Clinical and biologic data relating to APL cases with t(5;17)
| Case/M3 . | Sex/Age . | WBC, ×109/L . | DIC . | Karyotype after FISH analysis . | RT-PCR5-150 . | Immunofluorescence . | ATRA treatment . | Chemotherapy (protocol) . | Current status (from time of diagnosis) . |
|---|---|---|---|---|---|---|---|---|---|
| 54/M3 | F/9 | 17 | − | 46,XX,ins(3;5) (q26;q13q13), t(5;17)(q34;q21) | NPM-RARαpositive RARα-NPMpositive | PML: wild-type pattern NPM: diffuse nuclear pattern | D27-D1205-151 | LAME 91. Ara-C/Mitox induction; no CR. Morphologic and cytogenetic CR (32 metaphases) documented at D40. Consolidation: Dauno/Ara-C/Eto, Ara-C/Aspar/Amsa | Alive in CR1 at 29 mo |
| 55/M3r | F/76 | 43.1 | − | 46,XX,der(5)t(5;17) (q13;q21),del(8) (q22q24),der(17)5-153, 5∼32 dmin5-155 | PML-RARα negative PLZF-RARα negative NPM-RARα negative NuMA-RARα negative STAT5b-RARα negative | PML: wild-type pattern NPM: nucleolar wild- type pattern | D1-45-152 | Dauno/Ara-C | Died at D14, respiratory failure due to ATRA syndrome or Corynebacterium. 90% blasts in bone marrow before death. |
| Case/M3 . | Sex/Age . | WBC, ×109/L . | DIC . | Karyotype after FISH analysis . | RT-PCR5-150 . | Immunofluorescence . | ATRA treatment . | Chemotherapy (protocol) . | Current status (from time of diagnosis) . |
|---|---|---|---|---|---|---|---|---|---|
| 54/M3 | F/9 | 17 | − | 46,XX,ins(3;5) (q26;q13q13), t(5;17)(q34;q21) | NPM-RARαpositive RARα-NPMpositive | PML: wild-type pattern NPM: diffuse nuclear pattern | D27-D1205-151 | LAME 91. Ara-C/Mitox induction; no CR. Morphologic and cytogenetic CR (32 metaphases) documented at D40. Consolidation: Dauno/Ara-C/Eto, Ara-C/Aspar/Amsa | Alive in CR1 at 29 mo |
| 55/M3r | F/76 | 43.1 | − | 46,XX,der(5)t(5;17) (q13;q21),del(8) (q22q24),der(17)5-153, 5∼32 dmin5-155 | PML-RARα negative PLZF-RARα negative NPM-RARα negative NuMA-RARα negative STAT5b-RARα negative | PML: wild-type pattern NPM: nucleolar wild- type pattern | D1-45-152 | Dauno/Ara-C | Died at D14, respiratory failure due to ATRA syndrome or Corynebacterium. 90% blasts in bone marrow before death. |
Aspar indicates asparaginase; LAME, leucemie aiguë myeloide de l′enfant; other abbreviations as for Tables 2 and 4.
RNA integrity was confirmed in case 55 by amplification of RARa transcripts, as described previously.44
ATRA given at a dose of 40 mg/m2/d; no ATRA syndrome was observed.
In vitro ATRA sensitivity data for case 55 have been reported elsewhere68; an atypical response was observed with spontaneous reduction of NBT in the absence of morphologic evidence of differentiation.
der(17) consists of a small chromosome identified by FISH using chromosome 17 wcp and centromeric probes.
dmin were labeled by chromosome 8 wcp and c-myc probes.