SUMMARY
In infants with myeloid hyperproliferation, in addition to benign causes, the differential diagnosis consists of Down syndrome (DS)-related transient abnormal myelopoiesis (TAM), acute myeloid leukemia (AML), and juvenile myelomonocytic leukemia (JMML). However, in rare cases, a non-DS related form of transient leukemia called infantile myeloproliferative disease (IMD) also occurs. This rare condition is difficult to recognize, making proper diagnosis and treatment choice challenging. The correct diagnosis is important, because with IMZ, just like with TAM, a watchful waiting policy is often sufficient. In AML, however, intensive chemotherapy is necessary. A recently published guideline describes the diagnostic steps and treatment options for infants with myeloid hyperproliferation. The flowchart, developed on the basis of literature, collected case studies and international expert consensus, provides advice on the correct (molecular) diagnosis and treatment of individual patients, ranging from a wait-and-see policy to intensive treatment. In addition to physical examination and blood tests, it is important to conduct genetic testing for both somatic and constitutional aberrations that may be associated with IMD or acute leukemia. Multidisciplinary collaboration between, among others, pediatric oncologists, morphologists and clinical geneticists is essential.
(ENG MAGAZINE HEMATOL 2022;19:205–10)
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