Table 4 Types of CALR mutations in our patients. All mutations were searched for in the COSMIC or the HGMD database and are labelled with their COSMIC or HGMD identity number if it existed at the time of search. All mutations that were not found in the COSMIC and HGMD databases do not have a COSMIC or HGMD identity number and are, to our knowledge, newly identified mutations that have not yet been defined. Newly identified mutations in our patients are marked in bold. Non-frameshift mutations are underlined.
Patient number | CALR genetic variant | Type of mutation | COSMIC or HGMD ID | Confirmed somatic (database COSMIC) | Diagnosis at the Department of Haematology |
|---|---|---|---|---|---|
1 | NM_004343.3 (CALR):c.1127_1145del19, p.(Arg376Glnfs*48) | Type 2-like | None | No, status unknown | ET 2008 WHO |
2 | NM_004343.3 (CALR):c.1099_1150del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | High suspicion for ET |
3 | NM_004343.3 (CALR):c.1099_1150del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | ET 2008 WHO |
4 | NM_004343.3 (CALR):c.1099_1150del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | PMF 2008 WHO |
5 | NM_004343.3 (CALR):c.1154_1154delAinsGTTGTC, p.(Lys385Serfs*47) | Type 2-like | None | No, status unknown | ET 2008 WHO |
6 | NM_004343.3 (CALR):c.1154_1155insTTGTC, p.(Lys385Asnfs*47) | Type 2 | COSM1738056 | Yes | High suspicion for ET |
7 | NM_004343.3 (CALR):c.1099_1150del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | ET 2008 WHO |
8 | NM_004343.3 (CALR):c.1099_1150del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | PMF 2008 WHO |
9 | NM_004343.3 (CALR):c.1154_1154delAinsTTTATC, p.(Lys385Ilefs*47) | Type 2-like | None | No, status unknown | High suspicion for ET |
10 | NM_004343.3 (CALR):c.1099_1150del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | High suspicion for ET |
11 | NM_004343.3 (CALR):c.1099_1150del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | High suspicion for ET |
12 | NM_004343.3 (CALR):c.1092_1143del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | High suspicion for ET |
13 | NM_004343.3 (CALR):c.1092_1143del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | ET 2008 WHO |
14 | NM_004343.3 (CALR):c.1092_1143del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | PMF 2008 WHO |
15 | NM_004343.3 (CALR):c.1154_1155insTTGTC, p.(Lys385Asnfs*47) | Type 2 | COSM1738056 | Yes | ET 2008 WHO |
16 | NM_004343.3 (CALR):c.1092_1143del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | PMF 2008 WHO |
17 | NM_004343.3 (CALR):c.1092_1143del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | ET 2008 WHO |
18 | NM_004343.3 (CALR):c.1142_1144delAGG, p.(Glu381del) | In-frame mutation | CD176098 | Status unknown, probably germline | MPN-unclassifiable (MPN-U) |
19 | NM_004343.3 (CALR):c.1194 G > T, p.(Glu398Asp) | Missense mutation | COSM1738023 | No, status unknown | Reactive thrombocytosis |
20 | NM_004343.3 (CALR):c.1132_1153del22, p.(Glu378Argfs*45) | Type 2-like | None | No, status unknown | High suspicion for ET |
21 | NM_004343.3 (CALR):c.1114_1144del31, p.(Glu372Glnfs*48) | Type 2-like | COSM3734991 | No, status unknown | High suspicion for ET |
22 | NM_004343.3 (CALR):c.1092_1143del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | High suspicion for ET |
23 | NM_004343.3 (CALR):c.1099_1150del52, p.(Leu367Thrfs*46) | Type 1 | COSM1738055 | Yes | CMML |
