Table 1.
Cytogenetic and molecular findings in individuals with PTPN2 deletion
| Ind | Sex | Age (years) |
Karyotypea | PTPN2 statusb |
TLX1/TLX3 expressionc |
NUP214- ABL1d |
|---|---|---|---|---|---|---|
| 1 | F | 30 | 46, XX, add(9)(p13), t(10;14) (q23;q11), del(12)(p12) / 46, XX, idic(9)(p13), t(10;14)(q24;q11), del(12)(p12) |
PTPN2 −/− | TLX1 | − |
| 2 | M | 24 | NA | PTPN2 −/− | TLX1 | + |
| 3 | F | 27 | 47,XX,del(6)(q21),t(7;10)(q35; q24),del(13)(q14), +mar |
PTPN2 −/− | TLX1 | − |
| 4 | M | 21 | 46,XY | PTPN2 −/− | TLX1 | − |
| 5 | M | 45 | 46,XY,t(10;14)(q24;q11) | PTPN2 −/− | TLX1 | + |
| 6 | M | 8 | 46,XY | PTPN2 −/− | TLX3 | − |
| 7 | M | 43 | 46,XY,del(6)(q15),t(7;10) (q34;q24),del(9)(p21) |
PTPN2 −/− | TLX1 | − |
| 8 | M | 20 | 46,Y,t(X;7)(p21;q36), del(6)(q23), t(10;14)(q24;q11), der(21)t(6;21)(q23;p11).ish del(9)(p21p21)x2 |
PTPN2 −/− | TLX1 | − |
| 9 | F | 4 | 46,XX | PTPN2 +/− | TLX1 | + |
| 10 | M | 11 | 46,XY,t(10,14)(q24,q11) | PTPN2 +/− | TLX1 | − |
| 18 | F | 35 | 49,XX,+7,t(7;10)(q34;q24),+13, +20 |
PTPN2 +/− | TLX1 | − |
| 20 | F | 9 | NA | PTPN2 +/− | TLX1 | + |
| 22 | F | 49 | 46,X,t(X;9)(q28;p22), del(5)(q23q33), t(7;10)(q34;q24),del(9)(p13) |
PTPN2 +/− PTPN2 mutation (862 C>T, R288Stop) |
TLX1 | − |
Summary of data on individuals with PTPN2 deletion; additional data is provided in supplementary table 1 online.
a
Karyotype obtained from bone marrow culture at diagnosis.
b
Determined by FISH, Q-PCR or array-CGH.
c
Positivity for TLX1 or TLX3 expression or rearrangement.
d
Positivity for NUP214-ABL1 expression or rearrangement (+, positive for NUP214-ABL1; −, negative for NUP214-ABL1). −/−, bi-allelic deletion; +/−, mono-allelic deletion; NA, not available; F, female; M, male.