{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:58:09Z","timestamp":1740149889183,"version":"3.37.3"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T00:00:00Z","timestamp":1711324800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T00:00:00Z","timestamp":1711324800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hematopathol"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gamma delta (\u03b3\u03b4) T-cell acute lymphoblastic leukemia\/lymphoma (T-ALL) is a rare, aggressive subtype of T-lymphoid leukemia that accounts for only 9\u201312% of all T-ALL cases. Herein, we report the case of an 8-year-old boy who presented with facial swelling, shortness of breath, and progressive cervical and axillary lymphadenopathy. Pathological examination, flow cytometry (Navios, Beckman Coulter ClearLLab 10C 10-color T-cell panel [containing FITC-labeled TCR \u03b3\u03b4 antibody]), chromosomal analysis, interphase FISH, and targeted DNA-based NGS (34-gene Illumina TruSeq Myeloid Panel) were performed. Flow cytometry evaluation of a lymph node biopsy specimen revealed an immature T-cell population positive for CD4, CD3, CD2 (subset\u00a0positive), CD5, CD7, CD38, CD1a, cytoplasmic terminal deoxynucleotidyl transferase (cyto-TdT), CD30 (subset positive), and T-cell receptor (TCR) gamma delta (\u03b3\u03b4). Microscopic examination of an enlarged lymph node and bone marrow showed involvement by a dense, diffuse, neoplastic infiltrate. Interphase FISH revealed a copy number loss of <jats:italic>PDGFRB<\/jats:italic> (5q32) in 90.5% of interphase nuclei. Targeted DNA-based NGS detected a tier II oncogenic variant in <jats:italic>NOTCH1<\/jats:italic> (c.7375C\u2009&gt;\u2009T, p.Gln2459Ter) at a VAF of 21%. This case of \u03b3\u03b4 T-ALL highlights a rare entity and adds to the literature, albeit scant, which may aid in better recognition and classification.<\/jats:p>","DOI":"10.1007\/s12308-024-00578-7","type":"journal-article","created":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T20:01:41Z","timestamp":1711396901000},"page":"103-107","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Gamma-delta T-cell acute lymphoblastic lymphoma\/leukemia: a report of a rare entity"],"prefix":"10.1007","volume":"17","author":[{"given":"Giby V.","family":"George","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maggie","family":"Kajstura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew G.","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3702-1123","authenticated-orcid":false,"given":"Chauncey R.","family":"Syposs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,3,25]]},"reference":[{"issue":"8","key":"578_CR1","doi-asserted-by":"publisher","first-page":"1599637","DOI":"10.1080\/2162402X.2019.1599637","volume":"8","author":"CH Pui","year":"2019","unstructured":"Pui CH, Pei D, Cheng C et al (2019) Treatment response and outcome of children with T-cell acute lymphoblastic leukemia expressing the gamma-delta T-cell receptor. Oncoimmunology 8(8):1599637. https:\/\/doi.org\/10.1080\/2162402X.2019.1599637","journal-title":"Oncoimmunology"},{"issue":"3","key":"578_CR2","doi-asserted-by":"publisher","first-page":"1520","DOI":"10.1159\/000512188","volume":"13","author":"S Kohla","year":"2020","unstructured":"Kohla S, Ibrahim F, Bilal I, Al Kuwari E, Al-Sabbagh A (2020) A challenging case of gamma delta T-cell lymphoma with precursor T-cells and marked eosinophilia: a case report. Case Rep Oncol 13(3):1520\u20131529. https:\/\/doi.org\/10.1159\/000512188","journal-title":"Case Rep Oncol"},{"key":"578_CR3","doi-asserted-by":"publisher","first-page":"5873015","DOI":"10.1155\/2017\/5873015","volume":"2017","author":"EX Wei","year":"2017","unstructured":"Wei EX, Leventaki V, Choi JK et al (2017) Gammadelta T-cell acute lymphoblastic leukemia\/lymphoma: discussion of two pediatric cases and its distinction from other mature gammadelta T-cell malignancies. Case Rep Hematol 2017:5873015. https:\/\/doi.org\/10.1155\/2017\/5873015","journal-title":"Case Rep Hematol"},{"key":"578_CR4","doi-asserted-by":"crossref","unstructured":"Alaggio R, Catalina A, Anagnostopoulos I, Attygalle AD, Araujo IBO, Berti E, Bhagat G, Borges AM, Boyer D, Calaminici M, Chadburn A, Chan JKC, Cheuk W, Chng WJ, Choi JK, Chuang SS, Coupland SE, Czader M, Dave SS, de Jong D, Du MQ, Elenitoba-Johnson KS, Ferry J, Geyer J, Gratzinger D, Guitart J, Gujral S, Harris M, Harrison CJ, Hartmann S, Hochhaus A, Jansen PM, Karube K, Kempf W, Khoury J, Kimura H, Klapper W, Kovach AE, Kumar S, Lazar AJ, Lazzi S, Leoncini L, Leung N, Leventaki V, Li XQ, Lim MS, Liu WP, Louissaint A, Jr, Marcogliese A, Medeiros LJ, Michal M, Miranda RN, Mitteldorf C, Montes-Moreno S, Morice W, Nardi V, Naresh KN, Natkunam Y, Ng SB, Oschlies I, Ott G, Parrens M, Pulitzer M, Rajkumar SV, Rawstron AC, Rech K, Rosenwald A, Said J, Sarkozy C, Sayed S, Saygin C, Schuh A, Sewell W, Siebert R, Sohani AR, Tooze R, Traverse-Glehen A, Vega F, Vergier B, Wechalekar AD, Wood B, Xerri L, Xiao W (2022) The 5th edition of the World Health Organization classification of haematolymphoid tumours: lymphoid neoplasms. Leukemia 36:1720\u201348","DOI":"10.1038\/s41375-022-01620-2"},{"issue":"3","key":"578_CR5","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1097\/MPH.0000000000002043","volume":"43","author":"H Fujino","year":"2021","unstructured":"Fujino H, Nii S, Sumimoto S (2021) Mediastinal Gamma-delta T-cell lymphoblastic lymphoma successfully treated with chemotherapy alone. J Pediatr Hematol Oncol 43(3):117\u2013118. https:\/\/doi.org\/10.1097\/MPH.0000000000002043","journal-title":"J Pediatr Hematol Oncol"},{"issue":"11","key":"578_CR6","doi-asserted-by":"publisher","first-page":"1792","DOI":"10.1093\/annonc\/mdf293","volume":"13","author":"T Saito","year":"2002","unstructured":"Saito T, Matsuno Y, Tanosaki R, Watanabe T, Kobayashi Y, Tobinai K (2002) Gamma delta T-cell neoplasms: a clinicopathological study of 11 cases. Ann Oncol 13(11):1792\u20138. https:\/\/doi.org\/10.1093\/annonc\/mdf293","journal-title":"Ann Oncol"},{"issue":"3","key":"578_CR7","doi-asserted-by":"publisher","first-page":"137","DOI":"10.14740\/jh535","volume":"8","author":"W Wang","year":"2019","unstructured":"Wang W, Li Y, Ou-Yang M et al (2019) Gamma-delta T-cell acute lymphoblastic leukemia\/lymphoma: immunophenotype of three adult cases. J Hematol 8(3):137\u2013140. https:\/\/doi.org\/10.14740\/jh535","journal-title":"J Hematol"},{"key":"578_CR8","unstructured":"Matos DM, Rizzatti EG, Fernandes M, Buccheri V, Falcao RP (2005) Gammadelta and alphabeta T-cell acute lymphoblastic leukemia: comparison of their clinical and immunophenotypic features. Haematologica 90(2):264\u20136. https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15710586. Accessed 28 Jan 2024"},{"key":"578_CR9","doi-asserted-by":"publisher","unstructured":"Kimura S, Polonen P, Montefiori L, et al (2023) Biologic and clinical features of childhood gamma delta T-ALL: identification of STAG2\/LMO2 gammadelta T-ALL as an extremely high risk leukemia in the very young. medRxiv.\u00a0https:\/\/doi.org\/10.1101\/2023.11.06.23298028.","DOI":"10.1101\/2023.11.06.23298028"},{"issue":"8","key":"578_CR10","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1038\/ng.3909","volume":"49","author":"Y Liu","year":"2017","unstructured":"Liu Y, Easton J, Shao Y et al (2017) The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia. Nat Genet 49(8):1211\u20131218. https:\/\/doi.org\/10.1038\/ng.3909","journal-title":"Nat Genet"}],"container-title":["Journal of Hematopathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12308-024-00578-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12308-024-00578-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12308-024-00578-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,25]],"date-time":"2024-05-25T07:15:46Z","timestamp":1716621346000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12308-024-00578-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,25]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["578"],"URL":"https:\/\/doi.org\/10.1007\/s12308-024-00578-7","relation":{},"ISSN":["1868-9256","1865-5785"],"issn-type":[{"type":"print","value":"1868-9256"},{"type":"electronic","value":"1865-5785"}],"subject":[],"published":{"date-parts":[[2024,3,25]]},"assertion":[{"value":"11 January 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 March 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 March 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"For this type of study formal consent is not required.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"For this type of study informed consent is not required.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"For this type of study, formal consent is not required.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"For this type of study, consent for publication is not required.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}