemo directly into the eye. Intravenous means the chemo is injected into a blood vessel and pumped throughout the body. Chemo can also be injected directly into the eye with a needle while a patient is under anesthesia. This method is called intravitreal.

¡°We use these techniques to salvage the eye and often the sight,¡± says Gombos. ¡°But if the cancer is not responding, the disease progresses or if there¡¯s concern of the tumor growing near the optic nerve, we may surgically remove the eye. We don¡¯t want to risk it spreading elsewhere.¡±

If the tumor in the eye is advanced, then there is a potential risk of the tumor spreading. If that¡¯s the case, sometimes we will remove the eye at the beginning and avoid chemotherapy altogether. If the eye is so advanced that the vision will likely not be salvaged, this is often the best option. ??

¡°We always discuss the risks and benefits with every type of treatment with the family,¡± says Gombos. ¡°We factor in everything and determine what¡¯s in the best interest of the child.¡±

Can you recover from retinoblastoma?

Retinoblastoma is a highly curative disease when caught early. That¡¯s why it¡¯s important to get treatment at a specialized cancer center with specialists who treat this type of cancer.?

What research is being done to advance retinoblastoma treatment?

MD Anderson has contributed to several retinoblastoma clinical trials. A new clinical trial is exploring whether intravenous chemotherapy combined with intravitreal chemotherapy will improve the success rates of salvaging the eyes during retinoblastoma treatment.

Experts are also looking at using a liquid biopsy to diagnose retinoblastoma. While this test has been successful in detecting blood cancers and, more recently, solid tumors, experts are trying to figure out if this would apply to eye cancers.

¡°We¡¯re researching to see if tapping into the aqueous, which is the fluid in the front of the eye, will be helpful in assessing cancer,¡± says Gombos.

Gombos began researching retinoblastoma during medical school 30 years ago, and he sees a lot of promise in the treatment advances.

¡°Retinoblastoma is a disease with a lot of hope,¡± he says. ¡°When I see these advances, I continue to see opportunities for better treatments across the globe.¡±

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Rhabdomyosarcoma is a rare type of soft tissue sarcoma that develops in the skeletal muscles. The disease is most common in children and adolescents. But rhabdomyosarcoma can affect adults, too. And adult rhabdomyosarcoma is often more difficult to treat.

We spoke with sarcoma medical oncologist , to learn more about adult rhabdomyosarcoma. He shares the different types of adult rhabdomyosarcoma, how the type affects prognosis and treatment, and what MD Anderson is doing to advance adult rhabdomyosarcoma treatment.

Where does rhabdomyosarcoma start? ??

Rhabdomyosarcoma can appear almost anywhere in the body, but the most common locations are the:

• head and neck
• genitourinary system (urinary and genital organs)
• extremities (arms and legs)

What causes rhabdomyosarcoma in adults?

More than 90% of rhabdomyosarcoma cases happen suddenly. So, we don¡¯t really know what causes it. We do know certain inherited genetic conditions put you at a higher risk of developing rhabdomyosarcoma. They include:

• Li-Fraumeni Syndrome
• TP53 gene mutation
• Neurofibromatosis type 1 (NF1)
• Hereditary retinoblastoma

What are the symptoms of adult rhabdomyosarcoma?

Rhabdomyosarcoma symptoms depend on the cancer¡¯s location. Like most soft tissue sarcomas, the most common symptom is a growing, painless lump in the arms or legs.

This is a vague symptom, so it is often overlooked or mistaken for a benign condition.

Other symptoms may include:

• Head and neck: nasal congestion or vision changes
• Genitourinary system: blood in the urine or difficulty urinating
• Enlarged lymph nodes near the affected part of your body

Since it¡¯s so rare, many doctors do not have much experience with adult rhabdomyosarcoma. This is part of the reason many people are diagnosed when the cancer is at an advanced stage. ?

If your doctor suspects you have rhabdomyosarcoma, they will usually order an imaging test like a CT scan or MRI. Then you may need a needle biopsy or an excisional biopsy to test the tissue. The biopsy will determine whether it¡¯s cancerous.

How does adult rhabdomyosarcoma differ from childhood rhabdomyosarcoma?

A lot of people think of rhabdomyosarcoma as one disease. But there are different subtypes of rhabdomyosarcoma. They behave differently, and sometimes we treat them differently.

Pleomorphic rhabdomyosarcoma

Pleomorphic rhabdomyosarcoma mainly occurs in adults in their 50s and 60s. It very rarely affects children. It usually shows up in the arm or leg and can grow quickly. We usually treat pleomorphic rhabdomyosarcoma the same way we treat other high-grade soft tissue sarcomas.

Alveolar rhabdomyosarcoma

Alveolar rhabdomyosarcoma usually affects older children, teens and young adults in their 20s, 30s or 40s. It is characterized by the FOX01 gene fusion.

Embryonal rhabdomyosarcoma

Embryonal rhabdomyosarcoma is most common in very young children. It rarely affects adults. ?

Typically, we treat alveolar rhabdomyosarcoma and embryonal rhabdomyosarcoma similarly to how we treat pediatric cancers. But we may modify the treatment when they¡¯re diagnosed in adults. This could mean changing the medicine or adjusting the dosage. It¡¯s important to know the disease¡¯s subtype because that can inform our treatment: should we treat it similarly to a pediatric rhabdomyosarcoma, or treat it in a different way?

How is adult rhabdomyosarcoma treated?

Treatment for almost all patients with rhabdomyosarcoma ¨C child or adult, regardless of subtype ¨C typically involves:

• chemotherapy,
• surgery and/or
• radiation therapy.

Rhabdomyosarcoma often spreads to other parts of the body. It can spread to nearby lymph nodes, the lungs or sometimes the bone or bone marrow. Sometimes we will see these metastases at the time of diagnosis. Even if a patient only has one tumor, we know that based on the way these tumors behave, it¡¯s likely to spread.

So, we usually do chemotherapy first to shrink the main tumor that we can see. Surgery and/or radiation may follow, depending on the cancer¡¯s stage and grade. After that, we¡¯ll give the patient more chemotherapy to eliminate metastasis and help prevent recurrence.

We can also do fusion testing to help guide treatment. A gene fusion is when two genes are connected in a way that they¡¯re not supposed to be. There is a specific gene fusion called FOX01 that is commonly found in alveolar rhabdomyosarcoma. We know that having that fusion leads to a worse prognosis, so we will often use different treatments on those patients.

What¡¯s the prognosis for adult rhabdomyosarcoma?

Adult rhabdomyosarcoma tends to have a poorer prognosis than childhood rhabdomyosarcoma. We¡¯re not entirely sure why that is, but we think it may be because:

• Pleomorphic rhabdomyosarcoma is a unique subtype.
• Patients are often diagnosed with later-stage or advanced disease.
• There is less unification around treatment. We don¡¯t know if adults can tolerate the treatment as well as children.

There¡¯s a staging system that is often used for rhabdomyosarcoma. Although we can use the TNM system, as we do for many cancers, the staging system that is often applied to rhabdomyosarcoma is a bit more complicated. We know some patients with rhabdomyosarcoma that has spread to other areas can still be cured. This unique staging system helps us better understand the prognosis.

Adult rhabdomyosarcoma is curable. At MD Anderson, we use a multi-modality treatment approach with the intent to cure the disease. Every patient is different. I encourage you to speak with your care team to discuss treatment and prognosis.

What is MD Anderson doing to advance adult rhabdomyosarcoma treatment?

We are trying to determine the best standard treatment for older adults with rhabdomyosarcoma.

Genomic medicine researcher , and sarcoma medical oncologist and researcher , contributed to that studied the molecular drivers of pleomorphic rhabdomyosarcoma. Based on the findings, we¡¯re looking at possibly using immunotherapy to treat the disease.

I¡¯m also leading a clinical trial to see if T-cell therapy can be used to treat patients with advanced or metastatic rhabdomyosarcoma. We¡¯re really trying to look outside the box of standard chemotherapy for patients with rhabdomyosarcoma.

What else should patients and caregivers know about adult rhabdomyosarcoma?

Sarcomas make up about 1% of cancer diagnoses in the U.S. each year. Adult rhabdomyosarcoma cases account for just 3% of those diagnoses.

I see adults with rhabdomyosarcoma almost every day in the clinic. I always tell patients adult rhabdomyosarcoma is extremely rare, but it¡¯s not rare to us. That¡¯s why people come to MD Anderson.?

Any patient diagnosed with adult rhabdomyosarcoma or suspected of having this diagnosis should seek care at a sarcoma center that specializes in seeing and treating this disease.

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An eye freckle is a dark-colored spot on the eye. Doctors may also call it a nevus or mole. Nevi refers to more than one freckle.

Eye freckles may appear in the front or the back of the eye. Most are benign and will never turn into cancer. But sometimes an eye nevus can turn into uveal melanoma, which makes up about 5% of all melanoma cases.

Here, I¡¯ll share more about eye freckles, including the different types and how we treat those that become cancerous.

Eye freckles are common

Eye freckles are pretty common. Anybody can have them, but they usually occur in people with lighter skin. About 1 in 8 white people have a nevus in the eye.

Eye freckles form from melanocytes, cells that produce the color in our skin and eyes. When a bunch of these cells group together, it can form an eye nevus.

There are different types of eye freckles

You can develop an eye freckle anywhere on the pigmented part of your eye.

Iris freckle

An iris freckle develops on the front of the eye in the iris. It is typically benign and does not turn into cancer.

Choroidal nevus

A choroidal nevus is located in the back of the eye. These nevi are usually benign. But a small number of them can turn into melanoma.??

Why we look for changes in eye freckles

An ophthalmologist may monitor your eye freckles to see if they get bigger, thicker or change color. This might mean that the freckle has become cancerous.

Taking images of any eye freckles during regular eye exams can help doctors keep track of any changes.

At MD Anderson, we may use any of the following to monitor eye freckles or detect melanoma in the eye:

Slit lamp exam

During this exam, we use a device that has a microscope and bright light to examine your eye. We can also measure any nevi with the slit lamp.

Gonioscopy

We use a slit lamp and a special lens to check the eye¡¯s drainage system.

Ultrasound biomicroscopy

This ultrasound provides detailed images of the front segment of the eye.

Ocular coherence tomography

This is an imaging test that uses light waves to take cross-sectional pictures of your retina. We can then view all the layers of your retina. ?

Biopsy

If we suspect an eye nevus may be cancerous, we will order a biopsy. During a fine-needle biopsy, we stick a small needle in the eye and retrieve tissue cells. Or we may do an excisional biopsy where we surgically remove the area of the nevus. A pathologist will examine the sample to see if it¡¯s cancer. ?

It¡¯s important for your doctor to monitor eye freckles for any changes. This way, if the eye freckle becomes cancerous, they can catch it and treat it right away. ?

How to treat eye freckles that become cancerous

Most eye freckles will not turn into cancer. So, we don¡¯t treat those; we just monitor them.

When a nevus does turn cancerous, we¡¯ll typically treat it with surgery or high-dose radiation therapy.

Genetic mutations cause some uveal melanoma cases

We don¡¯t know exactly what causes some nevi to turn into cancer.

Mutations in the GNAQ and GNA11 genes are often associated with the transformation of benign nevi to cancer.

Some cancerous choroidal lesions are linked to a secondary mutation in the BAP1 gene. This can be passed down to other family members. We may refer you for genetic counseling if you have a BAP1 mutation and have been diagnosed with other types of cancer.

See a doctor about any vision changes

See a doctor if you have an eye freckle and start to notice any of the following changes to your vision:

• Blurred vision
• Flickering lights
• Distorted lines

These are clues that the nevus might have transformed to cancer. The biggest misconception people have about eye cancer is that it is always painful. Early cancer of the eye may not cause pain. That¡¯s why it¡¯s important to get checked out if you have any changes to your vision.

Remember, most eye freckles are benign

Eye freckles are similar to moles on the skin. They won¡¯t ever go away. They probably won¡¯t ever turn into cancer. But you should stay on top of any changes you see.

We always want to treat a cancerous lesion when it¡¯s small. If we can treat any concerning areas early, there¡¯s a better chance we can restore your vision. So, see your doctor if there's a change in the size or appearance of an eye freckle, or if you develop new symptoms.

, is an ocular oncologist and chief of Ophthalmology at MD Anderson.

or call 1-877-632-6789.