{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T07:07:07Z","timestamp":1784185627987,"version":"3.55.0"},"reference-count":23,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T00:00:00Z","timestamp":1783900800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Natural killer cell large granular lymphocytic leukemia (NK-LGLL) is a rare and heterogenous lymphoproliferative disorder. This study retrospectively evaluated 35 consecutive Chinese patients (median age 58 years) to evaluate their unique clinical\u2013biological profiles and treatment responses. Our Chinese population exhibited a distinct comorbidity spectrum, characterized by a lower prevalence of concurrent arthritis (2.9%) and secondary malignancies, compared with Western cohorts. At diagnosis, 31.4% of the cohort had neutropenia, 42.9% had anemia, and 31.4% had thrombocytopenia. The median large granular lymphocyte count was 3.9 \u00d7 109\/L (range 0.11\u2013114.8 \u00d7 109\/L; IQR 1.9 \u00d7 109\/L, 5.9 \u00d7 109\/L). Immunophenotyping consistently identified as a CD3- CD56+ clone. Notably, genomic profiling via NGS revealed a STAT3 mutation rate of 14.3%. Regarding therapeutic efficacy, frontline immunosuppressive therapy with cyclophosphamide or cyclosporine was associated with favorable clinical responses (best overall response, complete remission rate 66.7% for both). Additionally, sirolimus emerged as a potentially highly effective salvage option, yielding an overall response rate of 85.7% (95%CI 42.1\u201399.6%) and complete remission rate of 57.1%. With an estimated 3-year overall survival rate of 85.6% (95%CI 73.3%, 99.8%), our findings suggest a generally indolent clinical course of NK-LGLL in this Chinese cohort and highlight the potential of mTOR inhibition in refractory cases, warranting further prospective investigation.<\/jats:p>","DOI":"10.3390\/ijms27146227","type":"journal-article","created":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T08:53:58Z","timestamp":1783932838000},"page":"6227","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Manifestations and Genetic Profile of Chinese Patients with NK-Cell Large Granular Lymphocytic Leukemia\u2014A Single-Center Retrospective Analysis"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8049-1166","authenticated-orcid":false,"given":"Zhe","family":"Zhuang","sequence":"first","affiliation":[{"name":"Department of Hematology, Peking Union Medical College Hospital, No. 1 Shuaifu Yuan, Beijing 100032, China"},{"name":"Department of Internal Medicine, Peking Union Medical College Hospital, No. 1 Shuaifu Yuan, Beijing 100032, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiying","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Hematology, Peking Union Medical College Hospital, No. 1 Shuaifu Yuan, Beijing 100032, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Hematology, Peking Union Medical College Hospital, No. 1 Shuaifu Yuan, Beijing 100032, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiao","family":"Di","sequence":"additional","affiliation":[{"name":"Department of Hematology, Peking Union Medical College Hospital, No. 1 Shuaifu Yuan, Beijing 100032, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhangyuting","family":"He","sequence":"additional","affiliation":[{"name":"Department of Hematology, Peking Union Medical College Hospital, No. 1 Shuaifu Yuan, Beijing 100032, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Hematology, Peking Union Medical College Hospital, No. 1 Shuaifu Yuan, Beijing 100032, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daobin","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Hematology, Peking Union Medical College Hospital, No. 1 Shuaifu Yuan, Beijing 100032, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Hematology, Peking Union Medical College Hospital, No. 1 Shuaifu Yuan, Beijing 100032, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,7,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"169","DOI":"10.7326\/0003-4819-102-2-169","article-title":"Leukemia of large granular lymphocytes: Association with clonal chromosomal abnormalities and autoimmune neutropenia, thrombocytopenia, and hemolytic anemia","volume":"102","author":"Loughran","year":"1985","journal-title":"Ann. 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