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

Jain, Juhi; Weinzierl, Elizabeth; Saxe, Debra; Bergsagel, John; Gotlib, Jason; Reiter, Andreas; Raikar, Sunil S.

doi:10.1097/hs9.0000000000000486

Cited by 3 publications

(5 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…MLN‐eo with FIP1L1‐PDGFRA rearrangement is rare, with less than 200 reported total cases and only nine previously reported pediatric cases 8,9 . Patients are responsive to treatment with imatinib and have a 10‐year overall survival of 86% 4,5 .…”

Section: Discussionmentioning

confidence: 99%

“…7 MLN-eo with FIP1L1-PDGFRA rearrangement is rare, with less than 200 reported total cases and only nine previously reported pediatric cases. 8,9 Patients are responsive to treatment with imatinib and have a 10-year overall survival of 86%. 4,5 Despite symptomatic improvement, it is currently unknown if imatinib can reverse eosinophil-related organ damage.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Two pediatric oncologic cases of hypereosinophilic syndrome and review of the literature

2022

View full text Add to dashboard Cite

Background Persistent peripheral blood hypereosinophilia may cause tissue damage, leading to hypereosinophilic syndrome (HES) with end‐organ dysfunction. Here we discuss two unique pediatric cases of primary hypereosinophilic syndrome with oncologic etiologies to highlight the importance of early recognition, workup and treatment of HES. Case 1 A previously healthy 7‐year‐old male presented with acute myocardial infarction and transient ischemic attack and found to have significant hyperleukocytosis with a total white blood count of 131 000 and hypereosinophilia with an absolute eosinophil count of 99 560. He was ultimately diagnosed with precursor B‐cell acute lymphoblastic leukemia with immunoglobulin heavy chain gene rearrangement. He completed standard treatment without significant complications and remains in remission at about 2 years off therapy. He is in overall good health and has normal cardiac function. Case 2 A 13‐year‐old female was referred for iron deficiency and reported a history of severe anxiety, shortness of breath and anorexia. She had experienced fatigue and dizziness associated with frequent panic attacks and shortness of breath with strenuous activity since the age of five. Serial laboratory investigations revealed persistent hypereosinophilia (AEC 4000‐6000/μl). Additional workup revealed elevated vitamin B12 (>2000 pg/ml; normal range: 243–894) and tryptase (16.4 ng/ml; normal range: ≤10.9). The FIP1L1‐PDGFRA gene fusion was detected by fluorescence in situ hybridization (FISH) on peripheral blood, diagnostic for myeloid/lymphoid neoplasm with eosinophilia. Evaluation for end‐organ damage associated with persistent hypereosinophilia included an echocardiogram which revealed severe restrictive cardiomyopathy with pulmonary hypertension. Monotherapy with imatinib was initiated, after which she achieved a rapid hematologic response and remains in molecular remission, though she continues to have persistent asymptomatic severe pulmonary hypertension in the setting of severe diastolic dysfunction. Conclusion Persistent hyperosinophilia can be a silent cause of significant and often irreversible tissue damage and should therefore always prompt workup for both primary and secondary causes.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Two pediatric oncologic cases of hypereosinophilic syndrome and review of the literature

2022

View full text Add to dashboard Cite

show abstract

“…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%

“…Despite the well-known and very strong male predominance in adult cases of hypereosinophilic syndromes (HES), in general, and myeloid/lymphoid neoplasms with PDGFRA rearrangements, in particular, pediatric cases demonstrate a less pronounced male predominance ( 13 , 15 ). In adults, patients with M/LN-Eo with PDGFRA rearrangements usually present as CEL, but can rarely manifest as AML, SM with hypereosinophilia, or extramedullary T-LBL/B-LBL ( 2 ).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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.

View full text Add to dashboard Cite

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.

show abstract

Clinical Response to Upfront Targeted Tyrosine Kinase Inhibitors among Patients with Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusion

Zhang

Nguyen

et al. 2023

Clinical Lymphoma Myeloma and Leukemia

View full text Add to dashboard Cite

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

Cited by 3 publications

References 15 publications

Two pediatric oncologic cases of hypereosinophilic syndrome and review of the literature

Two pediatric oncologic cases of hypereosinophilic syndrome and review of the literature

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

Clinical Response to Upfront Targeted Tyrosine Kinase Inhibitors among Patients with Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusion

Contact Info

Product

Resources

About