Transient abnormal myelopoiesis in non‐<scp>D</scp>own syndrome neonate

Ohkawa, Teppei; Miyamoto, Satoshi; Sugie, Manabu; Tomizawa, Daisuke; Imai, Kohsuke; Nagasawa, Mitsuru; Morio, Tomohiro; Mizutani, Shuki; Takagi, Motoki

doi:10.1111/ped.12500

Cited by 5 publications

(3 citation statements)

References 11 publications

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“…performed a literature review of 14 patients with TAM that was not associated with DS and reported that GATA1 mutations were analyzed in only eight patients, all of whom had GATA1 mutations as well as trisomy 21 in leukemic blasts, indicating that the biology of TAM without constitutional trisomy 21 was similar to that of TAM with constitutional trisomy 21/DS . After the report of Rozen et al., there have also been several case reports of TAM without constitutional trisomy 21 but harboring both trisomy 21 and GATA1 mutations in leukemic blasts . Here, we present the cytogenetic findings and GATA1 mutation status of a series of 17 patients with TAM and nonconstitutional trisomy 21 who had been tested for GATA1 mutations at a single institute.…”

Section: Discussionmentioning

confidence: 83%

“…19 After the report of Rozen et al, there have also been several case reports of TAM without constitutional trisomy 21 but harboring both trisomy 21 and GATA1 mutations in leukemic blasts. [21][22][23][24] Here, we present the cytogenetic findings and GATA1 mutation status of a series of 17 patients with TAM and nonconstitutional trisomy 21 who had been tested for GATA1 mutations at a single institute. All 17 patients harbored both trisomy 21 and GATA1 mutations in leukemic blasts, clearly showing that the molecular pathogenesis is common between TAM with and without constitutional trisomy 21.…”

Section: Discussionmentioning

confidence: 99%

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Clinical, cytogenetic, and molecular analyses of 17 neonates with transient abnormal myelopoiesis and nonconstitutional trisomy 21

Yuzawa

Terui

Toki

et al. 2020

Pediatric Blood & Cancer

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Background Transient abnormal myelopoiesis (TAM) is a unique myeloproliferative disorder that occurs in neonates with constitutional trisomy 21/Down syndrome (DS). Although TAM also develops in neonates without constitutional trisomy 21, the clinical, cytogenetic, and molecular characteristics of those patients are not fully understood. Procedure We retrospectively evaluated the clinical and cytogenetic findings and GATA1 mutation status of 17 neonates with TAM and nonconstitutional trisomy 21 tested for GATA1 mutations at our institute, and compared the findings with those of 64 neonates with TAM and constitutional trisomy 21/DS. Results DS clinical features were observed in five of the 17 (29%) patients. In all patients, both trisomy 21 and GATA1 mutations were detected in diagnostic samples. Over a median follow‐up of 33 (range, 0‐139) months, early death (< 6 months of age) occurred in four patients (24%). Overall and event‐free survivals were not significantly different between the patients with TAM and nonconstitutional trisomy 21 and those with TAM and constitutional trisomy 21/DS (five‐year overall survival: 76% ± 10% vs 53% ± 13%, P = 0.40; five‐year event‐free survival: 55% ± 13% vs 48% ± 12%, P = 0.90). The five‐year cumulative incidence of progression to myeloid leukemia of DS was also similar between the groups (21% vs 24%, P = 0.80). Conclusions Patients with TAM and nonconstitutional trisomy 21 exhibited similar biology and outcomes to those with TAM and constitutional trisomy 21/DS. The possibility of TAM should be considered even in phenotypically normal neonates with TAM symptoms, for appropriate management.

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Section: Discussionmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 99%

Clinical, cytogenetic, and molecular analyses of 17 neonates with transient abnormal myelopoiesis and nonconstitutional trisomy 21

Yuzawa

Terui

Toki

et al. 2020

Pediatric Blood & Cancer

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“…In the event that a newborn with a normal karyotype and trisomy 21 only in blasts presents symptoms typical of congenital leukemia, the best approach is to ‘wait and see’ and to perform GATA1 gene sequencing as soon as possible. If the patient's condition deteriorates, it may be advisable to commence low-dose chemotherapy (17). The presence of a GATA1 mutation can confirm a diagnosis of TAM and therefore determine the non-therapeutic approach.…”

Section: Discussionmentioning

confidence: 99%

Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis

Salvatori¹,

Foligno²,

Sirleto³

et al. 2016

Oncology Letters

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Congenital leukemia is rare disease with an incidence of one to five cases per million births. Transient abnormal myelopoiesis (TAM), also called transient myeloproliferative disorder, is a pre-leukemia disorder that may occur in Down syndrome (DS) or non-DS infants. TAM may enter spontaneous remission; however, continual monitoring is required, as this disorder has been observed to develop into acute megakaryoblastic leukemia in 16–30% of cases. In the literature, 16 cases of TAM in non-DS infants have been reported. The case presented in the current study is, to the best of our knowledge, the first case of an Italian non-DS newborn presenting with clinical manifestations of acute leukemia at five days after birth, exhibiting a normal karyotype, trisomy 21 only in blast cells, and spontaneous remission. Chromosomal analyses on peripheral blood cells, bone marrow cells and dermal fibroblasts were conducted using a G-banding technique, and fluorescence in situ hybridization (FISH) was used to identify the critical regions of DS. Amplification of GATA binding protein 1 (GATA1) exon 2 genomic DNA was performed using polymerase chain reaction. Cytogenetic analysis of 50 peripheral blood cells and dermal fibroblasts from the patient revealed a normal karyotype: 46, XX. Conversely, cytogenetic analysis of the patient's bone marrow revealed an abnormal karyotype 47, XX+21. In order to investigate this result, FISH was performed, which identified the presence of three signals in 70% of the cells and two signals in 30% of bone marrow cells. GATA1 sequencing revealed the substitution of a single base (c.150delG) in exon 2. Seven months after the initial analysis, FISH and cytogenetic analyses of the stimulated/unstimulated peripheral blood cells and bone marrow cells were performed, revealing that each exhibited diploid signals, as observed in a normal karyotype.

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A Case of Transient Myeloproliferative Disorder Associated with Clonal Trisomy 21 in a Chromosomally Normal Newborn

Park

Hong

Kong

2018

Clin Pediatr Hematol Oncol

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Transient abnormal myelopoiesis in non‐Down syndrome neonate

Cited by 5 publications

References 11 publications

Clinical, cytogenetic, and molecular analyses of 17 neonates with transient abnormal myelopoiesis and nonconstitutional trisomy 21

Clinical, cytogenetic, and molecular analyses of 17 neonates with transient abnormal myelopoiesis and nonconstitutional trisomy 21

Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis

A Case of Transient Myeloproliferative Disorder Associated with Clonal Trisomy 21 in a Chromosomally Normal Newborn

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