Table 2.
Patient 2 pathological findings, by site.
| Site (days from original diagnosis) | Diagnosis | Morphology | IHC (T-cell population of interest) | Flow (T-cell population of interest) | Gene rearrangements | Peripheral blood CBC with 100-cell differential count (%)∗ | Cytogenetics | |||
|---|---|---|---|---|---|---|---|---|---|---|
| 5/2009 | Mediastinal mass | T-cell ALL | Monotonous population of immature lymphoid cells with high N:C ratio, round to oval nuclei, mild nuclear irregularity, and scant cytoplasm | Positive: TdT (90%) | Positive: CD2, CD3, CD5 (d), CD7, CD4, CD8, CD45, CD10 Negative: CD20, EpCAM, Cytokeratin | TβA | Germline | WBCa | 6.4 | |
| TβB | Germline | Hemoglobinb | 12.8 | |||||||
| TβC | Germline | MCVc | 87.2 | |||||||
| TγA | Germline | Plateletsa | 209 | |||||||
| TγB | 185.23, 193.82 | Lymphocytes | 18.7 | |||||||
| Atypical lymphocytes | 0 | |||||||||
| Blasts | 0 | |||||||||
| Pleural fluid 17 days | T-cell ALL | Immature lymphoid blasts | Positive: CD3, CD4, CD8, TdT, CD99 Negative: CD79a | np | np | nc | No mitotic activity | |||
| Right iliac crest 18 days | T-cell ALL | Sheets of lymphoblasts with high N:C ratio, immature chromatin, visible nucleoli, scant cytoplasm with occasional cytoplasmic vacuoles | np | Positive: CD45 (d), cyCD3, CD7, CD4, CD8, TdT (d), CD117, CD10 Negative: CD20, CD34; loss of surface CD3 and CD5 | np | WBCa | 9.94 | |||
| Hemoglobinb | 13.9 | |||||||||
| MCVc | 86.2 | |||||||||
| Plateletsa | 262 | |||||||||
| Lymphocytes | Few | |||||||||
| Atypical lymphocytes | 22 | |||||||||
| Blasts | 0 | |||||||||
| 9/2009 | Left iliac crest 131 days | Normocellular marrow with NEM | nc | nc | nc | Germline | nc | Normal | ||
| 3/2013 | Right iliac crest† 1417 days | Normocellular marrow with NEM | nc | np | nc | TβA | 262.3 | WBCa | 6.39 | |
| TβB | 261.10, 266.54 | Hemoglobinb | 1.7 | |||||||
| TβC | 188.74 | MCVc | 90.6 | |||||||
| TγA | Germline | Plateletsa | 165 | |||||||
| TγB | 174.32 | Lymphocytes | 19.7 | |||||||
| Atypical lymphocytes | 0 | |||||||||
| Blasts | 0 | |||||||||
| Pleural fluid 1419 days | PTCL, NOS with 75% large T-cells | Abundant large lymphoid cells with condensed chromatin, markedly irregular nuclear contours, frequent horseshoe-shaped nuclei, occasional binucleation, inconspicuous nucleoli, moderate-to-abundant pale blue cytoplasm, and cytoplasmic azurophilic granules | np | Positive: CD3c, CD8, CD45 Negative: CD3, CD7, CD4, TdT, CD117, CD20, CD34, CD56 | TβA | 259.6 (+/−) | WBCa | 6.12 | SNP ARRAY | |
| TβB | 252.79, 272.24 | Hemoglobinb | 10.4 | |||||||
| TβC | 326.3 | MCVc | 91.5 | |||||||
| TγA | 208.3, 216.77 | Plateletsa | 190 | |||||||
| TγB | Germline | Lymphocytes | 19.6 | |||||||
| Atypical lymphocytes | 0 | |||||||||
| Blasts | 0 | |||||||||
| 3/2013 | Left chest wall mass 1419 days | PTCL, NOS∗∗ | Skeletal muscle extensively involved by a diffuse infiltrate of large lymphoid cells with granular chromatin, marked nuclear pleomorphism, markedly irregular nuclear contours, occasional horseshoe-shaped nuclei, and occasional conspicuous nucleoli | Positive: CD2, CD3, CD8 (b), ki67 (80%) Negative: CD5, CD7, CD4, TdT, CD15, CD20, CD30, CD34, CD56, pan-keratin, PAX5, EBV-LMP, EBER | np | np | nc | |||
| Left flank mass | PTCL, NOS | Large lymphoid cells with granular chromatin, marked nuclear pleomorphism, markedly irregular nuclear contours, occasional horseshoe-shaped nuclei, occasional conspicuous nucleoli, moderate pale eosinophilic cytoplasm, and abundant cytotoxic granules | Positive: CD3 (b), granzyme-B Negative: CD5, TdT, CD20, CD30, CD34, ALK-1, CD1a, myeloperoxidase, EBER ISH | Not representative | ||||||
Note: (b) bright; (d) dim; (f) focal; (s) positive in subset; +/− equivocal. NEM, no evidence of malignancy; nc, noncontributory; nd, nondiagnostic due to insufficient specimen; np, not performed. aIn k/μL; bin g/dL; cin fL. ∗Manual differential used when available; otherwise, automated impedance counts were utilized. †The IHC profile is from a chest wall mass biopsy taken on the same day. This biopsy had a dense atypical lymphocytic infiltrate. ∗∗Flow photocytometry demonstrated a 5% population of small T-cells. Limited material hindered full evaluation.