Table 2.
Genomic variants in 8 patients who had extended DNA and RNA sequencing for ALL and AML type somatic mutations.
| Age | MPAL | Cytogenetics | Molecular mutations |
|---|---|---|---|
| 1 | B/myeloid | 46,XY,?inv(11)(q22q23),der(16)t(1;16)(q21;q12) | PASK R451* |
| 3 | MPAL, NOS rare type | 46,XY,t(1;5;9)(p32;q33;p22) |
IL7R L243_T244insGES GPCL, NOTCH1 P2415fs*5, IKZF1 K91fs*3, PHF6 Y105fs*38 |
| 4 | B/myeloid | 46,XY,del(6)(q?23q?25),add(12)(p13)[12] 46,idem,add(4)(p?14)[4]/46,XY[4] FISH positive for t(12;21)(p13;q22) |
ETV6-RUNX1 fusion |
| 15 | MLL/MPAL | 53,X,+X,-Y,+1,der(1)inv(1)p12q12)del(1)(p12); t(4;11)(q21;q23),+der(1)t(4;11),+8,+10,+13,+21, +22 | PTPN11 p.E76K, CDKN2A p.16INK4a CDKN2A p.H63Y, CDKN2A p.14ARF CDKN2A p.A97V, MLL-AFF1 fusion, CD36 N53fs*24, ETV6 p.E392* |
| 25 | MLL/MPAL | 46,XX,t(4;11)(q21;q23) | MLL-AFF1 fusion |
| 27 | MPAL, NOS rare type | 47,XY,+8,del(12)(p12)[8]47,idem,del(9)(q?34)[4] 46,XY[8] |
RUNX1 R320*, JAK3 p.A573V, JAK3 p.M511I, JAK3 p.V674A, NOTCH1 truncation intron 2, NUP214 SET-NUP214 fusion, PHF6 R128*, PTPN11 p.G503V, SF3B1 p.E862K, SUZ 12 S53fs*32, TYK2 p.V15A |
| 29 | B/myeloid | 45,XX,der(13;14)(q10;q10)[8]51,idem,+10,+11,+ 17,+18,+21x2 | FLT3 p.Y589S, CDKN2A p16INK4a loss, CDKN2A p14ARF loss exon 2–3, EP300 C14orf119 - EP300 fusion, MLL2 R1702* |
| 37 | T/myeloid | 45,XY,add(1)(p?22),der(3)t(1;3)(p22;q21),-9, add(10)(p11.2),del(11)(q23),del(12)(p11.2), add(14)(q32),i(17)(q10),der(18)t(9;18)(q13;q23) | NF1 deletion exon 31–35, MLL PICALM-MLL T10 fusion^, NOTCH2 p.I1549M, MLL3 p.M711T, FANCE p.R141* # |
In bold are alteration recurrently identified in ALL.
^
MLL PICALM-MLL T10 fusions are described to occur in acute leukemia with mixed phenotype and typically in patients with T/myeloid phenotype as in this case 51.
#
Mutations in FANCE are associated with Fanconi anemia 52 but to the best of our knowledge they have never been reported in MPAL.