PMID- 36589160
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230103
IS  - 2296-2360 (Print)
IS  - 2296-2360 (Electronic)
IS  - 2296-2360 (Linking)
VI  - 10
DP  - 2022
TI  - Case Report: Pediatric myeloid/lymphoid neoplasm with eosinophilia and PDGFRA 
      rearrangement: The first case presenting as B-lymphoblastic lymphoma.
PG  - 1059527
LID - 10.3389/fped.2022.1059527 [doi]
LID - 1059527
AB  - 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.
CI  - (c) 2022 Akiely, Almasri, Almasri and Abu-Ghosh.
FAU - Akiely, Reem
AU  - Akiely R
AD  - Pediatric Department, King Hussein Cancer Center (KHCC), Amman, Jordan.
FAU - Almasri, Farah
AU  - Almasri F
AD  - Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.
FAU - Almasri, Nidal
AU  - Almasri N
AD  - Department of Pathology and Laboratory Medicine, King Hussein Cancer Center 
      (KHCC), Amman, Jordan.
FAU - Abu-Ghosh, Amal
AU  - Abu-Ghosh A
AD  - Pediatric Department, King Hussein Cancer Center (KHCC), Amman, Jordan.
LA  - eng
PT  - Case Reports
DEP - 20221214
PL  - Switzerland
TA  - Front Pediatr
JT  - Frontiers in pediatrics
JID - 101615492
PMC - PMC9794852
OTO - NOTNLM
OT  - B-cell lymphoblastic lymphoma (B-LBL)
OT  - PDGFRA
OT  - eosinophilia
OT  - imatinib
OT  - myeloid/lymphoid neoplasms
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2023/01/03 06:00
MHDA- 2023/01/03 06:01
PMCR- 2022/12/14
CRDT- 2023/01/02 03:51
PHST- 2022/10/01 00:00 [received]
PHST- 2022/11/22 00:00 [accepted]
PHST- 2023/01/02 03:51 [entrez]
PHST- 2023/01/03 06:00 [pubmed]
PHST- 2023/01/03 06:01 [medline]
PHST- 2022/12/14 00:00 [pmc-release]
AID - 10.3389/fped.2022.1059527 [doi]
PST - epublish
SO  - Front Pediatr. 2022 Dec 14;10:1059527. doi: 10.3389/fped.2022.1059527. 
      eCollection 2022.