Cancers affecting Individuals with Down Syndrome

The American Cancer Society estimated that nearly two million new cases of cancer will be diagnosed in 2020. In studies done to determine the cancer risk to those individuals with down syndrome and what cancer they could get, facts prove that those with Down Syndrome are highly protected from many of the solid tumor cancers. This means that they do not frequently get cancers like breast, uterine or prostate cancers. They are more susceptible to blood cancers, like leukemia. This extra chromosome helps protect those with disorder from some cancers!

The Global Down Syndrome Foundation writes, “Children with Down syndrome are particularly susceptible to two types of leukemia: acute megakaryoblastic leukemia (AMKL) and B-cell acute lymphoblastic leukemia (B ALL), the most common subtype of acute lymphoblastic leukemia (ALL).

They are also uniquely susceptible to one bone marrow disorder that results in a higher risk of AMKL called transient myeloproliferative disorder (TMD). TMD, also called transient leukemia, is found only in newborns with Down syndrome. As many as 30 percent of babies with Down syndrome are born with TMD, and although it can cause severe or life-threatening problems, most cases resolve naturally by the third month of life.

However, infants with TMD are at increased risk of developing acute myeloid leukemia (AML), which can strike children all the way through the teenage years. Children with Down syndrome between ages 1 and 5 are 150 times more likely than typical children to develop AMKL, a rare type of AML. AMKL is a life-threatening leukemia in which malignant megakaryoblasts proliferate abnormally and injure various tissues.”

Acute Megakaryoblastic Leukemia

Patients with AMKL may be affected in several different ways and may develop one or more of the following disease features:

  • Anemia
  • Bleeding or bruising due to thrombocytopenia (low platelet count)
  • Increased susceptibility to infections
  • Enlarged organs, mainly the liver and spleen
  • Bone lesions
  • Leukocytosis (increase in the number of white cells in the blood)
  • Myelofibrosis (formation of fibrous tissue within the bone marrow that disrupts blood cell production)

The diagnostic criteria for AMKL is a proliferation of 20% or more of megakaryoblasts and 50% or more of blasts of megakaryocytic lineage as seen from bone marrow aspirates or peripheral blood.

  • Peripheral blood – blood may contain megakaryoblastic fragments and small blast cells which tend to have variable shapes.
  • Bone marrow aspirate and biopsy – bone marrow biopsies can show numerous blasts, clusters of micro-megakaryoblasts or more mature megakaryoblasts. There is a corresponding decrease in usual bone marrow maturation. Cytoplasmic blebs may also be identified to help with the diagnosis.

Further evidence to confirm the diagnosis can also come from the following tests:

  • Flow cytometry – this identifies the specific antigens by separating the different types from blood or bone marrow, and then counting them.
  • Immunophenotyping – this test uses antibodies to identify the types of antigens or markers on the surface of the cells. For AMKL, the cells normally show positivity for CD33, CD13, CD41, CD42, CD61 and factor VIII, and negativity for myeloperoxidase.
  • Chromosome analysis based on the patient group affected by AMKL.

B-cell acute Lymphoblastic Leukemia

All symptoms start when leukemia cells crowd out normal blood cells in bone marrow. The types of symptoms your child has will depend on the numbers of cancer cells and healthy blood cells.

Children with B-cell ALL may:

  • Bleed or bruise more easily than usual
  • Feel very tired
  • Get infections more often
  • Lose their appetite

Other symptoms include:

  • Bone or joint pain
  • Limping
  • Fever
  • Pale skin
  • Red or purple spots called petechiae on the skin
  • Swollen lymph nodes in the neck, underarms, or groin

If the cancer cells travel to your child’s liver and spleen, these organs can grow large enough to make the belly swell. In some boys, the testicles can also grow larger. The diagnosis for this blood cancer will vary slightly depending on your situation and specialist.

If you suspect you may be dealing with these blood cancers with a Down Syndrome individual, do not hesitate to seek medical care for them. Beginning treatment as soon as possible helps to create the best, and most healed outcome for all!

Resources Used:

Reclaiming Intimacy

The Global Down Syndrome Foundation



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