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Medical Science Monitor Basic Research


Neonatal Acute Lymphoblastic Leukemia with t(9;11) Translocation Presenting as Blueberry Muffin Baby: Successful Treatment by ALL-BFM Induction Therapy, Allogeneic Stem Cell Transplantation from an Unrelated Donor, and PCR-MRD-Guided Post-Transplant Follow-Up

Challenging differential diagnosis, Unusual setting of medical care, Rare disease

Simon Schlegel, Henning Hamm, Alexandra Reichel, Hermann Kneitz, Karen Ernestus, Oliver Andres, Verena G. Wiegering, Matthias Eyrich, Matthias Wölfl, Paul-Gerhardt Schlegel

Hungary Semmelweis School of Medicine, Semmelweis University Budapest, Budapest, Hungary

Am J Case Rep 2020; 21:e927153

DOI: 10.12659/AJCR.927153

Available online: 2020-09-14

Published: 2020-10-27


BACKGROUND: Neonatal acute leukemia is a rare condition. Little is known about its incidence and outcomes, and treatment options have not been standardized.
CASE REPORT: A 3-day old, apparently healthy male newborn was referred to the pediatric intensive care unit with multiple violaceous macules and a few papules on his face and upper trunk. After initial spontaneous regression, the lesions reappeared. Skin biopsy and bone marrow aspirate revealed a diagnosis of acute lymphoblastic leukemia (ALL). ALL induction therapy was initiated on day 24, resulting in morphological remission at the end of induction therapy. ALL chemotherapy was guided by sequential PCR-based monitoring of minimal residual disease (MRD). The patient received a transplant from an unrelated HLA high-resolution matched (10/10 loci) permissive donor. He was followed-up after transplant conducted by sequential PCR-based measurements of MRD in bone marrow.
CONCLUSIONS: Neonatal leukemia often presents as congenital skin lesions known as blueberry muffin rash. ALL induction therapy was started at the end of the neonatal period. Treatment was well-tolerated and effective. Early donor search and PCR-MRD guided treatment surveillance can help to achieve and maintain molecular remission.

Keywords: Exanthema, Neoplasm, Residual, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Term Birth, Transplantation, Homologous, Unrelated Donors