Myeloid Neoplasm With Eosinophilia and FIP1L1-PDGFRA Rearrangement Treated With Imatinib Mesylate: A Pediatric Case With Long-term Follow-up

Srinivasan, Anand; Scordino, Teresa; Baker, Ashley A.

doi:10.1097/mph.0000000000001446

Cited by 5 publications

(10 citation statements)

References 9 publications

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“…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).…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Discussionmentioning

confidence: 99%

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

Akiely

Almasri²,

Almasri³

et al. 2022

Front. Pediatr.

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According to the latest WHO classification of hematopoietic malignancies, myeloid and lymphoid neoplasms with eosinophilia and gene rearrangements include three specific rare diseases and one provisional entity. Myeloid/lymphoid neoplasms with platelet-derived growth factor receptor alpha (PDGFRA) rearrangements are the most frequent of these disorders and are usually present in adult males with a median age of the late 40s. Patients usually have chronic eosinophilic leukemia but can occasionally manifest as acute myeloid leukemia or extramedullary T- or B-lineage lymphoblastic lymphoma. We report a case of a previously healthy 2-year-old girl who presented with a right supraorbital swelling with no associated lymphadenopathy. Peripheral blood smear evaluation at initial presentation revealed microcytic hypochromic red blood cells and leukocytosis with marked eosinophilia, occasional myelocytes, and occasional blasts. Whole-body CT scans and PET scans revealed hypermetabolic potentially lymphomatous mass in the superior medial aspect of the right orbit in addition to splenomegaly but no evidence of hypermetabolic mediastinal, hilar, abdominal, or pelvic lymph nodes. Bone marrow aspirate and biopsy revealed hypercellular bone marrow with quantitatively decreased erythroid precursors and increased granulocytic precursors with 60% of the cells being eosinophilic cells in different stages of maturation. The diagnosis of myeloid neoplasm with eosinophilia and rearrangement of PDGFRA was made following confirmation by fluorescence in situ hybridization (FISH) test for FIP1L1-PDGFRA gene fusion. An incisional biopsy of the supraorbital mass revealed B-cell lymphoblastic lymphoma (B-LBL). FISH test for FIP1L1-PDGFRA gene fusion was positive in 70% of the cells studied. Thus, the final diagnosis was B-cell lymphoblastic lymphoma arising in the setting of myeloid/lymphoid neoplasm with eosinophilia and PDGFRA rearrangement. The patient was started on imatinib with concomitant therapy for B-LBL per the Children Oncology Group (COG) standard therapy for localized B-LBL and demonstrated a favorable outcome in the 2.5-year follow-up period. To our knowledge, this is the first pediatric case of myeloid/lymphoid neoplasm with PDGFRA rearrangement presenting with synchronous myeloproliferative disease and B-LBL. We present our diagnostic and management approach of this patient and review prior relevant pediatric cases of myeloid/lymphoid neoplasms with PDGFRA rearrangement.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

Akiely

Almasri²,

Almasri³

et al. 2022

Front. Pediatr.

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“…For most FGs with pathological significance, even if the positive rate of one single FG is relatively low, it still has definite significance in clinical diagnosis, treatment guidance, and MRD monitoring. 15,16 Thus, the detection of these rare FGs is also clinically significant. For example, FIP1L1-PDGFRA is rare in hematological malignancies; however, the FIP1L1-PDGFRA fusion protein is 100 times more sensitive than BCR-ABL1 to imatinib.…”

Section: Traditional Methods and Limitations Of Fgs Identificationmentioning

confidence: 99%

“…For example, FIP1L1-PDGFRA is rare in hematological malignancies; however, the FIP1L1-PDGFRA fusion protein is 100 times more sensitive than BCR-ABL1 to imatinib. 4,15 Even in the routine detection of FGs that are already well known, false negative results may occur because of variant fusion transcripts, such as BCR-ABL1 and their variant and rare isotypes. 17,18 Therefore, how to effectively identify rare and variant FGs poses great challenges for detection methods and data analysis.…”

Section: Traditional Methods and Limitations Of Fgs Identificationmentioning

confidence: 99%

Advances in Fusion Gene Research and Fusion Gene Families in Hematological Malignancies

Chen

Wang

et al. 2019

Int J Med Rev

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Fusion genes (FGs) are major molecular biological abnormalities in hematological malignancies and have become well-established molecular markers for disease classification, risk stratification, and targeted therapies. The long tail phenomenon is observed in the distribution of FGs, which means that except for dozens of the most common FGs, the positive rates of the other FGs are all below 1%, even if they have been frequently reported in the literature. However, the total positive rate of these singly relatively rare FGs is actually not low due to their wide variety and numerous members. We therefore put forward the conception "fusion gene family, FG-FM" to describe fusions that share one common protagonist gene with different partner genes. Most of the FGs in hematological malignancies discovered to date can be classified into about 20 major families. Based on the characteristics of the currently reported FGs, it can be expected that although a great many FGs may be identified in the future, the total number of FG-FMs is rather limited. FGs in the same FG-FM often have similarities in pathogenicity, clinical features, and treatment outcomes. Classifying FGs according to FG-FMs will aid in understanding their pathogenicity and optimizing detection schemes.

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“…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.…”

mentioning

confidence: 99%

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

et al. 2020

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Myeloid Neoplasm With Eosinophilia and FIP1L1-PDGFRA Rearrangement Treated With Imatinib Mesylate: A Pediatric Case With Long-term Follow-up

Cited by 5 publications

References 9 publications

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

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

Advances in Fusion Gene Research and Fusion Gene Families in Hematological Malignancies

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

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