Clinicopathological features of the 61 MCL patients with WGS analysis
| Variable . | Total (n) . | cMCL (n = 44) . | nnMCL (n = 17) . | P . |
|---|---|---|---|---|
| Clinical data (at diagnosis) | ||||
| Age, median (range), y | 64 (38-85) | 64 (38-85) | 64 (51-80) | .477 |
| Male/female, no. | 43/18 | 33/11 | 10/7 | .229 |
| Nodal presentation, % | 22/55 (40) | 22/40 (55) | 0/15 (0) | <.001 |
| Splenomegaly, % | 26/55 (47) | 24/40 (60) | 2/15 (13) | .002 |
| LDH (>ULN), % | 16/53 (30) | 16/39 (41) | 0/14 (0) | .005 |
| MIPI high risk, % | 42/46 (91) | 32/36 (89) | 10/10 (100) | .562 |
| ECOG (≥2), % | 8/48 (17) | 8/37 (22) | 0/11 (0) | .170 |
| Pathological and molecular data | ||||
| Cyclin D1 positive, % | 60/61 (98) | 43*/44 (98) | 17/17 (100) | 1 |
| Mutated IGHV genes | ||||
| Identity <98%, % | 24/61 (39) | 8/44 (18) | 16/17 (94) | <.001 |
| Identity, median (range) | 99 (91-100) | 99 (93-100) | 95 (91-99) | <.001 |
| Nanostring L-MCL16 assay, %† | <.001 | |||
| cMCL | 15/29 (52) | 15/16 (94) | 0/13 (0) | |
| nnMCL | 11/29 (38) | 0/16 (0) | 11/13 (85) | |
| Undetermined | 3/29 (10) | 1/16 (6) | 2/13 (15) | |
| Epigenetic COO, %‡ | <.001 | |||
| C1 (GC inexperienced) | 35/54 (65) | 34/37 (92) | 1/17 (6) | |
| C2 (GC experienced) | 17/54 (31) | 2/37 (5) | 15/17 (88) | |
| Undetermined | 2/54 (4) | 1/37 (3) | 1/17 (6) | |
| Complex karyotype, % | 17/37 (46) | 12/21 (57) | 5/16 (31) | .185 |
| Morphology, % | <.001 | |||
| Small cell | 15/57 (26) | 5/41 (12) | 10/16 (62) | |
| Classic | 30/57 (53) | 24/41 (59) | 6/16 (38) | |
| Blastoid | 12/57 (21) | 12/41 (29) | 0/16 (0) | |
| Light chain restriction, % | .259 | |||
| κ | 35/61 (57) | 23/44 (52) | 12/17 (71) | |
| λ | 26/61 (43) | 21/44 (48) | 5/17 (29) | |
| Sequenced sample, % | .023 | |||
| Lymph node | 12/61 (20) | 12/44 (27) | 0/17 (0) | |
| Other tissue§ | 2/61 (3) | 2/44 (5) | 0/17 (0) | |
| Peripheral blood | 46/61 (75) | 29/44 (66) | 17/17 (100) | |
| Bone marrow | 1/61 (2) | 1/44 (2) | 0/17 (0) | |
| Pretreatment sample, % | 56/60 (93) | 40/43 (93) | 16/17 (94) | 1 |
| Time from diagnosis to pretreatment sample, median (range), mo | 0.9 (0-101.6) | 0.4 (0-14) | 9.5 (0-101.6) | <.001 |
| Treatment at diagnosis, %║ | <.001 | |||
| High-dose therapy | 17/58 (29) | 17/41 (41) | 0/17 (0) | |
| Immunochemotherapy | 12/58 (21) | 12/41 (29) | 0/17 (0) | |
| Low-dose chemotherapy | 6/58 (10) | 6/41 (15) | 0/17 (0) | |
| Observation | 23/58 (40) | 6/41 (15) | 17/17 (100) | |
| Follow-up data | ||||
| Treated at 2 y, % (95% CI) | 67 (52-78) | 91 (76-97) | 7 (0-18) | <.001 |
| n treated, n censored, n missing | 38, 3, 4 | 37, 2, 3 | 1, 1, 1 | |
| 2-y OS, % (95% CI) | 81 (72-92) | 73 (61-88) | 100 (100-100) | .006 |
| n dead, n censored, n missing | 11, 4, 1 | 11, 4, 1 | 0, 0, 0 |
| Variable . | Total (n) . | cMCL (n = 44) . | nnMCL (n = 17) . | P . |
|---|---|---|---|---|
| Clinical data (at diagnosis) | ||||
| Age, median (range), y | 64 (38-85) | 64 (38-85) | 64 (51-80) | .477 |
| Male/female, no. | 43/18 | 33/11 | 10/7 | .229 |
| Nodal presentation, % | 22/55 (40) | 22/40 (55) | 0/15 (0) | <.001 |
| Splenomegaly, % | 26/55 (47) | 24/40 (60) | 2/15 (13) | .002 |
| LDH (>ULN), % | 16/53 (30) | 16/39 (41) | 0/14 (0) | .005 |
| MIPI high risk, % | 42/46 (91) | 32/36 (89) | 10/10 (100) | .562 |
| ECOG (≥2), % | 8/48 (17) | 8/37 (22) | 0/11 (0) | .170 |
| Pathological and molecular data | ||||
| Cyclin D1 positive, % | 60/61 (98) | 43*/44 (98) | 17/17 (100) | 1 |
| Mutated IGHV genes | ||||
| Identity <98%, % | 24/61 (39) | 8/44 (18) | 16/17 (94) | <.001 |
| Identity, median (range) | 99 (91-100) | 99 (93-100) | 95 (91-99) | <.001 |
| Nanostring L-MCL16 assay, %† | <.001 | |||
| cMCL | 15/29 (52) | 15/16 (94) | 0/13 (0) | |
| nnMCL | 11/29 (38) | 0/16 (0) | 11/13 (85) | |
| Undetermined | 3/29 (10) | 1/16 (6) | 2/13 (15) | |
| Epigenetic COO, %‡ | <.001 | |||
| C1 (GC inexperienced) | 35/54 (65) | 34/37 (92) | 1/17 (6) | |
| C2 (GC experienced) | 17/54 (31) | 2/37 (5) | 15/17 (88) | |
| Undetermined | 2/54 (4) | 1/37 (3) | 1/17 (6) | |
| Complex karyotype, % | 17/37 (46) | 12/21 (57) | 5/16 (31) | .185 |
| Morphology, % | <.001 | |||
| Small cell | 15/57 (26) | 5/41 (12) | 10/16 (62) | |
| Classic | 30/57 (53) | 24/41 (59) | 6/16 (38) | |
| Blastoid | 12/57 (21) | 12/41 (29) | 0/16 (0) | |
| Light chain restriction, % | .259 | |||
| κ | 35/61 (57) | 23/44 (52) | 12/17 (71) | |
| λ | 26/61 (43) | 21/44 (48) | 5/17 (29) | |
| Sequenced sample, % | .023 | |||
| Lymph node | 12/61 (20) | 12/44 (27) | 0/17 (0) | |
| Other tissue§ | 2/61 (3) | 2/44 (5) | 0/17 (0) | |
| Peripheral blood | 46/61 (75) | 29/44 (66) | 17/17 (100) | |
| Bone marrow | 1/61 (2) | 1/44 (2) | 0/17 (0) | |
| Pretreatment sample, % | 56/60 (93) | 40/43 (93) | 16/17 (94) | 1 |
| Time from diagnosis to pretreatment sample, median (range), mo | 0.9 (0-101.6) | 0.4 (0-14) | 9.5 (0-101.6) | <.001 |
| Treatment at diagnosis, %║ | <.001 | |||
| High-dose therapy | 17/58 (29) | 17/41 (41) | 0/17 (0) | |
| Immunochemotherapy | 12/58 (21) | 12/41 (29) | 0/17 (0) | |
| Low-dose chemotherapy | 6/58 (10) | 6/41 (15) | 0/17 (0) | |
| Observation | 23/58 (40) | 6/41 (15) | 17/17 (100) | |
| Follow-up data | ||||
| Treated at 2 y, % (95% CI) | 67 (52-78) | 91 (76-97) | 7 (0-18) | <.001 |
| n treated, n censored, n missing | 38, 3, 4 | 37, 2, 3 | 1, 1, 1 | |
| 2-y OS, % (95% CI) | 81 (72-92) | 73 (61-88) | 100 (100-100) | .006 |
| n dead, n censored, n missing | 11, 4, 1 | 11, 4, 1 | 0, 0, 0 |
CI, confidence interval; ECOG, Eastern Cooperative Oncology Group; LDH, lactate dehydrogenase; MIPI, MCL International Prognostic Index; ULN, upper level of normal.
One case was negative for cyclin D1 expression and CCND1 rearrangement but had MCL morphologic and phenotypic criteria (including SOX11 positivity) according to the WHO classification.30
Clot et al.17
Queirós et al.16
Corresponding to 1 skin and 1 tonsil.
The treatment information in 3 patients could not be obtained. High-dose therapy includes Cytarabine-based immunochemotherapy and/or autologous stem-cell transplantation; Immunochemotherapy includes R-CHOP-like regimens; and Low-dose therapy includes alkylating agents alone or in combination.