Table 5.

Recommended Surveillance for Individuals with ETV6 Thrombocytopenia and Predisposition to Leukemia

System/ConcernEvaluationFrequency
Hematology/
Oncology 		CBC w/differentialEvery 6 to 12 mos 1, 2, 3
Bone marrow aspirate & biopsy 4Annually 1, 2

CBC = complete blood count

1.

The benefit of this screening regimen is currently unknown.

2.

The frequency of such screening must be weighed against the burden of the screening protocol, particularly in young children. The frequency of CBC and bone marrow evaluations should be determined on a case-by-case basis by the physician and in consideration of patient/family preferences.

3.

If changes in the CBC with differential are persistent for 2-4 weeks, particularly cytopenias, consider an additional bone marrow aspirate and biopsy.

4.

To include morphology, cytogenetics, fluorescence in situ hybridization (FISH) (e.g., for chromosomes 5q, 7q, 8, and 20q) and molecular studies (depending on morphology, cytogenetics, and/or FISH) [Di Paola & Porter 2019].

From: ETV6 Thrombocytopenia and Predisposition to Leukemia

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