Hypereosinophilia and severe bone disease in an African child: an unexpected diagnosis

Abstract

Hypereosinophilic syndromes are rare in children. Sporadic, mild-severity FIP1L1-platelet-derived growth factor receptor α (PDGFRα) rearrangement cases have been reported, mainly in boys. We present the case of a 5-year-old girl referred from her African country of birth, due to severe constitutional symptoms, multifocal bone pain, headache, gastrointestinal complaints, cardiomyopathy and unexplained hypereosinophilia. She presented multiple end-organ diseases and striking bone involvement. Although she had a positive serology for Strongyloides stercoralis, extensive evaluation detected a FIP1L1-PDGFRA fusion gene. Systemic corticosteroids and low-dose imatinib were started and the child became asymptomatic. After 9 months of treatment, FIP1L1-PDGFRA was no longer detected.

Case Report: Pediatric myeloid/lymphoid neoplasm with eosinophilia and PDGFRA rearrangement: The first case presenting as B-lymphoblastic lymphoma

“…After the FIP1L1-PDGFRA fusion gene was identified, the diagnosis was modified to FIP1L1-PDGFRApositive CEL and the authors declared the intent of initiation of imatinib if their patient exhibits a second relapse (4). All subsequent reported pediatric cases included imatinib in their treatment plan (5,(7)(8)(9)(10)(11)(12)(13)(14). Favorable outcomes were reported in all cases except the case presenting as T-LBL that was reported by Oberley et al in 2017 (10).…”

“…Discontinuation of imatinib has been associated with relapse in FIP1L1/PDGFRA -positive chronic eosinophilic leukemia in both adult and pediatric cases ( 6 , 17 , 18 ). Although few authors reported maintained remission after decreasing imatinib maintenance dose, there is a lack of consensus regarding the optimal maintenance duration ( 11 , 12 ). It is advised that patients remain on regular follow-up by molecular monitoring to dictate optimal duration of continuation therapy.…”

Sustained Complete Molecular Remission With Imatinib Monotherapy in a Child Presenting With Blast Phase FIP1L1‐PDGFRA‐Associated Myeloid Neoplasm With Eosinophilia

“… 1 Among the eight pediatric FIP1L1-PDGFRA cases summarized in Table 1 , seven presented as chronic MPNs with eosinophilia, while one presented as T-ALL/T-LLy without eosinophilia. 2 – 9 Only 1/7 chronic MPN cases had elevated BM blasts at 10%. 8 …”

“… 1 This disease is extremely uncommon in children and only 8 FIP1L1-PDGRFA cases have previously been described. 2 – 9 …”

“…1 This disease is extremely uncommon in children and only 8 FIP1L1-PDGRFA cases have previously been described. [2][3][4][5][6][7][8][9] A rare presentation of this entity, only previously reported in adults, is blast phase disease with >20% blasts in the peripheral blood (PB) or bone marrow (BM), and/or as extramedullary disease. 1,10,11 Such a presentation is often difficult to distinguish from AML, and is typically accompanied with massive splenomegaly and peripheral eosinophilia.…”