7th Journée Maladies Rares en Hématologie & Médecine Interne, Necker

Vacuoles in bone marrow progenitors: VEXAS syndrome and beyond.

Valentin Lacombe, Jérome Hadjadj, Sophie Georgin-Lavialle, Christian Lavigne, Franck Geneviève, Olivier Kosmider

Summary :

The presence of vacuoles in myeloid and erythroid progenitor cells in bone marrow aspirates is a key feature of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. The mere observation of vacuolated progenitor cells is not specific to VEXAS syndrome; in this Viewpoint, we point out the causes to be considered in this situation. Vacuoles, in particular, can be observed in individuals with wild-type UBA1 and with persistent inflammatoryfeatures or myelodysplastic syndromes.

However, several clues support the diagnosis of VEXAS syndrome in the presence of vacuolated bone marrow progenitors: a high number of vacuolated progenitors and of vacuoles per cell, the predominance of vacuoles in early rather than late progenitors, and the vacuolisation of both myeloid and erythroid progenitors with predominance of myeloid ones. Some criteria derived from these observations have been proposed with great diagnostic performances. However, the absence or a low proportion of vacuolated cells should not prevent UBA1 gene sequencing.

Vacuoles in bone marrow progenitors: VEXAS syndrome and beyond.pdf

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Malignant Peritoneal Mesothelioma Complicating Familial Mediterranean Fever on 18F-FDG PET/CT

Antoine Fayand, MD,* Khaldoun Kerrou, MD,† Dominique Wendum, MD, PhD,‡

Gilles Grateau, MD, PhD,* and Sophie Georgin-Lavialle, MD, PhD*

Abstract:

A 77-year-old man with a personal history of Familial Mediterranean Fever presented with a slowly enlarging tumefaction of the left abdominal wall and persistent inflammatory syndrome despite good adherence to colchicine. 18F-FDG PET/CT showed a hypermetabolic muscular mass of the abdominal wall along with other hypermetabolic lesions including a peritoneal mass and several subcutaneous soft tissue nodules.

CT-guided needle biopsy led to the diagnosis of a muscular localization of a malignant peritoneal mesothelioma, which is an extremely rare complication of familial Mediterranean fever. Six courses of chemotherapy with carboplatin and pemetrexed allowed an almost complete response.

Key Words: malignant peritoneal mesothelioma, familial Mediterranean fever, autoinflammatory disorders, 18F-FDG PET/CT.