FIGURE 1
(A) MGG stained cytospin (50X) from pleural puncture at D13 showing a
pathological promyelocyte with Auer rods in a mixed inflammatory cells
infiltrate including mesothelial cells and lymphocytes (B) MGG stained
smear from the pleural puncture (50X) showing another pathognomonic APL
promyelocyte with numerous Auer rods (C) FISH analysis with PML and RARA
double fusion probes demonstrating the presence of PML-RARAfusion rearrangement.
Gorham’s disease is a rare disorder of unknown etiology characterized by
massive osteolysis, angiomatosis involving blood vessels and more rarely
lymph vessels5. Bone involvement is variable and can
lead to destruction of osseous matrix. Pleural effusions or chylothorax
may occur. Our patient was affected by a disabling osteolysis of pelvic
bone treated by bisphosphonates which contraindicated iliac bone marrow
puncture or biopsy. The previous thoracic radiotherapy and the
angiogenesis associated with Gorham’s disease, may explain the recurrent
non contributive diluted sternal aspirations. Blood molecular tests did
not allow us to confirm the diagnosis of APL, NGS myeloid panel did not
detect any somatic mutation in agreement with the absence of abnormal
circulating cells. FISH analysis performed on D10 BM puncture was
negative for PML-RARA fusion.
Considering the absence of circulating blasts and the observation of
typical pathological promyelocytes only in the pleural fluid, the
diagnosis of myeloid sarcoma (extramedullary APL) was retained. On D17,
oral all-trans retinoic acid (ATRA) treatment 45 mg/m²/day (60 mg) was
started with addition three days later of arsenic trioxide (ATO) 0.15
mg/Kg intravenous over 2 hours daily according to APL0406 protocol.
Treatment was well tolerated.
Pleural fluid collected at D27 revealed differentiated granulocytic
cells with persistent Auer rods, hypergranular cells and a significant
eosinophilic contingent up to 35% of putative reactive origin.
Thereafter, we confirmed the absence of pathological cells on two
consecutive pleural punctures realized at D33 and D38. The treatment by
ATRA/ATO combination was thus found to be well tolerated and efficient
in our patient. Three months after the diagnosis, the patient was in
cytological and molecular remission. She had oral ATRA (70 mg/day) 2
weeks per month as consolidation treatment.
BM sternal puncture was not contributive due to Gorham’s disease, and it
could not be repeated on iliac crest due to the osteolysis associated
with this disease. When myeloid sarcoma is diagnosed in association with
bone marrow leukemic infiltration in favor of APL, a circulating phase
with the presence of blasts should be observed in association with
t(15;17) (q24;q21) translocation and the presence of the PML-RARAfusion transcript. In our case, no involvement of peripheral blood and
diluted BM were observed. However, the demonstration of characteristic
promyelocytes, without concomitant circulating blasts, nor cytogenetic
anomaly or molecular criteria on blood and diluted BM, was in the line
with the diagnostic of de novo MS without concomitantly APL. Due to
therapeutic emergency of this clinical presentation, ATRA-ATO based
chemotherapy should be required, and has been rapidly initiated with
success and good tolerance.
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