Patients' characteristics according to KIT sequencing: literature review
| . | No D816V mutation, n = 15§ . | D816V mutations, n = 13 . |
|---|---|---|
| Media age at diagnosis, y (range) | 46 (18-66) | 58 (52-76) |
| Female/Male | 10/4‡ | 8/5 |
| Ethnicity, n (%) | ||
| White | 6 (85) | 3 (75) |
| Asiatic | 1 (15) | 1 (25) |
| Familial mastocytosis | 0 (0) | 0 (0) |
| Median time from symptoms to diagnosis, mo (range) | 5 (0-108) | 5 (0-10) |
| History of mastocytosis, n (%) | 4 (33) | 1 (15) |
| Aleukemic MCL, n (%) | 10 (83) | 8 (61) |
| Organ involvement, n (%) | ||
| Skin (UP) | 4 (28) | 3 (23) |
| Hepatomegaly | 8 (57) | 8 (66) |
| Splenomegaly | 10 (71) | 10 (77) |
| Lymph nodes | 3 (25) | 3 (23) |
| Ascites | 2 (15) | 5 (38) |
| Gastroduodenal ulcer, n (%) | 0 (0) | 1 (12.5) |
| AHNMD, n (%) | 0 (0) | 3 (43) |
| MCAS, n (%) | 12 (85) | 8 (61) |
| KITmutation (%)* | ||
| D816V KIT mutation | 13 (100) | |
| WT KIT | 2 (25) | |
| Exon 9 mutation | 3 (37.5) | |
| Exon 10 mutation | 1 (12.5) | |
| Exon 11 mutation | 1 (12,5) | |
| Exon 13 mutation | 1 (12.5) | |
| Not available | 7 (46) | |
| Abnormal cytogenetics, n (%)† | 1 (12.5) | 1 (8) |
| (t(8;21)(q22;q22)) | ||
| Phenotype, n (%) | ||
| CD2+ | 4 (33) | 8 (80) |
| CD25+ | 4 (36) | 11 (92) |
| CD2−/CD25+ | 1 (8) | 1 (8) |
| CD2−/CD25− | 5 (42) | 1 (8) |
| CD2+/CD25+ | 3 (25) | 8 (66) |
| CD2+/CD25− | 1 (8) | 0 (0) |
| Biological data, median (range) | ||
| Tryptase, ng/L | 400 (173-742) | 200 (111-2357) |
| Hemoglobin, g/dL | 10 (5.4-12.5) | 10 (7-13.7) |
| Platelets, ×109/L | 117.5 (45-318) | 74 (5-210) |
| PMN, ×109/L | 1.5 (1.1-4) | 10.5 (3.5-14) |
| BM mastocytes, % (range) | 64 (23-100) | 60 (30-90) |
| Blood mastocytes, % (range) | 3.5 (1-31) | 3.5 (1-20) |
| Outcome | ||
| Death, n (%) | 9 (69) | 6 (46) |
| Median survival time, mo (range) | 5 (0.5-29) | 5.5 (2-23) |
| . | No D816V mutation, n = 15§ . | D816V mutations, n = 13 . |
|---|---|---|
| Media age at diagnosis, y (range) | 46 (18-66) | 58 (52-76) |
| Female/Male | 10/4‡ | 8/5 |
| Ethnicity, n (%) | ||
| White | 6 (85) | 3 (75) |
| Asiatic | 1 (15) | 1 (25) |
| Familial mastocytosis | 0 (0) | 0 (0) |
| Median time from symptoms to diagnosis, mo (range) | 5 (0-108) | 5 (0-10) |
| History of mastocytosis, n (%) | 4 (33) | 1 (15) |
| Aleukemic MCL, n (%) | 10 (83) | 8 (61) |
| Organ involvement, n (%) | ||
| Skin (UP) | 4 (28) | 3 (23) |
| Hepatomegaly | 8 (57) | 8 (66) |
| Splenomegaly | 10 (71) | 10 (77) |
| Lymph nodes | 3 (25) | 3 (23) |
| Ascites | 2 (15) | 5 (38) |
| Gastroduodenal ulcer, n (%) | 0 (0) | 1 (12.5) |
| AHNMD, n (%) | 0 (0) | 3 (43) |
| MCAS, n (%) | 12 (85) | 8 (61) |
| KITmutation (%)* | ||
| D816V KIT mutation | 13 (100) | |
| WT KIT | 2 (25) | |
| Exon 9 mutation | 3 (37.5) | |
| Exon 10 mutation | 1 (12.5) | |
| Exon 11 mutation | 1 (12,5) | |
| Exon 13 mutation | 1 (12.5) | |
| Not available | 7 (46) | |
| Abnormal cytogenetics, n (%)† | 1 (12.5) | 1 (8) |
| (t(8;21)(q22;q22)) | ||
| Phenotype, n (%) | ||
| CD2+ | 4 (33) | 8 (80) |
| CD25+ | 4 (36) | 11 (92) |
| CD2−/CD25+ | 1 (8) | 1 (8) |
| CD2−/CD25− | 5 (42) | 1 (8) |
| CD2+/CD25+ | 3 (25) | 8 (66) |
| CD2+/CD25− | 1 (8) | 0 (0) |
| Biological data, median (range) | ||
| Tryptase, ng/L | 400 (173-742) | 200 (111-2357) |
| Hemoglobin, g/dL | 10 (5.4-12.5) | 10 (7-13.7) |
| Platelets, ×109/L | 117.5 (45-318) | 74 (5-210) |
| PMN, ×109/L | 1.5 (1.1-4) | 10.5 (3.5-14) |
| BM mastocytes, % (range) | 64 (23-100) | 60 (30-90) |
| Blood mastocytes, % (range) | 3.5 (1-31) | 3.5 (1-20) |
| Outcome | ||
| Death, n (%) | 9 (69) | 6 (46) |
| Median survival time, mo (range) | 5 (0.5-29) | 5.5 (2-23) |
MCL indicates mast cell leukemia; UP, urticaria pigmentosa; AHNMD, associated clonal hematologic non–MC-lineage disease; MCAS, mast cell activation syndrome; PMN, polymorphonuclear; and BM, bone marrow.
Exon 9 mutation at codons 501-502-503; exon 10 mutation at codon 522, exon 11 mutation at codon 560, exon 13 mutation at codon 654; not available by KIT sequencing.
Abnormal cytogenetics, 5q deletion (2 patients with AHNMD), t(10;16) (q22;q13q22) and t(8;21)(q22;q22) (2 patients).
One missing.
Two patients with previous mast cell sarcoma and 2 patients with previous pediatric mastocytosis.