Table 2.
Proportion of patients with clinically relevant rare variants in HSCT recipients.
| Gene Panel/Diagnosis group | Adult cohort 1 | Adult cohort 2 | Total (adults) | Pediatric cohort | Adults vs. children p valueb |
|---|---|---|---|---|---|
| All Panels | 24/141 (17.0%) | 18/138 (13.0%) | 42/279 (15.1%) | 35/153 (22.9%) | 0.049 |
| Myeloid malignancies (AML, MDS, MPN) | 17/97 (17.5%) | 11/78 (14.1%) | 28/175 (16.0%) | 6/35 (17.1%) | 0.806 |
| ALL | 4/29 (13.8%) | 3/22 (13.6%) | 7/51 (13.7%) | 16/88 (18.2%) | 0.637 |
| Plasma cell dyscrasias | 1/12 (8.3%) | 1/21 (4.8%) | 2/33 (6.1%) | - | NA |
| AA/BMF | 2/3 (66.7%) | 1/8 (12.5%) | 3/11 (27.3%) | 4/11 (36.4%) | 1.000 |
| PID | - | - | - | 7/8 (87.5%) | NA |
| Othera | - | 2/9 (22.2%) | 2/9 (22.2%) | 2/11 (18.2%) | NA |
| Hematology Panel | 10/141 (7.1%) | 5/138 (3.6%) | 15/279 (5.4%) | 17/153 (11.1%) | 0.035 |
| Myeloid malignancies (AML, MDS, MPN) | 7/97 (7.2%) | 3/78 (3.8%) | 10/175 (5.7%) | 1/35 (2.9%) | 0.695 |
| ALL | 1/29 (3.4%) | 1/22 (4.5%) | 2/51 (3.9%) | 3/88 (3.4%) | 1.000 |
| Plasma cell dyscrasias | 1/12 (8.3%) | 0/21 (0.0%) | 1/33 (3.0%) | - | NA |
| AA/BMF | 1/3 (33.3%) | 1/8 (12.5%) | 2/11 (18.2%) | 4/11 (36.4%) | 0.635 |
| PID | - | - | - | 7/8 (87.5%) | NA |
| Othera | - | 0/9 (0.0%) | 0/9 (0.0%) | 2/11 (18.2%) | NA |
| Oncology Panel | 18/141 (12.8%) | 11/138 (8.0%) | 29/279 (10.4%) | 19/153 (12.4%) | 0.526 |
| Myeloid malignancies (AML, MDS, MPN) | 13/97 (13.4%) | 7/78 (9.0%) | 20/175 (11.4%) | 3/35 (8.6%) | 0.773 |
| ALL | 3/29 (10.3%) | 1/22 (4.5%) | 4/51 (7.8%) | 14/88 (15.9%) | 0.200 |
| Plasma cell dyscrasias | 1/12 (8.3%) | 1/21 (4.8%) | 2/33 (6.1%) | - | NA |
| AA/BMF | 1/3 (33.3%) | 0/8 (0.0%) | 1/11 (9.1%) | 1/11 (9.1%) | 1.000 |
| PID | - | - | - | 0/8 (0.0%) | NA |
| Othera | - | 2/9 (22.2%) | 2/9 (22.2%) | 1/11 (9.1%) | NA |
| ACMG SF v3.0 Panel | 3/141 (2.1%) | 3/138 (2.2%) | 6/279 (2.2%) | 11/153 (7.2%) | 0.017 |
| Myeloid malignancies | 2/97 (2.1%) | 2/78 (2.6%) | 4/175 (2.3%) | 3/35 (8.6%) | 0.092 |
| ALL | 1/29 (3.4%) | 1/22 (4.5%) | 2/51 (3.9%) | 7/88 (8.0%) | 0.486 |
| Plasma cell dyscrasias | 0/12 (0.0%) | 0/21 (0.0%) | 0/33 (0.0%) | - | NA |
| AA/BMF | 0/3 (0.0%) | 0/8 (0.0%) | 0/11 (0.0%) | 1/11 (9.1%) | 1.000 |
| PID | - | - | - | 0/8 (0.0%) | NA |
| Othera | - | 0/9 (0.0%) | 0/9 (0.0%) | 0/11 (0.0%) | NA |
There was no significant difference between the two adult patient groups in any of the subgroups. Pediatric patients had more variants detected in the Hematology Panel and ACMG SF v3.0 Panel.
AA aplastic anemia, ALL acute lymphoblastic leukemia, AML acute myeloid leukemia, BMF bone marrow failure, MDS myelodysplastic syndrome, MPN myeloproliferative neoplasm, NA not applicable, PID primary immunodeficiency.
aOther diagnoses included eight chronic lymphocytic leukemias and one prolymphocytic leukemia in adult patients and four non-Hodgkin lymphomas, two Langerhans cell histiocytosis, two solid tumor malignancies, one adrenoleukodystrophy, one betathalassemia, and one osteopetrosis in pediatric patients.
bFisher’s exact test.