Clinical, laboratory, and immunohistochemical characteristics of mastocytosis patients
| Patient . | Age, y . | Sex . | Biopsy site . | Diagnosis . | Serum tryptase, ng/µL . | KIT mutation . | PD-1 expression . | PD-1 MC, % . | PD-L1 expression . | PD-L1 MC, % . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 62 | F | LN | MCL | NA | D816V+ | 0 | 0 | NA | NA |
| 2 | 61 | NA | BM | MCL | NA | D816V− | 0 | 0 | 3 | 80 |
| 3 | NA | NA | BM | MCL | NA | NA | 0 | 0 | 2 | 50 |
| 4 | 48 | F | BM | MCL- MDS/MPN-U | >200 | D816V+ | 0 | 0 | 2 | 50 |
| 5 | 30 | F | BM | ASM | NA | D816V− | 0 | 0 | 2 | 10 |
| 6 | NA | NA | BM | ASM | NA | NA | 0 | 0 | 2 | 20 |
| 7 | 46 | M | BM | SM-CMML-1 | NA | D816V− | 0 | 0 | 3 | 70 |
| 8 | 72 | M | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 2 | 50 |
| 9 | 68 | F | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 3 | 80 |
| 10 | 76 | F | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 3 | 80 |
| 11 | NA | NA | BM | SM-CMML-1 | NA | NA | 0 | 0 | 3 | 50 |
| 12 | 62 | M | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 3 | 50 |
| 13 | 67 | M | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 2 | 10 |
| 14 | 79 | M | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 0 | 0 |
| 15 | 65 | M | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 0 | 0 |
| 16 | 24 | M | BM | SM- MDS/MPN-U | NA | D816V+ | 0 | 0 | 0 | 0 |
| 17 | NA | NA | BM | SM-AML | NA | NA | 0 | 0 | 2 | 40 |
| 18 | NA | NA | BM | SM-AML | NA | NA | 0 | 0 | NA | NA |
| 19 | NA | NA | BM | SM-AHN | NA | NA | 0 | 0 | NA | NA |
| 20 | NA | NA | BM | SSM | NA | NA | 0 | 0 | 3 | 90 |
| 21 | NA | NA | BM | SSM | NA | NA | 0 | 0 | 0 | 0 |
| 22 | NA | NA | BM | ISM | NA | NA | 0 | 0 | 2 | 20 |
| 23 | NA | NA | BM | ISM | NA | NA | 0 | 0 | 2 | 10 |
| 24 | NA | NA | BM | ISM | NA | NA | 0 | 0 | 2 | 50 |
| 25 | NA | NA | BM | ISM | NA | NA | 0 | 0 | 0 | 0 |
| 26 | NA | NA | BM | MML | NA | NA | 0 | 0 | 2 | 10 |
| 27 | NA | NA | BM | MML | NA | NA | 0 | 0 | 0 | 0 |
| 28 | 16 | F | Skin, R neck | MPCM | NA | NA | 2 | 30 | 2 | 80 |
| 29 | 0.83 | F | Skin, chest | MPCM | NA | NA | 0 | 0 | 0 | 0 |
| 30 | 0.25 | F | Skin, back | MPCM | NA | NA | 0 | 0 | 3 | 80 |
| 31 | 24 | F | Skin, L back | MPCM | NA | NA | 0 | 0 | 3 | 50 |
| 32 | 32 | F | Skin, R thigh | MPCM | NA | NA | 0 | 0 | 3 | 50 |
| 33 | 0.33 | M | Skin, abdomen | MPCM | NA | NA | 0 | 0 | 0 | 0 |
| 34 | 39 | M | Skin, L forearm | MPCM | NA | NA | NA | NA | NA | NA |
| 35 | 56 | F | Skin, L thigh | MPCM | NA | NA | 2 | 25 | NA | NA |
| 36 | 2 | F | Skin, back | MPCM | NA | NA | 0 | 0 | 2 | 20 |
| 37 | 79 | M | Skin, back | MPCM | NA | NA | 0 | 0 | 2 | 30 |
| 38 | 61 | F | Skin, R calf | MPCM | NA | NA | 0 | 0 | 3 | 70 |
| 39 | 17 | F | Skin, L anterior forearm | MPCM | NA | NA | 0 | 0 | 2 | 20 |
| 40 | 59 | M | Skin, L back | MPCM | NA | NA | 0 | 0 | 2 | 50 |
| 41 | 51 | F | Skin, R upper thigh | MPCM | NA | NA | 0 | 0 | 3 | 80 |
| 42 | 8 | M | Skin, back | MPCM | NA | NA | 0 | 0 | 2 | 20 |
| 43 | 9 | M | Skin, L shoulder | MPCM | NA | NA | 0 | 0 | 3 | 50 |
| 44 | 49 | F | Skin, L, breast | MPCM | NA | D816V− | 0 | 0 | 3 | 60 |
| 45 | 3 | M | Skin, L flank | MPCM | NA | NA | 0 | 0 | 2 | 20 |
| 46 | 31 | F | Skin, R thigh | MPCM | NA | NA | 0 | 0 | 3 | 20 |
| 47 | 1 | M | Skin, scalp | Mastocytoma | NA | NA | 0 | 0 | 2 | 20 |
| 48 | 1 | M | Skin, R forearm | Mastocytoma | NA | NA | 2 | 20 | 2 | 50 |
| 49 | 0.17 | M | Skin, R side | Mastocytoma | NA | NA | 2 | 20 | 2 | 90 |
| 50 | NA | NA | Skin, NOS | MIS | NA | NA | 0 | 0 | 3 | 80 |
| 51 | NA | NA | Skin, NOS | MIS | NA | NA | 0 | 0 | 3 | 90 |
| 52 | 63 | F | Skin, R leg | MIS | NA | D816V+ | 0 | 0 | 3 | 75 |
| 53 | 53 | F | Skin, R abdomen/R thigh | MIS | 40 | NA | 0 | 0 | NA | NA |
| 54 | 22 | M | Skin, L wrist | MIS | 18.2 | NA | 0 | 0 | 2 | 30 |
| 55 | 22 | M | Skin, L plantar foot | MIS | 18.2 | NA | 0 | 0 | 2 | 30 |
| Patient . | Age, y . | Sex . | Biopsy site . | Diagnosis . | Serum tryptase, ng/µL . | KIT mutation . | PD-1 expression . | PD-1 MC, % . | PD-L1 expression . | PD-L1 MC, % . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 62 | F | LN | MCL | NA | D816V+ | 0 | 0 | NA | NA |
| 2 | 61 | NA | BM | MCL | NA | D816V− | 0 | 0 | 3 | 80 |
| 3 | NA | NA | BM | MCL | NA | NA | 0 | 0 | 2 | 50 |
| 4 | 48 | F | BM | MCL- MDS/MPN-U | >200 | D816V+ | 0 | 0 | 2 | 50 |
| 5 | 30 | F | BM | ASM | NA | D816V− | 0 | 0 | 2 | 10 |
| 6 | NA | NA | BM | ASM | NA | NA | 0 | 0 | 2 | 20 |
| 7 | 46 | M | BM | SM-CMML-1 | NA | D816V− | 0 | 0 | 3 | 70 |
| 8 | 72 | M | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 2 | 50 |
| 9 | 68 | F | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 3 | 80 |
| 10 | 76 | F | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 3 | 80 |
| 11 | NA | NA | BM | SM-CMML-1 | NA | NA | 0 | 0 | 3 | 50 |
| 12 | 62 | M | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 3 | 50 |
| 13 | 67 | M | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 2 | 10 |
| 14 | 79 | M | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 0 | 0 |
| 15 | 65 | M | BM | SM-CMML-1 | NA | D816V+ | 0 | 0 | 0 | 0 |
| 16 | 24 | M | BM | SM- MDS/MPN-U | NA | D816V+ | 0 | 0 | 0 | 0 |
| 17 | NA | NA | BM | SM-AML | NA | NA | 0 | 0 | 2 | 40 |
| 18 | NA | NA | BM | SM-AML | NA | NA | 0 | 0 | NA | NA |
| 19 | NA | NA | BM | SM-AHN | NA | NA | 0 | 0 | NA | NA |
| 20 | NA | NA | BM | SSM | NA | NA | 0 | 0 | 3 | 90 |
| 21 | NA | NA | BM | SSM | NA | NA | 0 | 0 | 0 | 0 |
| 22 | NA | NA | BM | ISM | NA | NA | 0 | 0 | 2 | 20 |
| 23 | NA | NA | BM | ISM | NA | NA | 0 | 0 | 2 | 10 |
| 24 | NA | NA | BM | ISM | NA | NA | 0 | 0 | 2 | 50 |
| 25 | NA | NA | BM | ISM | NA | NA | 0 | 0 | 0 | 0 |
| 26 | NA | NA | BM | MML | NA | NA | 0 | 0 | 2 | 10 |
| 27 | NA | NA | BM | MML | NA | NA | 0 | 0 | 0 | 0 |
| 28 | 16 | F | Skin, R neck | MPCM | NA | NA | 2 | 30 | 2 | 80 |
| 29 | 0.83 | F | Skin, chest | MPCM | NA | NA | 0 | 0 | 0 | 0 |
| 30 | 0.25 | F | Skin, back | MPCM | NA | NA | 0 | 0 | 3 | 80 |
| 31 | 24 | F | Skin, L back | MPCM | NA | NA | 0 | 0 | 3 | 50 |
| 32 | 32 | F | Skin, R thigh | MPCM | NA | NA | 0 | 0 | 3 | 50 |
| 33 | 0.33 | M | Skin, abdomen | MPCM | NA | NA | 0 | 0 | 0 | 0 |
| 34 | 39 | M | Skin, L forearm | MPCM | NA | NA | NA | NA | NA | NA |
| 35 | 56 | F | Skin, L thigh | MPCM | NA | NA | 2 | 25 | NA | NA |
| 36 | 2 | F | Skin, back | MPCM | NA | NA | 0 | 0 | 2 | 20 |
| 37 | 79 | M | Skin, back | MPCM | NA | NA | 0 | 0 | 2 | 30 |
| 38 | 61 | F | Skin, R calf | MPCM | NA | NA | 0 | 0 | 3 | 70 |
| 39 | 17 | F | Skin, L anterior forearm | MPCM | NA | NA | 0 | 0 | 2 | 20 |
| 40 | 59 | M | Skin, L back | MPCM | NA | NA | 0 | 0 | 2 | 50 |
| 41 | 51 | F | Skin, R upper thigh | MPCM | NA | NA | 0 | 0 | 3 | 80 |
| 42 | 8 | M | Skin, back | MPCM | NA | NA | 0 | 0 | 2 | 20 |
| 43 | 9 | M | Skin, L shoulder | MPCM | NA | NA | 0 | 0 | 3 | 50 |
| 44 | 49 | F | Skin, L, breast | MPCM | NA | D816V− | 0 | 0 | 3 | 60 |
| 45 | 3 | M | Skin, L flank | MPCM | NA | NA | 0 | 0 | 2 | 20 |
| 46 | 31 | F | Skin, R thigh | MPCM | NA | NA | 0 | 0 | 3 | 20 |
| 47 | 1 | M | Skin, scalp | Mastocytoma | NA | NA | 0 | 0 | 2 | 20 |
| 48 | 1 | M | Skin, R forearm | Mastocytoma | NA | NA | 2 | 20 | 2 | 50 |
| 49 | 0.17 | M | Skin, R side | Mastocytoma | NA | NA | 2 | 20 | 2 | 90 |
| 50 | NA | NA | Skin, NOS | MIS | NA | NA | 0 | 0 | 3 | 80 |
| 51 | NA | NA | Skin, NOS | MIS | NA | NA | 0 | 0 | 3 | 90 |
| 52 | 63 | F | Skin, R leg | MIS | NA | D816V+ | 0 | 0 | 3 | 75 |
| 53 | 53 | F | Skin, R abdomen/R thigh | MIS | 40 | NA | 0 | 0 | NA | NA |
| 54 | 22 | M | Skin, L wrist | MIS | 18.2 | NA | 0 | 0 | 2 | 30 |
| 55 | 22 | M | Skin, L plantar foot | MIS | 18.2 | NA | 0 | 0 | 2 | 30 |
Immunohistochemical expression of PD-1 and PD-L1 is scored as 0 (negative), 2 (dim), and 3 (moderate). The percentage of MCs stained by the antibody is estimated as a percentage out of total MCs present in the biopsy section on the slide.
AML, acute myeloid leukemia; CMML-1, chronic myelomonocytic leukemia-1; F, female; L, left; LN, lymph node; M, male; MDS/MPN-U, myelodysplastic/myeloproliferative neoplasm, unclassifiable; MIS, mastocytosis in skin; MPCM, maculopapular CM; NA, not available; NOS, not otherwise specified; R, right; SSM, smoldering SM.