Belgian Journal of Paediatrics
Neonatal acute myeloid leukemia with KMT2A/MLLT3 rearrangement revealed by a Blueberry Muffin syndrome
Vol. 24 No. 3 (2022), Case reports
Vol. 24 No. 3 (2022)

Neonatal acute myeloid leukemia with KMT2A/MLLT3 rearrangement revealed by a Blueberry Muffin syndrome

Case reports
Published 2022-12-12 — Updated on 2023-01-17
Elisabeth Henrion
Departement of Neonatal Intensive Care, CHR Sambre et Meuse, 185 Avenue Albert 1E, 5000 Namur, Belgium
Julie Longton
Departement of Pediatric Hemato-oncology, Hôpital de la Citadelle, 1 Boulevard du Douzième de Ligne and Departement of Pediatric Hemato-oncology, CHU de Liège, Sart Tilman, 1 Avenue de l’hôpital, 4000 Liège
Sophie Gatineau
Departement of Pediatric Hemato-oncology, Hôpital de la Citadelle, 1 Boulevard du Douzième de Ligne and Departement of Pediatric Hemato-oncology, CHU de Liège, Sart Tilman, 1 Avenue de l’hôpital, 4000 Liège
Benoit Florkin
Departement of Pediatric Hemato-oncology, Hôpital de la Citadelle, 1 Boulevard du Douzième de Ligne, 4000 Liège, Belgium
Tzanca Vatcheva
Departement of Neonatal Intensive Care, CHR Sambre et Meuse, 185 Avenue Albert 1E, 5000 Namur, Belgium
Anne-Sophie Truant
Departement of Neonatal Intensive Care, CHR Sambre et Meuse, 185 Avenue Albert 1E, 5000 Namur, Belgium
Anne Mostaert
Departement of Neonatal Intensive Care, CHR Sambre et Meuse, 185 Avenue Albert 1E, 5000 Namur, Belgium
Ludovic Legros
Departement of Neonatal Intensive Care, CHR Sambre et Meuse, 185 Avenue Albert 1E, 5000 Namur, Belgium
Canelle Koutny
Departement of Neonatal Intensive Care, CHR Sambre et Meuse, 185 Avenue Albert 1E, 5000 Namur, Belgium

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Keywords

blueberry Muffin syndrome
neonatal leukemia
leukemia cutis
KMT2A rearrangement
case report

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How to Cite

Henrion, E., Longton, J., Gatineau, S., Florkin, B., Vatcheva, T., Truant, A.-S., Mostaert, A., Legros, L., & Koutny, C. (2023). Neonatal acute myeloid leukemia with KMT2A/MLLT3 rearrangement revealed by a Blueberry Muffin syndrome. Belgian Journal of Paediatrics, 24(3), 205–208. Retrieved from http://www.belgjpaediatrics.com/index.php/bjp/article/view/38 (Original work published December 12, 2022)
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Abstract

Blueberry Muffin syndrome is a rare skin manifestation of extramedullary hematopoiesis in neonates. The differential diagnosis  includes congenital infections, intrauterine anemias and, more rarely, neoplastic pathologies.

We report the case of a newborn showing birth lesions suggestive of this syndrome. In the absence of associated clinical signs and abnormalities in the blood count, diagnostic investigations were completed by a skin biopsy and a bone marrow aspiration which led to the diagnosis of acute myeloid leukemia with a KMT2A/MLLT3 rearrangement. As leukemic burden was low, a watch-and-wait approach was chosen, until chemotherapy needed to be initiated at eight weeks of life.

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