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Indian Journal of Cancer, Vol. 47, No. 4, October-December, 2010, pp. 470-471 Letter to Editor Myeloid proliferation in a newborn with Down syndrome M Agnihotri1, Y Khatib1, S Gujral2 1 R. N. Cooper Hospital, Vile Parle, Mumbai, India Correspondence Address: Code Number: cn10109 PMID: 21131764 DOI: 10.4103/0019-509X.73552 Sir, Approximately 10% of the newborns with Down syndrome (DS) present with leukocytosis and circulating myeloblasts. [1],[2] The 2008 WHO Classification of Tumor of Hematopoietic and Lymphoid Tissue describes myeloid proliferations in DS as a separate entity. It has been subtyped as transient abnormal myelopoiesis (TAM) and acute megakaryoblastic leukemia (AMKL) associated with DS. [3] TAM is commonly present in the first week of life as thrombocytopenia, leukocytosis, and hepatosplenomegaly with megakaryocytic blasts. In a majority of the cases it resolves spontaneously by 3 months of age. [1],[2],[3] However, 20-30% of these children develop AMKL subsequently in 1-3 years. [1],[2],[3] Thus, any DS neonate with elevated white cell counts and circulating blasts is labeled as TAM and followed. TAM develops almost exclusively in newborns with DS or trisomy 21 mosaics. [1],[4] A male neonate was born full-term normal delivered at home (weight 1.85 kg), developed respiratory distress and rash on day 1 and was admitted at neonatal intensive care unit. The mother was 35 years old, multigravida with 2 other normal children. This infant had a dysmorphic facies, flat face, upward slanted palpebral fissure, simian crease with short broad hands, hypotonia, bilateral undescended testes and absence of middle phalanx of the little finger. Peripheral cyanosis, icterus, and hepatosplenomegaly were present. Complete blood count revealed hemoglobin of 19.3 gm%, total leukocyte count of 1,02,300 cells/mm [3] , and a platelet count of 80,000/mm3 . Manual differential count showed 54% blasts, 02% promyelocytes, 04% myelocytes, 02% metamyelocytes, 24% polymorphs, and 14% lymphocytes. There were 50 nucleated red cells per 100 white cells. Bone marrow (BM) examination showed 70% blasts with basophilic cytoplasm and cytoplasmic blebs. Nuclei showed finely dispersed chromatin with 2-3 nucleoli. Blasts expressed CD34, CD41, CD61, CD117, CD33, and CD4. Serum indirect bilirubin was high (10.2 mg%). Repeat total white blood cell counts done on day 4 and day 6 were 75,700 and 49,600 cells per cubic mm, respectively. He had oral and rectal bleeding on day 6. Whole blood and fresh frozen plasma were given; however, he had cardiorespiratory arrest and expired. Autopsy could not be performed. No tissue was available for cytogenetic confirmation of Trisomy 21, but the baby had classical phenotypic features of DS. The usual age of presentation is from the 1st week of life with a range between 1 and 65 days. [2],[5] Our patient presented on day 1 of life. Clinical features of hepatosplenomegaly, skin rash, respiratory distress, thrombocytopenia, and leukocytosis were noted as reported by others. [2],[5] However, a few may be asymptomatic with circulating blasts in the blood. [2],[5] Blasts percentage was more in BM as compared with the peripheral blood, unlike as described in the literature. [1],[2],[3] Blast morphology, myeloperoxidase negativity, and expression of CD41 and CD61 with other myeloid markers confirming its megakaryocytic lineage. [1],[5] Dysmegakaryopoiesis [1] was not seen. Diagnosis of myeloid proliferation in DS was rendered favoring TAM because of DS phenotype, age (one day old), leukocytosis, thrombocytopenia, and circulating blasts of megakaryocytic type. WHO mentions 2 subtypes of myeloid proliferation in DS; however, definite differentiating criteria are not clear. It is necessary to diagnose TAM and differentiate it from AMKL as it requires no treatment except follow-up. References
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