Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias.
We report, for the first time, a non-syndromic infant with a reversible myeloproliferative disease that harbors a germline hereditary thrombopoietin (THPO) gene mutation, a condition that is known to induce familial thrombocytosis at increasing age. In order to investigate whether somatic THPO gene mutations play a role in sporadic pediatric myeloproliferative diseases, we performed a mutation screening of a large representative cohort of pediatric acute myeloid leukemia, myeloid leukemia of Down syndrome, and juvenile myelomonocytic leukemia samples and show that gain-of-function THPO mutations are extremely rare in sporadic pediatric myeloproliferative diseases.
Department of Pediatric Oncology/Hematology, Erasmus MC-Sophia Children's Hospital, Dr Molewaterplein 60, Room Na 16.13, 3015 GJ, Rotterdam, The Netherlands.
Maite E
ME
Houwing
Eva A
EA
Koopman-Coenen
Rogier
R
Kersseboom
Saskia
S
Gooskens
Inge M
IM
Appel
Susan T C J M
ST
Arentsen-Peters
Andrica C H
AC
de Vries
Dirk
D
Reinhardt
Jan
J
Stary
André
A
Baruchel
Valerie
V
de Haas
Marjolein
M
Blink
Rob H
RH
Lopes Cardozo
Rob
R
Pieters
C
C
Michel Zwaan
Marry M
MM
van den Heuvel-Eibrink
D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D007951:Leukemia, Myeloid / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D022821:RNA Splice Sites; D013926:Thrombopoietin / Q000235:genetics*
D022821:RNA Splice Sites; D013926:Thrombopoietin