Chronic eosinophilic leukemia with a<i>FIP1L1-PDGFRA</i>rearrangement: Two case reports and a review of Korean cases

Shin, Sohee; Jung, Chan‐Hee; Choi, Dong-Chull; Lee, Byung‐Jae; Kim, Hee‐Jin; Kim, Sun‐Hee

doi:10.5045/br.2015.50.1.58

Cited by 5 publications

(5 citation statements)

References 8 publications

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“…Our patient is a case of chronic eosinophilic leukemia associated with PDGFRA rearrangement, presenting with severe eosinophilia and evidence of multi-organ damage. Several case reports and case series of patients with eosinophilia associated with FIP1L1/PDGFRA rearrangement, have been published from various countries [7][8][9][10][11][12][13][14][15][16][17][18]. In addition to the more common presentations, they have described the clinical features and outcome of this rare disease entity in paediatric patients, the occurrence of rare FIP1L1 breakpoint (located outside the usual breakpoint region) and atypical presentation of the disease with thrombotic thrombocytopenia purpura.…”

Section: Discussionmentioning

confidence: 99%

Severe Eosinophilia Associated with FIP1L1/PDGFRA Rearrangement Presenting with Yamaguchi Syndrome

Aamir¹,

Meraj²,

Hm³

2021

annhematoloncol

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FIP1L1/PDGFRA is a rare genetic rearrangement, presenting most commonly as Chronic Eosinophilic Leukemia (CEL), but may also be associated with other myeloid and lymphoid neoplasms. The peripheral blood and bone marrow exhibit a striking eosinophilia, often associated with an increased number of mast cells on trephine biopsy. Tissue infiltration by eosinophils and release of cytokines from eosinophilic granules mediate multi-organ tissue damage. The tyrosine kinase inhibitor Imatinib has been shown to induce rapid and complete clinical and haematological responses in patients harboring the mutation. We present the case of a young patient with CEL associated with PDGFRA rearrangement, presenting with severe eosinophilia and evidence of multi-organ damage (cardiac, renal, endocrine and respiratory). The peripheral blood and bone marrow displayed a striking eosinophila, and FISH analysis for FIP1L1/PDGFRA revealed a positive fusion signal in 92% of the nuclei examined. Echocardiography showed left ventricular apical hypertrophy (Yamaguchi syndrome), which has previously not been reported in this subset of patients. He was managed with supportive care, along with low-dose imatinib (100mg/day initially), to which he achieved a rapid clinical and haematological response. Currently, five months from the initial diagnosis, he is doing well on low dose imatinib (100 mg) twice a week.

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Section: Discussionmentioning

confidence: 99%

Severe Eosinophilia Associated with FIP1L1/PDGFRA Rearrangement Presenting with Yamaguchi Syndrome

Aamir¹,

Meraj²,

Hm³

2021

annhematoloncol

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“…While patients are commonly referred to the competent services with complaints of the respiratory tract, heart disease is the leading cause of morbidity and mortality, occurring in up to 50% of cases [15]. Endomyocardial fibrosis progresses into restrictive cardiomyopathy, apart from the thickening and fibrosis of the atrioventricular valves, with valve regurgitation and formation of intracardiac thrombi [13,14].…”

Section: Discussionmentioning

confidence: 99%

Successful Treatment For Chronic Eosinophilic Leukemia (CEL) With Imatinib Mesylate

Souza¹,

Tavares²,

Pimenta³

et al. 2017

int arch med

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We report a case of a patient with Chronic Eosinophilic Leukemia (CEL) with mutation in alfa PDGFR gene exhibiting a satisfactory response to treatment with imatinib mesylate. A 25-year-old man presented in a hematology service with a persistent cough and hemogram alterations. His blood count showed a hemoglobin level of 12.5 g/dL and a white blood cell count of 94,030/mm 3 , eosinophils were 68% of all cells. Bone marrow aspiration and biopsy showed hypercellularity with marked eosinophilia (77%) and erythroid differentiation series was hypocellular with normoblast maturation. The immunohistochemically of the bone biopsy was positive for myeloperoxidase and negative for CD34/CD99, consistent with CEL. Fluorescence in situ hybridization (FISH) for the beta-fraction of platelet-derived growth factor (PDGFRβ) and Philadelphia chromosome (Ph 1) were negative and the alfa PD-GFR (Platelet-Derived Growth Factor) was positive and showed heterozygosis in c.2531T>C on 18 Exon and homozygous in C.2562+1G>A at the region of the splicing site at the 18 intron. Treatment was initiated and maintained by administering 400mg/day imatinib mesylate. Laboratory findings returned to normal ranges, with clinical improvement and a hematological response observed after the second month of therapy. Currently, the patient's blood count shows the white blood cell count (5,400 total leukocytes), eosinophils (8.6/mm 3 ), hemoglobin (15.5 g/dl), hematocrit (45.4%) and platelets (298,000/mm 3 ) within normal ranges. The mutation search was negative in in peripheral blood one year after the initial treatment. Our work corroborates other studies on the efficacy of imatinib mesylate in the treatment of pa-

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“…Chronic eosinophilic leukemia (CEL) with FIP1L1/PDGFRA (factor interacting with PAPOLA and CPSF1/platelet-derived growth factor receptor α) rearrangement is a rare cause of hypereosinophilia, with few reports in Korea [ 1 ]. One of the most critical types of organ damage caused by infiltration with eosinophils is Loeffler endocarditis, with fibrous thickening of the endocardium leading to apical obliteration and restrictive cardiomyopathy.…”

mentioning

confidence: 99%

“…CEL with FIP1L1/PDGFRA rearrangement is very rare, and only four cases have been reported in Korea [ 1 ]. Two had cardiac findings with valvular regurgitation.…”

mentioning

confidence: 99%

Loeffler endocarditis in chronic eosinophilic leukemia with FIP1L1/PDGFRA rearrangement: full recovery with low dose imatinib

Kim

Lee

Choi

2018

Korean J Intern Med

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Chronic eosinophilic leukemia with aFIP1L1-PDGFRArearrangement: Two case reports and a review of Korean cases

Cited by 5 publications

References 8 publications

Severe Eosinophilia Associated with FIP1L1/PDGFRA Rearrangement Presenting with Yamaguchi Syndrome

Severe Eosinophilia Associated with FIP1L1/PDGFRA Rearrangement Presenting with Yamaguchi Syndrome

Successful Treatment For Chronic Eosinophilic Leukemia (CEL) With Imatinib Mesylate

Loeffler endocarditis in chronic eosinophilic leukemia with FIP1L1/PDGFRA rearrangement: full recovery with low dose imatinib

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