Table 1.
Backtracking studies of childhood leukemia.
| Study, year | Disease | Age at diagnosis, range | N screened | N positive | % Positive | Population | Starting material | Screen | Detection method |
|---|---|---|---|---|---|---|---|---|---|
| ETV6/RUNX1 [t(12;21)] | |||||||||
| Wiemels, 1999 (49) | B-ALL | 2–5 years | 11 | 8 | 73 | Italy and United Kingdom | Newborn blood spot | DNA | LDI-PCR |
| Maia, 2001 (50) | B-ALL | 21 months | 2 | 2 | 100 | nr | Newborn blood spot | DNA | PCR |
| Taub, 2002 (47) | B-ALL | 2 years 11 months | 1 | 1 | 100 | United States (Michigan) | Newborn blood spot | DNA | PCR |
| Hjalgrim, 2002 (51) | B-ALL | 2–6 years | 9 | 3 | 33 | Denmark | Newborn blood spot | DNA | nPCR |
| McHale, 2003 (52) | B-ALL | 2–6 years | 14 | 7 | 50 | United States (California) | Newborn blood spot | DNA | LDI-PCR |
| Maia, 2004 (53) | B-ALL | 5–11 years | 7 | 3 | 43 | United Kingdom, Italy, Germany, United States, New Zealand | Newborn blood spot | DNA | LDI-PCR |
| Burjanivova, 2006 (54) | B-ALL | 3–5 years | 3 | 1 | 33 | Czech | Newborn blood spot | DNA | PCR |
| Gruhn, 2008 (48) | B-ALL | 1–6 years | 6 | 3 | 50 | Germany | Newborn blood spot | DNA | snPCR |
| Taylan, 2019 (55) | ALL | 1–4 years | 4 | 0 | 0 | Sweden | Newborn blood spot | DNA | dPCR |
| KMT2A/AFF1 [t(4;11)] | |||||||||
| Gale, 1997 (56) | B-ALL | 5 months to 2 years | 3 | 3 | 100 | United Kingdom | Newborn blood spot | DNA | PCR |
| Fasching, 2000 (57) | B-ALL | 6 months to 2 years | 2 | 2 | 100 | Austria | Newborn blood spot | DNA | PCR |
| Yagi, 2000 (45) | B-ALL | 1–2 months | 2 | 2 | 100 | nr | Newborn blood spot | DNA | nPCR |
| Taub, 2002 (47) | B-ALL | 10 years | 1 | 1 | 100 | United States (Michigan) | Newborn blood spot | DNA | PCR |
| Maia, 2004 (53) | ALL | 5–8 years | 3 | 1 | 33 | United Kingdom, Italy, Germany, United States, New Zealand | Newborn blood spot | DNA | LDI-PCR |
| Gruhn, 2008 (48) | B-ALL | 2 years 5 months | 1 | 0 | 0 | Germany | Newborn blood spot | DNA | snPCR |
| Other KMT2A-r | |||||||||
| Maia, 2004 (53) | ALL | 5 years | 1 | 0 | 0 | United Kingdom, Italy, Germany, United States, New Zealand | Newborn blood spot | DNA | LDI-PCR |
| Maia, 2004 (53) | AML | 3 years | 1 | 0 | 0 | United Kingdom, Italy, Germany, United States, New Zealand | Newborn blood spot | DNA | LDI-PCR |
| Burjanivova, 2006 (54) | AML | 1–5 years | 3 | 0 | 0 | Czech | Newborn blood spot | DNA | PCR |
| Taylan, 2019 (55) | ALL | 1 month | 1 | 1 | 100 | Sweden | Newborn blood spot | DNA | dPCR |
| Hyperdiploidy | |||||||||
| Maia, 2004 (58) | ALL | 1–10 years | 11 | 1 | 9 | nr | Cord blood | DNA | Taqman |
| Yagi, 2000 (45) | B-ALL | 2 years | 1 | 1 | 100 | nr | Newborn blood spot | DNA | nPCR |
| Taub, 2002 (47) | B-ALL | 2–9 years | 5 | 5 | 100 | United States (Michigan) | Newborn blood spot | DNA | PCR |
| Gruhn, 2008 (48) | ALL | 2–14 years | 6 | 5 | 83 | Germany | Newborn blood spot | DNA | snPCR |
| Panzer-Grumayer, 2002 (46) | B-ALL | 2 years | 1 | 1 | 100 | Austria | Newborn blood spot | DNA | nPCR |
| RUNX1/RUNX1T1 [t(8;21)] | |||||||||
| Burjanivova, 2006 (54) | AML | 9–14 years | 2 | 0 | 0 | Czech | Newborn blood spot | DNA | PCR |
| Wiemels, 2002 (37) | AML | 3–12 years | 10 | 5 | 50 | United Kingdom and United States (California) | Newborn blood spot | DNA | PCR |
| TCF3/PBX1 [t(1;19)] | |||||||||
| Taub, 2002 (47) | B-ALL | 13 years | 1 | 1 | 100 | United States (Michigan) | Newborn blood spot | DNA | PCR |
| Wiemels, 2002 (59) | B-ALL | 1–12 years | 15 | 2 | 13 | United States (California) | Newborn blood spot | DNA | LDI-PCR |
| BCR/ABL [t(9;22)] | |||||||||
| Gruhn, 2008 (48) | B-ALL | 1 year | 2 | 0 | 0 | Germany | Newborn blood spot | DNA | snPCR |
| Cazzaniga, 2011 (60) | ALL | 5 years | 1 | 1 | 100 | United Kingdom | Newborn blood spot | DNA | PCR |
| PML/RARA [t(15;17)] | |||||||||
| McHale, 2003 (61) | AML | 10 years | 2 | 1 | 50 | United States (California) | Newborn blood spot | DNA | LDI-PCR |
| Burjanivova, 2006 (54) | AML | 7–13 years | 4 | 0 | 0 | Czech | Newborn blood spot | DNA | PCR |
| Other | |||||||||
| Fasching, 2000 (57) | B-ALL | 4 years 8 months | 1 | 1 | 100 | Austria | Newborn blood spot | DNA | PCR |
| Fasching, 2000 (57) | T-ALL | 2 years | 2 | 2 | 100 | Austria | Newborn blood spot | DNA | PCR |
| Yagi, 2000 (45) | B-ALL | 1–9 years | 4 | 1 | 25 | nr | Newborn blood spot | DNA | nPCR |
| Taub, 2002 (47) | B-ALL | 18 months to 9 years | 9 | 4 | 44 | United States (Michigan) | Newborn blood spot | DNA | PCR |
| McHale, 2003 (61) | AML | 9–14 years | 2 | 1 | 50 | United States (California) | Newborn blood spot | DNA | LDI-PCR |
| Burjanivova, 2006 (54) | B-ALL | 1–4 years | 9 | 2 | 22 | Czech | Newborn blood spot | DNA | PCR |
| Gruhn, 2008 (48) | B-ALL | 1–13 years | 17 | 11 | 65 | German | Newborn blood spot | DNA | snPCR |
| Burjanivova, 2006 (54) | AML | 2–8 years | 4 | 0 | 0 | Czech | Newborn blood spot | DNA | PCR |
| Taylan, 2019 (55) | ALL | 3 years | 2 | 0 | 0 | Sweden | Newborn blood spot | DNA | dPCR |
nr, not reported; dPCR, digital PCR; nPCR, nested PCR; snPCR, semi-nested PCR; ALL, acute lymphoblastic leukemia; AML, acute myeloid leukemia.