Relevant clinical and genetic data of classical Hodgkin lymphoma cases with JAK2 rearrangements
| Case . | Sex/age, y . | Diagnosis/stage . | Immunophenotype . | Treatment . | Response/survival . | Genetics . | ||
|---|---|---|---|---|---|---|---|---|
| Karyotype* . | JAK2 . | |||||||
| Rearrangement detected by . | Partner . | |||||||
| 1 | M/31 | NScHL grade 2 (rich in RS cells)/IIIB | CD15+, CD30+, PAX5−, ALK−, TIA1+, granzymB+, perforin+, CD4−, CD8−, BOB1−, JAK2+, EBV− | 8 cycles of ABVD | CR/alive 60 months after diagnosis | Complex, t(4;9)(q21;p24)† | FISH (1-2F/2-3R/2G)‡ RT-PCR | SEC31A |
| 2 | M/83 | LDcHL (rich in RS cells)/IIA | CD15+, CD30+, PAX5−, ALK−, TIA1+, granzymB−, perforin−, CD3−, CD4−, JAK2+, EBV NA§ | RT 40 Gy (not completed) | Died 14 days after diagnosis due to infection | NA | RT-PCR | SEC31A |
| 3 | F/60 | LRcHL/II | CD15+, CD30+, PAX5+, ALK−, EBV− | 4 cycles of ABVD + RT | CR/alive 12 months after diagnosis | 46,XX | FISH (1F/3R/1G)‡ | Unknown‖ |
| 4 | M/23 | NScHL (rich in RS cells)/IIB | CD15+, CD30+, PAX5+, EBV+ | ABVD | CR/alive 58 months after diagnosis | 46,XY | FISH (2-3F/2-3R/2G)‡ | Unknown‖ |
| Case . | Sex/age, y . | Diagnosis/stage . | Immunophenotype . | Treatment . | Response/survival . | Genetics . | ||
|---|---|---|---|---|---|---|---|---|
| Karyotype* . | JAK2 . | |||||||
| Rearrangement detected by . | Partner . | |||||||
| 1 | M/31 | NScHL grade 2 (rich in RS cells)/IIIB | CD15+, CD30+, PAX5−, ALK−, TIA1+, granzymB+, perforin+, CD4−, CD8−, BOB1−, JAK2+, EBV− | 8 cycles of ABVD | CR/alive 60 months after diagnosis | Complex, t(4;9)(q21;p24)† | FISH (1-2F/2-3R/2G)‡ RT-PCR | SEC31A |
| 2 | M/83 | LDcHL (rich in RS cells)/IIA | CD15+, CD30+, PAX5−, ALK−, TIA1+, granzymB−, perforin−, CD3−, CD4−, JAK2+, EBV NA§ | RT 40 Gy (not completed) | Died 14 days after diagnosis due to infection | NA | RT-PCR | SEC31A |
| 3 | F/60 | LRcHL/II | CD15+, CD30+, PAX5+, ALK−, EBV− | 4 cycles of ABVD + RT | CR/alive 12 months after diagnosis | 46,XX | FISH (1F/3R/1G)‡ | Unknown‖ |
| 4 | M/23 | NScHL (rich in RS cells)/IIB | CD15+, CD30+, PAX5+, EBV+ | ABVD | CR/alive 58 months after diagnosis | 46,XY | FISH (2-3F/2-3R/2G)‡ | Unknown‖ |
M indicates male; F, female; cHL, classical Hodgkin lymphoma; NScHL, nodular sclerosis cHL; LDcHL, lymphocyte-depleted cHL; LRcHL, lymphocyte-rich cHL; w, weak; ABVD, adriamycin (doxorubicin), bleomycin, vinblastine, dacarbazine; RT, radiotherapy; CR, complete remission; LN, lymph node; D, diagnosis; NA, not available; F, fused red and green signal; R, red signal; and G, green signal.
All karyotypes were obtained from diagnostic lymph node biopsies.
56-76,X,+X,−Y,+add(3)(q11),t(4;9)(q21;p24)x2,add(10)(p11),dic(11;11)(q25;q25),+1-6mar,+numerical changes [cp5].
FISH pattern of the JAK2 BA assay.
Consult sections for which the EBV status was not determined.
Involvement of SEC31A, ETV6, PCM1, BCR, SSBP2, and STRN3 was excluded by FISH.