Related Experiment Video
Updated: Jun 14, 2026
08:12
Transduction-Transplantation Mouse Model of Myeloproliferative Neoplasm
Published on: December 22, 2016
Transient myeloproliferative disorder with trisomy 12
Biswanath Basu1, Vineeta Gupta
1Department of Paediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India. basuv3000@yahoo.co.in
Pediatric Hematology and Oncology
|April 7, 2010
Summary
This study details the first reported case of transient myeloproliferative disorder (TMD) in a newborn with trisomy 12. The condition resolved spontaneously, highlighting the importance of distinguishing TMD from leukemia in neonates.
Area of Science:
- Neonatal Hematology
- Clinical Genetics
- Pediatric Oncology
Background:
- Transient myeloproliferative disorder (TMD) is a hematologic abnormality often seen in neonates, typically associated with Down syndrome (trisomy 21).
- Accurate diagnosis is crucial as TMD usually resolves spontaneously, unlike true leukemic processes.
Observation:
- A neonate presented with respiratory distress and a high leukocyte count with 91% blasts.
- Karyotype analysis revealed trisomy 12, and GATA1 gene mutation was detected.
- This is the first reported case of TMD associated with trisomy 12.
Findings:
- The neonate's blast count normalized spontaneously within three weeks, confirming a diagnosis of TMD.
- The presence of trisomy 12 and a GATA1 mutation in this case expands the known genetic associations of TMD.
- This case underscores the diagnostic challenges in differentiating TMD from acute leukemia in newborns.
Implications:
- Clinicians must consider TMD in neonates presenting with high blast counts, even in the absence of trisomy 21.
- Recognizing TMD prevents unnecessary aggressive treatment for leukemia, as supportive care is usually sufficient.
- This case highlights the need for further research into the diverse genetic underpinnings and clinical presentations of TMD.
