We report a 29-year-old man with double hip pain and lower limb weakness for 6 months with myeloid neoplasm with FIP1L1-PDGFRA rearrangement without marked peripheral blood eosinophilia. Nested reverse transcription polymerase chain reaction demonstrated that bone marrow was positive for FIP1L1-PDGFRA rearrangement. The patient consequently received imatinib treatment at a dosage of 100 mg daily. Two weeks later, white blood cell counts were normalized. The double hip pain disappeared gradually. FIP1L1-PDGFRA fusion by reverse transcription polymerase chain reaction was still positive at 3 months. His 9-month post-treatment complete blood cell count, peripheral blood and bone marrow biopsy were all normal. FIP1L1 was unrearranged. The patient continues to be treated with imatinib 100 mg daily for more than 2 years with no recurrence. The presence of PDGFRA rearrangement in this case conferred a high sensitivity to imatinib treatment and a favorable clinical outcome.
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http://dx.doi.org/10.2217/pgs.15.159 | DOI Listing |
Pathology
November 2024
Department of Haematology, Monash Health, Clayton, Vic, Australia; Department of Diagnostic Genomics, Monash Health, Clayton, Vic, Australia; School of Clinical Sciences, Monash University, Clayton, Vic, Australia. Electronic address:
Haematological malignancies are being increasingly defined by gene rearrangements, which have traditionally been detected by karyotype, fluorescent in situ hybridisation (FISH) or reverse-transcriptase polymerase chain reaction (RT-PCR). However, these traditional methods may miss cryptic gene rearrangements and are limited by the number of gene rearrangements screened at any one time. A next-generation sequencing (NGS) RNA fusion panel is an evolving technology that can identify multiple fusion transcripts in a single molecular assay, even without prior knowledge of breakpoints or fusion partners.
View Article and Find Full Text PDFAnn Hematol
January 2024
Department of Hematology, The First Affiliated Hospital, Zhejiang University School of Medicine, #79 Qingchun Rd, Hangzhou, 310003, Zhejiang, People's Republic of China.
Cureus
August 2023
Hematology, Zucker School of Medicine, Hempstead, USA.
A 45-year-old man from El Salvador with no past medical history presented with cough and chest pain. Investigations revealed 60% peripheral eosinophilia (absolute count 12.3 K/uL).
View Article and Find Full Text PDFJ Dermatol
October 2023
Hematology Division, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Lymphomatoid papulosis (LyP) is a benign condition, listed among primary cutaneous CD30+ lymphoproliferative disorders. Its typical picture consists of relapsing-remitting papular lesions and it can be encountered in the course of a hematologic disease, at times representing its first manifestation. Hypereosinophilic syndromes are a heterogeneous group of disorders characterized by persistent peripheral blood hypereosinophilia that may lead to life-threatening organ damage.
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