Carried by: Maladies Hémorragiques (MHEMO) – France intergroupe des syndromes Myéloprolifératifs (FIM)
References:
Clinician(s): Jean Christophe IANOTT, Pierre HIRSCH
Biologist(s): Christine BELLANNE-CHANTELOT, Eric LIPPERT
Presentation
Classic myeloproliferative neoplasms other than chronic myeloid leukemia include primary polycythemia, essential thrombocythemia, and myelofibrosis. Familial forms account for 5-10% of cases of myeloproliferative neoplasms.
Some cases of thrombocytosis cannot be linked to a myeloproliferative neoplasm (triple negative), and additional tests to detect somatic or constitutional abnormalities may prove negative.
Whole genome sequencing may be justified in these two situations.
Criteria before considering a discussion in MDM-FMG
- Chronic thrombocytosis > 450 G/L for 6 months
- Exclusion of obvious causes (iron deficiency, inflammation, asplenia)
- Search for NMP driver mutations: JAK2V617F, CALR (exon 9), MPLW515
For familial MPN:
- Exclusion of dup14q32 if originating in Martinique
- At least 2 related cases with myeloid pathology or a single case with severity criteria or age under 40
- Family tree
For unexplained thrombocytosis:
- Somatic myeloid NGS panel covering genes frequently mutated in MPNs that do not explain the clinical picture
- Absence of germline variants of interest found in JAK2, MPL, and THPO
Trio analysis if possible, or duo or solo analysis
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM ‘Diagnostic dead ends’, MHEMO programme
National
Paris, Brest