Carried by: MariH
References:
Clinician(s): Flore SICRE DE FONTBRUNE, Thierry LEBLANC, Cécile RENARD
Biologist(s): Jean SOULIER, Caroline KANNENGIESSER, Lise LARCHER
Presentation
Suspected inherited bone marrow failure (IBMF) in children and adults for which NGS panels from reference laboratories have not enabled a genetic diagnosis to be made.
Criteria before considering a discussion in MDM-FMG
The main factors favoring an IBMF are:
- Family history of bone marrow failure, cytopenia, myeloid malignancy, interstitial lung disease or liver fibrosis, unexplained cancers
- History of death related to a haemorrhagic syndrome in siblings
- Affection of several members of the same sibling group
- Consanguinity
- Short stature
- Malformations or skin pigmentation abnormalities
- First symptoms before the age of 4
- No PNH clone
- Elevated foetal haemoglobin
- Associated immune deficiency
- Failure of immunosuppressive treatments
MDM on the 1st and 3rd Wednesday of each month at 2.30 p.m.
Information: aplasiemedullaire.com
Contact to submit a case: rcp.aplasiemedullaire.sls@aphp.fr
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact