Down's Syndrome Associated With a Myeloproliferative Disorder

Okada, H; Liu, Paul I.; Hoshino, Takashi; Yamamoto, Tetsuya; Yamaoka, Hideki; Murakami, Marohito

doi:10.1001/archpedi.1972.02110130109018

Cited by 14 publications

(4 citation statements)

References 7 publications

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“…Fujinami et a1 (1961) reported a 28/12-year-old Japanese case which was originally described as 'megakaryocytic myelosis' but the overall features could be interpreted as those of MMM. Likewise, a 14-month-old infant reported by Okada et al (1972) and 1 of 5 leukaemic Down's syndrome children by Goh et a1 (1978) could be considered to be similar to ours. These suggest that in Down's syndrome not only the incidence of leukaemia and neonatal leukaemia-like abnormal myelopoiesis but also the incidence of myelofibrosis would be high, provided marrow biopsy was performed more liberally.…”

Section: Discussionsupporting

confidence: 87%

Primary Myelofibrosis with Myeloid Metaplasia and Cytogenetically Abnormal Clones in 2 Children with Down's Syndrome

Ueda

Kawaguchi

Kodama

et al. 1981

Scandinavian Journal of Haematology

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2 children with Down's syndrome showed severe anaemia, leucocytosis with blastic cells, thrombocytopenia and hepatosplenomegaly. Bone marrow aspirations were near-dry tap and marrow biopsy revealed primary myelofibrosis with myeloid metaplasia (MMM). Their course was short with a blood picture similar to that of leukaemia. They expired 2 months and 2% months after diagnosis, respectively. The cases were thought to represent an acute childhood variant of MMM. Cytogenetic study of circulating white cells by 24 h culture without phytohaemagglutinin stimulation revealed aneuploidy in both cases, the first case showing marked aneuploidy with a predominant karyotype of 50,XX,+8,+19,+19,+21 and the second case a mosaic of 47,XX,+G/48,M,+G,+G. The karyotype of phytohaemagglutinin stimulated lymphocytes was 47,XX,+G in both cases. These findings suggest that the abnormal karyotypes are those of circulating blastic cells which are abnormal clones of haematopoietic cells responsible for MMM. In Down's syndrome, MMM might not be so rare as reported.

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Section: Discussionsupporting

confidence: 87%

Primary Myelofibrosis with Myeloid Metaplasia and Cytogenetically Abnormal Clones in 2 Children with Down's Syndrome

Ueda

Kawaguchi

Kodama

et al. 1981

Scandinavian Journal of Haematology

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“…The investigations focused in particular on the 10-to 20-fold risk of developing acute leukemia when compared with the normal population [3]. Furthermore, in the first year of life, children with Morbus Down may develop a transient leukemoid reaction, also called transient abnormal myelopoiesis, transient leukemia, or transient myeloproliferative disorder (TMD) [4][5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Down syndrome, transient myeloproliferative disorder, and infantile liver fibrosis

Schwab

Niemeyer²,

Schwarzer³

1998

Med. Pediatr. Oncol.

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“…A review of the literature suggests that other cases of acute leukaemia associated with Down's syndrome were also mega karyoblastic [21], Thus, several children with Down's syndrome displayed an increase in peri pheral blood blasts, increased marrow fi brosis and proliferation of often morpho logically atypical megakaryocytes in the bone marrow and in other organs detected at post-mortem [4,11,14,17,25,26,31]. In 1 case the blasts were identified as me gakaryoblasts by cell marker analysis [4], There are also 6 reported cases of Down's syndrome and congenital leu kaemia with features of acute megakaryo blastic leukaemia [6,9,19,29,32], These showed hepatosplenomegaly, a leuco erythroblastic blood film and a high peri pheral blood blast count.…”

Section: Discussionmentioning

confidence: 99%