Table 3.
Cases submitted to the workshop “Aggressive Mastocytosis” of the 18th Meeting of the EAHP, Basel 2016, organized by the European Bone Marrow Working Group
| Case | Submitter | Panel diagnosis [remarks] | KIT mutation | Other aberrations |
|---|---|---|---|---|
| SM | ||||
| 239 | Dr. Kaur | ASM | KIT D816V | 45,X,-Y[20] |
| 319 | Dr. Llamas Gutierrez | ASM (possibly associated with myeloid neoplasm) | No KIT |
TET2 E1207G (48%), TET2 A727S (VAF 49%), JAK2 V617F (VAF 1.5%) Normal karyotype |
| 113 | Dr. Reinig | MCL (chronic subtype), aleukemic variant | KIT D826V | Normal karyotype |
| 293 | Dr. Patel | MCL, aleukemic variant | No KIT D816V |
SRSF2 P95H Normal karyotype |
| 209 | Dr. Margolskee | MCL (acute subtype) [History of UP] | KIT D816V | GATA1, FAM5C/BRINP3 and RUNX1 mutations* |
| 247 | Dr. Martinez Hernandez | ASM [History of ISM, progression to AML] |
KIT D816V |
KIT mutations also in non-MCs (CD34+ cells, eosinophils, monocytes, and granulocytes) ASM: KIT D816V + TET2 M1701I AML: KIT D816V + TET2 M1701I + RUNX1 R166Q |
| 294 | Dr. Bockelman | ASM [History of ISM, progression to SM (ASM)-AHN (AML)] |
KIT D816V | |
| 286 | Dr. Frederiksen | SM-AHN: SM (MCL, aleukemic) − AHN (AML-MRC) [after therapy: aleukemic MCL, no residual AML] |
KIT D816A | del(5q), del(7p), del(7q), del(17q) (including NF1), CN-LOH 21q (including RUNX1) Cytogenetic abnormalities shared between MCs and leukemic myeloid blasts |
| 331 | Dr. Goswami | SM-AHN: SM (SSM/MCL) − AHN (MDS-with ring sideroblasts and multilineage dysplasia) [Well differentiated SM] |
No KIT D816V |
SF3B1 K700E Normal karyotype |
| 349 | Dr. Cotta | SM-AHN: SM (MCL) − AHN (histiocytic sarcoma) with associated non-seminomatous mediastinal germ cell tumor |
No KIT | Germ cell tumor: PTPN11 F71L and TP53 M246L BM: normal karyotype |
| 208 | Dr. Green | SM-AHN: SM (ISM) − AHN (MDS EB1) [History of UP and ISM. During progression: myeloid sarcoma in meningeal biopsy. Progression to SM (ISM) − AHN (AML)] |
KIT D816V | 45, XY,-7 FLT3 and NPM1 mutation negative |
| 158 | Dr. Choi | SM-AHN: SM (MCL, aleukemic variant) − AHN, NOS [History of ISM and PMF] |
KIT D816V | IDH2 R140Q + prior reported mutations (2014 BM biopsy): KIT D816V, FBXW7 E117del, CSF3R E808K, SRSF2 P95R |
| MCS | ||||
| 241 | Dr. Canioni | MSC | No KIT D816V | |
| 230 | Dr. Churchill | MSC | KIT Y503_ F504insAY (exon 9, imatinib-sensitive mutation) | AML: trisomy 8, mutations in FLT3 S451F, IDH2 R140Q, and SRSF2 P95H MCS: KIT Y503_F504insAY, IDH2 R140Q, and SRSF2 P95H identical to the initial AML |
| 326 | Dr. Chen | MSC | No KIT | Complex karyotype |
| (Spectrum of) MML | ||||
| 160 | Dr. Oliveira | MDS/MPN-U with excess of blasts and increased metachromatic blasts [Transformation to AML-MRC] | No KIT |
ASXL1 G646Wfs*12 (VAF 28%) SETBP1 G870S (VAF 34%) Negative: BCR/ABL, JAK2 V617F, JAK2 exon 12, MPL exon 10, CALR exon 9, KIT D816V, KIT exons 8–11 and 17, MPL exons 10–11 |
| 193 | Dr. Ziarkiewicz-Wróblewska | Myeloid neoplasm most consistent with MCL | No KIT | Normal karyotype |
| Cutaneous mastocytosis (aggressive) | ||||
| 111 | Dr. Petrusevska | Diffuse cutaneous mastocytosis with severe systemic involvement and rapidly fatal outcome | Not available | Not available |
SM, systemic mastocytosis; ISM, indolent systemic mastocytosis; ASM, aggressive systemic mastocytosis; MCL, mast cell leukemia; MCS, mast cell sarcoma; UP, urticaria pigmentosa; SSM, smoldering systemic mastocytosis; AHN, associated hematological neoplasm; MML, myelomastocytic leukemia; AML, acute myeloid leukemia; MRC, myelodysplasia-related changes.
*
Exact mutation type not available.