scholarly journals Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots

2020 ◽  
Vol 131 (1-2) ◽  
pp. 135-146
Author(s):  
Federica Conte ◽  
Eva Morava ◽  
Nurulamin Abu Bakar ◽  
Saskia B. Wortmann ◽  
Anne Jonge Poerink ◽  
...  
Keyword(s):  
Early Presentation ◽  
Blood Spots ◽  
Metabolic Management ◽  
Neonatal Blood ◽  
Neonatal Blood Spots

scholarly journals Backtracking leukemia to birth: Identification of clonotypic gene fusion sequences in neonatal blood spots

1997 ◽  
Vol 94 (25) ◽  
pp. 13950-13954 ◽  
Author(s):  
K. B. Gale ◽  
A. M. Ford ◽  
R. Repp ◽  
A. Borkhardt ◽  
C. Keller ◽  
...  
Keyword(s):  
Gene Fusion ◽  
Blood Spots ◽  
Neonatal Blood ◽  
Neonatal Blood Spots

scholarly journals Exome Sequencing of Neonatal Blood Spots and the Identification of Genes Implicated in Bronchopulmonary Dysplasia

2015 ◽  
Vol 192 (5) ◽  
pp. 589-596 ◽  
Author(s):  
Jingjing Li ◽  
Kun-Hsing Yu ◽  
John Oehlert ◽  
Laura L. Jeliffe-Pawlowski ◽  
Jeffrey B. Gould ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Bronchopulmonary Dysplasia ◽  
Blood Spots ◽  
Neonatal Blood ◽  
Neonatal Blood Spots

Detection of clonotypic IGH and TCR rearrangements in the neonatal blood spots of infants and children with B-cell precursor acute lymphoblastic leukemia

Blood ◽  
2000 ◽  
Vol 96 (1) ◽  
pp. 264-268 ◽  
Author(s):  
Tomohito Yagi ◽  
Shigeyoshi Hibi ◽  
Yasuhiro Tabata ◽  
Kikuko Kuriyama ◽  
Tomoko Teramura ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
B Cell ◽  
Lymphoblastic Leukemia ◽  
Infants And Children ◽  
Nucleotide Sequencing ◽  
Cell Precursor ◽  
Guthrie Card ◽  
Blood Spots ◽  
Neonatal Blood ◽  
Neonatal Blood Spots

Abstract An attractive hypothesis is that in utero exposure of hematopoietic cells to oncogenic agents can induce molecular changes leading to overt acute lymphoblastic leukemia (ALL) in infants and perhaps older children as well. Although supported by studies of identical infant twins with concordant leukemia, and of nontwined patients withMLL gene rearrangements, this concept has not been extended to the larger population of B-lineage ALL patients who lack unique nonconstitutive mutations or abnormally rearranged genes. We therefore sought to demonstrate a prenatal origin for 7 cases of B-cell precursor ALL (either CD10+ or CD10−) that had been diagnosed in infants and children 14 days to 9 years of age. Using a polymerase chain reaction–based assay, we identified the same clonotypic immunoglobulin heavy-chain complementarity determining region or T-cell receptor VD2-DD3 sequences in the neonatal blood spots (Guthrie card) and leukemic cell DNAs of 2 infants with CD10− ALL and 2 of the 5 older patients with CD10+ ALL. Nucleotide sequencing showed a paucity of N or P regions and shortened D germ line and conserved J sequences, indicative of cells arising from fetal hematopoiesis. Our findings strongly suggest a prenatal origin for some cases of B-cell precursor ALL lacking specific clonotypic abnormalities.

scholarly journals Clone-specific secondary aberrations are not detected in neonatal blood spots of children with ETV6-RUNX1-positive leukemia

Haematologica ◽  
2013 ◽  
Vol 98 (9) ◽  
pp. e108-e110 ◽  
Author(s):  
M. Morak ◽  
C. Meyer ◽  
R. Marschalek ◽  
G. Mann ◽  
O. A. Haas ◽  
...  
Keyword(s):  
Blood Spots ◽  
Neonatal Blood ◽  
Neonatal Blood Spots

NOTCH1 mutation can be an early, prenatal genetic event in T-ALL

Blood ◽  
2008 ◽  
Vol 111 (1) ◽  
pp. 376-378 ◽  
Author(s):  
Minenori Eguchi-Ishimae ◽  
Mariko Eguchi ◽  
Helena Kempski ◽  
Mel Greaves
Keyword(s):  
Chromosomal Abnormalities ◽  
Lymphoblastic Leukemia ◽  
Twin Studies ◽  
Genetic Event ◽  
Blood Spots ◽  
Neonatal Blood ◽  
Polymerase Chain ◽  
Neonatal Blood Spots ◽  
Polymerase Chain Reaction Primers ◽  
Notch1 Mutations

NOTCH1 mutations are common in T-lineage acute lymphoblastic leukemia (T-ALL). Twin studies and retrospective screening of neonatal blood spots provide evidence that fusion genes and other chromosomal abnormalities associated with pediatric leukemias can originate prenatally. Whether this is also the case for NOTCH1 mutations is unknown. Eleven cases of T-ALL were screened for NOTCH1 mutations and 4 (36%) had mutations in either the heterodimerization (HD) or proline glutamic acid/serine/threonine (PEST) domains. Of these 4, 3 could be amplified by mutation-specific polymerase chain reaction primers. In one of these 3, with the highest sensitivity, NOTCH1 mutation was detected in neonatal blood spots. In this patient, the blood spot was negative for SIL-TAL1 fusion, present concomitant with NOTCH1 mutation, in the diagnostic sample. We conclude that NOTCH1 can be an early or initiating event in T-ALL arising prenatally, to be complemented by a postnatal SIL-TAL1 fusion.

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