scholarly journals Transient Abnormal Myelopoiesis in a Neonate without Down Syndrome

2018 ◽  
Vol 37 (3) ◽  
pp. 296-299
Author(s):  
Rupesh Shrestha
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Trisomy 21 ◽  
Case Reports ◽  
Spontaneous Remission ◽  
Myeloproliferative Disorder ◽  
Transient Abnormal Myelopoiesis ◽  
Clonal Proliferation ◽  
Leukemic Clone ◽  
Normal Neonate

Transient abnormal myelopoiesis (TAM) also known as transient myeloproliferative disorder (TMD), a unique transient neonatal preleukaemic disorder characterized by clonal proliferation of megakaryoblasts, has been usually described to be associated with Down syndrome neonates. However, there are case reports of it occurring in neonates without Down phenotype, who are either mosaic for trisomy 21 or have trisomy 21 restricted to leukemic clone. This case report presents a case of TAM in a phenotypically normal neonate who presented in respiratory distress with features of tumour lysis syndrome (TLS) immediately after birth who was treated symptomatically and had spontaneous remission within three months.

scholarly journals Transient leukaemia of Down syndrome in a neonate: case report

2019 ◽  
Vol 6 (6) ◽  
pp. 2712
Author(s):  
Baraturam Bhaisara, ◽  
Charusheela Korday ◽  
Minal Wade ◽  
Chandra Kiran Chunchu ◽  
Priyanka Modi ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Myeloid Leukemia ◽  
Spontaneous Remission ◽  
Myeloproliferative Disorder ◽  
Mutant Clone ◽  
Children With Down Syndrome ◽  
Transient Abnormal Myelopoiesis ◽  
Oncogenic Mutations ◽  
Transient Leukemia ◽  
Mutant Cells

Transient leukemia of Down syndrome(TL-DS)  or transient myeloproliferative disorder (TMD) or transient abnormal myelopoiesis (TAM) is a hematologic abnormality characterized by an uncontrolled proliferation of myeloblasts in peripheral blood and bone marrow which characteristically affects newborns and babies with Down syndrome. Children with Down syndrome (Trisomy 21) have a unique predisposition to develop myeloid leukemia of Down syndrome(ML-DS). In majority of cases of TL-DS, the GATA1 mutant clone goes into spontaneous remission without the need for chemotherapy. However, 10-20 % of neonates with TL-DS and silent TL-DS subsequently develop ML-DS in the first 5 years of life due to additional oncogenic mutations acquired by the persistent GATA1 mutant cells. We present here, one such case of Down syndrome with TL-DS in a neonate. 

scholarly journals Investigating the Link Between Trisomy 21 and Acquired Mutations in the GATA1 Gene

The Physician ◽  
2019 ◽  
Vol 6 (1) ◽  
pp. c9
Author(s):  
Triya Chakravorty ◽  
Irene Roberts
Keyword(s):  
Down Syndrome ◽  
Acute Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Trisomy 21 ◽  
Children With Down Syndrome ◽  
Transient Abnormal Myelopoiesis ◽  
Increased Risk ◽  
Leukaemic Cells ◽  
Acute Myeloid

Children with Down syndrome (DS) due to trisomy 21 (T21) are at an increased risk of developing the neonatal preleukaemic disorder transient abnormal myelopoiesis (TAM), which may transform into childhood acute myeloid leukaemia (ML-DS). Leukaemic cells in TAM and ML-DS have acquired mutations in the GATA1 gene. Although it is clear that acquired mutations in GATA1 are necessary for the development of TAM and ML-DS, questions remain concerning the mechanisms of disease.

Recommendations for Diagnosis and Treatment of Children with Transient Abnormal Myelopoiesis (TAM) and Myeloid Leukemia in Down Syndrome (ML-DS)

2021 ◽  
Author(s):  
Sina Al-Kershi ◽  
Richard Golnik ◽  
Marius Flasinski ◽  
Katharina Waack ◽  
Mareike Rasche ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Myeloid Leukemia ◽  
Low Dose ◽  
Early Death ◽  
Spontaneous Remission ◽  
Therapeutic Strategies ◽  
Treatment Protocols ◽  
Transient Abnormal Myelopoiesis ◽  
Cure Rates ◽  
Low Dose Cytarabine

AbstractChildren with Down syndrome are at a high risk of developing transient abnormal myelopoiesis (TAM; synonym: TMD) or myeloid leukemia (ML-DS). While most patients with TAM are asymptomatic and go into spontaneous remission without a need for therapy, around 20% of patients die within the first six months due to TAM-related complications. Another 20–30% of patients progress from TAM to ML-DS. ML-DS patients are particularly vulnerable to therapy-associated toxicity, but the prognosis of relapsed ML-DS is extremely poor – thus, ML-DS therapy schemata must strive for a balance between appropriate efficacy (to avoid relapses) and treatment-related toxicity. This guideline presents diagnostic and therapeutic strategies for TAM and ML-DS based on the experience and results of previous clinical studies from the BFM working group, which have helped reduce the risk of early death in symptomatic TAM patients using low-dose cytarabine, and which have achieved excellent cure rates for ML-DS using intensity-reduced treatment protocols.

Transient Myeloproliferative Disorder Associated with Trisomy 21

2007 ◽  
Vol 26 (1) ◽  
pp. 7-19 ◽  
Author(s):  
Branda Kruger
Keyword(s):  
Trisomy 21 ◽  
Case Reports ◽  
Myeloproliferative Disorder ◽  
Neonatal Nurses ◽  
Transient Myeloproliferative Disorder ◽  
Congenital Leukemia ◽  
Life Threatening ◽  
Dermatologic Manifestations

Transient myeloproliferative disorder (TMD) is a spontaneously resolving condition affecting infants born with trisomy 21 syndrome. Although TMD is rather rare among infants with trisomy 21, its ramifications can become severe enough that neonatal nurses should be aware of the condition, its manifestations, and its management. The spectrum of TMD presentation ranges from subtle blastemia in an otherwise healthy infant to severe, life-threatening expression of the disease. TMD may be a precursor to congenital leukemia—thus, the importance of nurses’ becoming aware of this condition. This article addresses the pathology of TMD, case reports in the literature, potential complications of the disorder, and nursing implications. A case study of an infant with dermatologic manifestations of TMD is presented, including history, differential diagnoses, treatment, and follow-up.

Transient myeloproliferative disorder in neonates without Down syndrome: case report and review

2014 ◽  
Vol 94 (5) ◽  
pp. 456-462 ◽  
Author(s):  
Alexandra Schifferli ◽  
Johann Hitzler ◽  
Deborah Bartholdi ◽  
Karl Heinimann ◽  
Sylvia Hoeller ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Myeloproliferative Disorder ◽  
Transient Myeloproliferative Disorder
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