Transient abnormal myelopoiesis without constitutional Down syndrome

被引：0

作者：

Kairiene, Igne ^{[1
]}

Dirse, Vaidas ^{[2
,3
]}

Mickys, Ugnius ^{[4
]}

Muleviciene, Audrone ^{[1
]}

Vyas, Paresh ^{[5
,6
]}

Rascon, Jelena ^{[1
,7
]}

机构：

[1] Vilnius Univ Hosp Santaros Klin, Ctr Pediat Oncol & Hematol, Santariskiu Str 4, LT-08406 Vilnius, Lithuania

[2] Vilnius Univ Hosp Santaros Klin, Hematol Oncol & Transfus Med Ctr, Vilnius, Lithuania

[3] Vilnius Univ, Clin Internal Med Family Practice & Oncol, Fac Med, Vilnius, Lithuania

[4] Vilnius Univ Hosp Santaros Klin, Natl Ctr Pathol, Vilnius, Lithuania

[5] Univ Oxford, MRC Mol Haematol Unit, BRC Haematol Theme,Radcliffe Dept Med, Oxford Biomed Res Ctr,Oxford Ctr Haematol,Weather, Oxford, England

[6] Oxford Univ Hosp NHS Trust, Dept Haematol, Oxford, England

[7] Vilnius Univ, Fac Med, Vilnius, Lithuania

来源：

JOURNAL OF PEDIATRIC AND NEONATAL INDIVIDUALIZED MEDICINE | 2020年 / 9卷 / 01期

关键词：

Transient abnormal myelopoiesis; congenital leukemia; Down syndrome; myelodysplastic syndrome; MYELOPROLIFERATIVE DISORDER; SPONTANEOUS REMISSION; LEUKEMIA; TRISOMY-21; CHILDREN; NEWBORN;

D O I：

10.7363/090104

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Transient abnormal myelopoiesis (TAM) is a unique entity that usually occurs in children with Down syndrome (DS) or with trisomy 21 mosaicism. The somatic GATA1 mutation is a distinct feature of TAM. At presentation, TAM can resemble congenital leukemia (CL), which unlike TAM has an extremely poor prognosis and requires prompt therapeutic interventions. Therefore, correct and timely distinction between the two entities is crucial. We report a case of a phenotypically normal infant diagnosed with CL during the first weeks of life that retrospectively was reassessed as TAM. No acute myeloid leukemia (AML) specific mutations were found except for trisomy 21 confined exclusively to leukemic blasts. Retrospectively GATA1 mutation was also detected in malignant cells, but somatic genome appeared to be intact.

引用

页数：7

共 20 条

[1] Congenital acute lymphoblastic leukemia: Report of a case with leukemia cutis [J].

Akcakus, M ;

Patiroglu, T ;

Deniz, K ;

Cetin, N ;

Ozdemir, MA ;

Kala, M .

CLINICAL PEDIATRICS, 2004, 43 (05) :487-490

[2] Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study [J].

Alter, Blanche P. ;

Giri, Neelam ;

Savage, Sharon A. ;

Peters, June A. ;

Loud, Jennifer T. ;

Leathwood, Lisa ;

Carr, Ann G. ;

Greene, Mark H. ;

Rosenberg, Philip S. .

BRITISH JOURNAL OF HAEMATOLOGY, 2010, 150 (02) :179-188

[3] Childhood Myelodysplastic Syndrome [J].

Chatterjee, Tathagata ;

Choudhry, V. P. .

INDIAN JOURNAL OF PEDIATRICS, 2013, 80 (09) :764-771

[4] Spontaneous resolution of a single lesion of myeloid leukemia cutis in an infant: Case report and discussion [J].

D'Orazio, John A. ;

Pulliam, Joseph F. ;

Moscow, Jeffrey A. .

PEDIATRIC HEMATOLOGY AND ONCOLOGY, 2008, 25 (05) :457-468

[5] Spontaneous remission of congenital leukemia [J].

Dinulos, JG ;

Hawkins, DS ;

Clark, BS ;

Francis, JS .

JOURNAL OF PEDIATRICS, 1997, 131 (02) :300-303

[6]

Ergin H, 2013, PEDIAT NEONATOL, V56, P271

[7] Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971 [J].

Gamis, Alan S. ;

Alonzo, Todd A. ;

Gerbing, Robert B. ;

Hilden, Joanne M. ;

Sorrell, April D. ;

Sharma, Mukta ;

Loew, Thomas W. ;

Arceci, Robert J. ;

Barnard, Dorothy ;

Doyle, John ;

Massey, Gita ;

Perentesis, John ;

Ravindranath, Yaddanapudi ;

Taub, Jeffrey ;

Smith, Franklin O. .

BLOOD, 2011, 118 (26) :6752-6759

[8] Blueberry muffin baby with acute myeloid leukemia and spontaneous remission [J].

Hsiao, Ya-Wen ;

Tseng, Fang-Wen ;

Shih, Yi-Ling ;

Kuo, Tseng-tong ;

Jaing, Tang-Her ;

Hui, Rosaline Chung-Yee .

DERMATOLOGICA SINICA, 2011, 29 (02) :47-49

[9] Acute Megakaryoblastic Leukemia Without GATA1 Mutation After Transient Myeloproliferative Disorder in an Infant Without Down Syndrome [J].

Inaba, Hiroto ;

Londero, Margherita ;

Maurer, Scott H. ;

Onciu, Mihaela ;

Ge, Yubin ;

Taub, Jeffrey W. ;

Rubnitz, Jeffrey E. ;

Raimondi, Susana C. .

JOURNAL OF CLINICAL ONCOLOGY, 2011, 29 (09) :E230-E233

[10] Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1 [J].

Li, Z ;

Godinho, FJ ;

Klusmann, JH ;

Garriga-Canut, M ;

Yu, CN ;

Orkin, SH .

NATURE GENETICS, 2005, 37 (06) :613-619

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