Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21

Nicole Baca; Pedro A Sanchez-Lara; Rhona Schreck; Celeste C Eno; Fataneh Majlessipour

doi:10.1101/mcs.a006126

Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21

Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006126. doi: 10.1101/mcs.a006126. Print 2021 Dec.

Authors

Nicole Baca^{1

2}, Pedro A Sanchez-Lara^{1

2}, Rhona Schreck^{1

2}, Celeste C Eno¹, Fataneh Majlessipour^{1

2}

Affiliations

¹ Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
² David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90027, USA.

Abstract

Trisomy 21 is a common congenital disorder with well-documented clinical manifestations, including an increased risk for the transient myeloproliferative disorder as a neonate and leukemia in childhood and adolescence. Transient myeloproliferative disorder is only known to occur in hematopoietic cells with trisomy 21. Children with mosaic trisomy 21 also have a risk for hematological malignancies. We present a nondysmorphic neonate, with a negative noninvasive prenatal screening of maternal blood for trisomy 21, who came to medical attention because of ruddy skin. He was found to have mild polycythemia, thrombocytopenia, and developed peripheral blasts. His clinical presentation was consistent with transient myeloproliferative disorder, which is only seen with trisomy 21. Cytogenetic studies of peripheral blood are positive for mosaic trisomy 21.

Keywords: extramedullary hematopoiesis; hematological neoplasm.

Publication types

Case Reports

MeSH terms

Chromosomes, Human, Pair 21
Down Syndrome*
Female
Humans
Male
Mosaicism
Myeloproliferative Disorders*
Pregnancy
Trisomy
Uniparental Disomy

Supplementary concepts

Chromosome 21, uniparental disomy of