A-T aND Cancer risk

Howard Lederman, MD, PhD and Jenny Wright, RN

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Approximately 30% of all people with A-T will develop cancer. Lymphomas and leukemias (lymphoid cancers) are by far the most common forms of cancer in people with A-T, especially those less than 20 years old. Over the age of 20, people with A-T are also susceptible to a wide variety of solid tumors; tumors that are usually seen only in much older individuals without A-T. Solid tumors may involve the breast, esophagus, stomach, liver, colon, and skin, among other organs. At this time, there is no way to predict which people with A-T are most likely to develop cancer.

Screening for Lymphoid Cancers

Routine screening tests in the absence of symptoms have NOT been shown to be useful in making an early diagnosis of lymphoid cancers. Furthermore, the treatment and prognosis of these cancers generally depend on the characteristics of the affected lymphocyte and not on the extent of disease at the time of diagnosis. Common warning signs of lymphoma and leukemia are similar to symptoms of mononucleosis. These include:

  • Recurrent or persistent fevers without explanation
  • Easy bleeding or bruising
  • Pale appearance
  • Swollen lymph nodes in neck, armpits or groin
  • Body aches and bone pain
  • Recurrent or persistent
  • Unexplained weight loss

These symptoms should prompt a visit to the doctor for a physical examination, a complete blood count and possibly other tests.

Screening for Solid Tumors

There are data showing that it is useful to screen for a variety of solid tumors in the general population, especially in people at high risk, because diagnoses at an early stage improve outcomes. Data are limited about the value of screening in people with A-T. However, we now recommend the following screening tests starting at the age of 20 years:

  • Annual physical exam (including examination of breasts, prostate, and Pap smear, as applicable).
  • Annual MRI scan of chest, abdomen and pelvis. Physical exam and MRI should be offset so that one or the other occurs every 6 months.
  • If there is a family history of colon or prostate cancer, consider screening colonoscopy and measurement of PSA levels.

Treatment

Cancers in people with A-T are treatable, but modifications need to be made to standard therapy. Therefore, it is strongly recommended that an oncologist who is familiar with the specific problems of people with A-T be involved in the treatment plan.


Howard Lederman, MD, PhD – hlederm1@jhmi.edu
Jenny Wright, RN – jwrigh58@jhmi.edu
410-614-1922
Funded by A-T Children’s Project