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Myeloid/Lymphoid Neoplasm with FGFR1 Rearrangement Presenting with Polycythemia Vera and T-cell Acute Lymphoblastic Leukemia.
Marinelli, Lisa M; Romain, Joshua T; Ehman, William; Ortega, Veronica; Velagaleti, Gopalrao; Gibbons, Thomas F; Nazario-Toole, Ashley; Holmes, Allen R.
Afiliação
  • Marinelli LM; Department of Pathology and Area Laboratory Services, Brooke Army Medical Center, 3551 Roger Brooke Dr, Fort Sam Houston, TX, USA, 78234. Electronic address: marinellilisa15@gmail.com.
  • Romain JT; Department of Hematology-Oncology, Brooke Army Medical Center, 3551 Roger Brooke Dr, Fort Sam Houston, TX, USA, 78234. Electronic address: Joshua.t.romain.mil@mail.mil.
  • Ehman W; Department of Pathology and Laboratory Medicine, UT Health San Antonio, 7703 Floyd Curl Dr, San Antonio, TX, USA, 78229. Electronic address: ehman@uthscsa.edu.
  • Ortega V; Department of Pathology and Laboratory Medicine, UT Health San Antonio, 7703 Floyd Curl Dr, San Antonio, TX, USA, 78229. Electronic address: ortegav@uthscsa.edu.
  • Velagaleti G; Department of Pathology and Laboratory Medicine, UT Health San Antonio, 7703 Floyd Curl Dr, San Antonio, TX, USA, 78229. Electronic address: velagaleti@uthscsa.edu.
  • Gibbons TF; Clinical Investigations & Research Support Laboratory, Wilford Hall Ambulatory Surgical Center, 1100 Wilford Hall Loop, Lackland AFB, TX, USA, 78236. Electronic address: Thomas.f.gibbons6.civ@mail.mil.
  • Nazario-Toole A; Clinical Investigations & Research Support Laboratory, Wilford Hall Ambulatory Surgical Center, 1100 Wilford Hall Loop, Lackland AFB, TX, USA, 78236. Electronic address: Ashley.e.nazario-toole.civ@mail.mil.
  • Holmes AR; Department of Pathology and Area Laboratory Services, Brooke Army Medical Center, 3551 Roger Brooke Dr, Fort Sam Houston, TX, USA, 78234. Electronic address: allen.r.holmes2.mil@mail.mil.
Cancer Genet ; 276-277: 43-47, 2023 08.
Article em En | MEDLINE | ID: mdl-37480761
Myeloid/lymphoid neoplasm with fibroblast growth factor 1 rearrangements (MLN-FGFR1) represents a rare group of hematologic neoplasms, with approximately 100 cases reported to date. A 69-year-old woman with a history of polycythemia and leukocytosis, with negative molecular testing for JAK2, CALR, and MPL, presented with diffuse adenopathy. A lymph node (LN) biopsy revealed effacement by T-lymphoblasts, consistent with T-cell acute lymphoblastic lymphoma (T-ALL). A staging bone marrow (BM) biopsy demonstrated trilineage hyperplasia, which, taken together with the patient's elevated hemoglobin and low serum erythropoietin level, fulfilled diagnostic criteria for polycythemia vera. Karyotype and fluorescence in situ hybridization on both the BM and LN demonstrated a FGFR1 rearrangement due to t(8;13), consistent with MLN-FGFR1. Whole genome sequencing on the LN additionally identified a pathogenic frameshift mutation of ASXL1 NC_000020.11:g32434646dup NM_015338.6(ASXL1):c.1934dup p.(Gly646Trpfs) predicted to result in loss of protein function, a finding also observed in 8.1% of BM reads. Both the BM and LN harbored missense variants in HDAC4 NM_001378414.1(HDAC4):c.[2763G>A]; [2763=] p.(Met921Ile) and CHEK2 NM_007194.4(CHEK2):c.[538C>T];[538=] p.(Arg180Cys), with an unknown significance. Despite initial response to Mini-CVD + venetoclax, the patient subsequently experienced rapid clinical deterioration and death. We report the second case of MLN-FGFR1 with an ASXL1 mutation and the first case with HDAC4 and CHEK2 variants.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Policitemia Vera / Leucemia-Linfoma Linfoblástico de Células Precursoras / Leucemia-Linfoma Linfoblástico de Células T Precursoras / Transtornos Mieloproliferativos Tipo de estudo: Prognostic_studies Limite: Aged / Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Policitemia Vera / Leucemia-Linfoma Linfoblástico de Células Precursoras / Leucemia-Linfoma Linfoblástico de Células T Precursoras / Transtornos Mieloproliferativos Tipo de estudo: Prognostic_studies Limite: Aged / Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article