Table 1.
Advanced SM in children: case studies with molecular diagnostics published in the last decade.
| Reference | Diagnosis, Category of SM | KIT Mutation in BM | Cytogenetics, Molecular Diagnostics | Age Sex |
Cutaneous Involvement, Type of Lesions |
|---|---|---|---|---|---|
| Intzes S. et al. (2011) [45] | SM-AHN (AML) | D816V (−) | t(8;21)(q22;q22) | 5 years F |
no |
| Mahadeo K.M. et al. (2011) [51] | SM-AHN (AML) | D816V (−) No mutation in exon 8, 9, 11, 13, 17 |
t(8;21)(q22;q22) | 10 years F |
no |
| Yabe M. et al. (2012) [56] | SM-AHN (AML) | D816A (+) | t(8;21)(q22;q22) | 5 years F |
no |
| Gadage V.S. et al. (2012) [48] | SM-AHN (AML) | D816V: ND | t(8;21)(q22;q22) | 14 years F |
no |
| Gogia A. et al. (2013) [53] | SM-AHN (AML) | Codon 816 (−) | 46,XX | 3 years F |
maculopapular lesions |
| Rabade N. et al. (2016) [54] | SM-AHN (AML) | D816V (−) | t(8;21)(q22;q22) | 7 years F |
no |
| Mitchell S.G. et al. (2017) [57] | SM-AHN (CMML) | D816H (+) | 49,XX,+8+8, der(8)t(1;8)(q21;p11.2), +12,i(12)(p10) | 13 years F |
no |
| Huang A. et al. (2017) [58] | ASM | D816V (+) | ND | 1 month M |
diffuse lesions |
| Zheng Y. et al. (2018) [55] | MCL | D816V (−) | 47,XY+5,t(1;9) | 13 years M |
no |
Abbreviations: BM—bone marrow; SM—systemic mastocytosis; AHN—hematologic neoplasm; F—female; M—male; AML—acute myeloid leukemia; CMML—chronic myelomonocytic leukemia; ASM- aggressive SM; ND—not done; (+)—positive result; (−)—negative result.