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trisomy 21-associated neonatal transient myeloproliferative disorder

Tuesday 9 November 2010

Approximately 10% of DS newborns present with a hematological disorder known as "transient abnormal myelopoiesis" (TAM).

Genetic alterations (presence of GATA1 mutations) and morphological and laboratory findings may be the same as typical trisomy 21-associated AML.

In 70-80% of cases, TAM resolves spontaneously over a period of several weeks to 3 months, whilst in the remaining cases a non-transient acute myeloid leukemia, usually of megakaryoblastic type, develops 1 to 3 years later.

Indications for chemotherapy in TAM are not clearly defined.

Clinical synopsis

- vesiculopustular eruption (20666188)

See also

- trisomy 21-associated neonatal hemochromatosis
- transient abnormal myelopoiesis

  • neonatal transient abnormal myelopoiesis

- transient myeloproliferative disorders

  • neonatal transient myeloproliferative disorder


- New classification of acute myeloid leukemia and precursor-related neoplasms: changes and unsolved issues. Falini B, Tiacci E, Martelli MP, Ascani S, Pileri SA. Discov Med. 2010 Oct;10(53):281-92. PMID: 21034669

- Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia. Kanezaki R, Toki T, Terui K, Xu G, Wang R, Shimada A, Hama A, Kanegane H, Kawakami K, Endo M, Hasegawa D, Kogawa K, Adachi S, Ikeda Y, Iwamoto S, Taga T, Kosaka Y, Kojima S, Hayashi Y, Ito E. Blood. 2010 Aug 20. PMID: 20729467

- Vesiculopustular eruption in a neonate with trisomy 21 syndrome as a clue of transient myeloproliferative disorders. Piersigilli F, Diociaiuti A, Boldrini R, Auriti C, Curci M, El Hachem M, Seganti G. Cutis. 2010 Jun;85(6):286-8.PMID: 20666188