Clinical features and prognosis of juvenile myelomonocytic leukemia: an analysis of 63 cases

YANG Wen-Yu; LIU Li-Peng; LIU Fang; QI Ben-Quan; CHANG Li-Xian; ZHANG Li; CHEN Xiao-Juan; ZOU Yao; CHEN Yu-Mei; GUO Ye; ZHU Xiao-Fan

doi:10.7499/j.issn.1008-8830.2209129

PDF(608 KB)

Chinese Journal of Contemporary Pediatrics ›› 2023, Vol. 25 ›› Issue (3) : 265-271. DOI: 10.7499/j.issn.1008-8830.2209129

CLINICAL RESEARCH

Clinical features and prognosis of juvenile myelomonocytic leukemia: an analysis of 63 cases

YANG Wen-Yu, LIU Li-Peng, LIU Fang, QI Ben-Quan, CHANG Li-Xian, ZHANG Li, CHEN Xiao-Juan, ZOU Yao, CHEN Yu-Mei, GUO Ye, ZHU Xiao-Fan

Author information +

History +

Abstract

Objective To investigate the clinical features of juvenile myelomonocytic leukemia (JMML) and their association with prognosis. Methods Clinical and prognosis data were collected from the children with JMML who were admitted from January 2008 to December 2016, and the influencing factors for prognosis were analyzed. Results A total of 63 children with JMML were included, with a median age of onset of 25 months and a male/female ratio of 3.2∶1. JMML genetic testing was performed for 54 children, and PTPN11 mutation was the most common mutation and was observed in 23 children (43%), among whom 19 had PTPN11 mutation alone and 4 had compound PTPN11 mutation, followed by NRAS mutation observed in 14 children (26%), among whom 12 had NRAS mutation alone and 2 had compound NRAS mutation. The 5-year overall survival (OS) rate was only 22%±10% in these children with JMML. Of the 63 children, 13 (21%) underwent hematopoietic stem cell transplantation (HSCT). The HSCT group had a significantly higher 5-year OS rate than the non-HSCT group (46%±14% vs 29%±7%, P<0.05). There was no significant difference in the 5-year OS rate between the children without PTPN11 gene mutation and those with PTPN11 gene mutation (30%±14% vs 27%±10%, P>0.05). The Cox proportional-hazards regression model analysis showed that platelet count <40×10⁹/L at diagnosis was an influencing factor for 5-year OS rate in children with JMML (P<0.05). Conclusions The PTPN11 gene was the most common mutant gene in JMML. Platelet count at diagnosis is associated with the prognosis in children with JMML. HSCT can improve the prognosis of children with JMML.

Key words

Juvenile myelomonocytic leukemia / Gene mutation / Clinical feature / Prognosis / Child

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

YANG Wen-Yu, LIU Li-Peng, LIU Fang, QI Ben-Quan, CHANG Li-Xian, ZHANG Li, CHEN Xiao-Juan, ZOU Yao, CHEN Yu-Mei, GUO Ye, ZHU Xiao-Fan. Clinical features and prognosis of juvenile myelomonocytic leukemia: an analysis of 63 cases[J]. Chinese Journal of Contemporary Pediatrics. 2023, 25(3): 265-271 https://doi.org/10.7499/j.issn.1008-8830.2209129

References

1 Chang TY, Dvorak CC, Loh ML. Bedside to bench in juvenile myelomonocytic leukemia: insights into leukemogenesis from a rare pediatric leukemia[J]. Blood, 2014, 124(16): 2487-2497. PMID: 25163700. DOI: 10.1182/blood-2014-03-300319.
2 Locatelli F, Algeri M, Merli P, et al. Novel approaches to diagnosis and treatment of juvenile myelomonocytic leukemia[J]. Expert Rev Hematol, 2018, 11(2): 129-143. PMID: 29279013. DOI: 10.1080/17474086.2018.1421937.
3 Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia[J]. Blood, 2016, 127(20): 2391-2405. PMID: 27069254. DOI: 10.1182/blood-2016-03-643544.
4 Niemeyer CM, Flotho C. Juvenile myelomonocytic leukemia: who's the driver at the wheel?[J]. Blood, 2019, 133(10): 1060-1070. PMID: 30670449. DOI: 10.1182/blood-2018-11-844688.
5 Lasho T, Patnaik MM. Juvenile myelomonocytic leukemia—a bona fide RASopathy syndrome[J]. Best Pract Res Clin Haematol, 2020, 33(2): 101171. PMID: 32460983. DOI: 10.1016/j.beha.2020.101171.
6 Gupta AK, Meena JP, Chopra A, et al. Juvenile myelomonocytic leukemia—a comprehensive review and recent advances in management[J]. Am J Blood Res, 2021, 11(1): 1-21. PMID: 33796386. PMCID: PMC8010610.
7 Niemeyer CM. JMML genomics and decisions[J]. Hematology Am Soc Hematol Educ Program, 2018, 2018(1): 307-312. PMID: 30504325. PMCID: PMC6245977. DOI: 10.1182/asheducation-2018.1.307.
8 Locatelli F, Niemeyer CM. How I treat juvenile myelomonocytic leukemia[J]. Blood, 2015, 125(7): 1083-1090. PMID: 25564399. DOI: 10.1182/blood-2014-08-550483.
9 Meynier S, Rieux-Laucat F. After 95 years, it's time to eRASe JMML[J]. Blood Rev, 2020, 43: 100652. PMID: 31980238. DOI: 10.1016/j.blre.2020.100652.
10 Passmore SJ, Hann IM, Stiller CA, et al. Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system[J]. Blood, 1995, 85(7): 1742-1750. PMID: 7703482.
11 Murakami N, Okuno Y, Yoshida K, et al. Integrated molecular profiling of juvenile myelomonocytic leukemia[J]. Blood, 2018, 131(14): 1576-1586. PMID: 29437595. DOI: 10.1182/blood-2017-07-798157.
12 Fi?ana C, Gómez-Molina N, Alonso-Moreno S, et al. Genomic and epigenomic landscape of juvenile myelomonocytic leukemia[J]. Cancers (Basel), 2022, 14(5): 1335. PMID: 35267643. PMCID: PMC8909150. DOI: 10.3390/cancers14051335.
13 Dvorak CC, Satwani P, Stieglitz E, et al. Disease burden and conditioning regimens in ASCT1221, a randomized phase II trial in children with juvenile myelomonocytic leukemia: a Children's Oncology Group study[J]. Pediatr Blood Cancer, 2018, 65(7): e27034. PMID: 29528181. PMCID: PMC5980696. DOI: 10.1002/pbc.27034.
14 Nathany S, Chatterjee G, Ghai S, et al. Mutational landscape of juvenile myelomonocytic leukemia (JMML)—a real-world context[J]. Int J Lab Hematol, 2021, 43(6): 1531-1538. PMID: 34387930. DOI: 10.1111/ijlh.13680.
15 Mayerhofer C, Niemeyer CM, Flotho C. Current treatment of juvenile myelomonocytic leukemia[J]. J Clin Med, 2021, 10(14): 3084. PMID: 34300250. PMCID: PMC8305558. DOI: 10.3390/jcm10143084.
16 Marcu A, Colita A, Radu LE, et al. Single-center experience with epigenetic treatment for juvenile myelomonocytic leukemia[J]. Front Oncol, 2020, 10: 484. PMID: 32328464. PMCID: PMC7161089. DOI: 10.3389/fonc.2020.00484.
17 Lin YC, Luo CJ, Miao Y, et al. Human leukocyte antigen disparities reduce relapse after hematopoietic stem cell transplantation in children with juvenile myelomonocytic leukemia: a single-center retrospective study from China[J]. Pediatr Transplant, 2021, 25(2): e13825. PMID: 33131184. DOI: 10.1111/petr.13825.
18 Loh ML. Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia[J]. Br J Haematol, 2011, 152(6): 677-687. PMID: 21623760. DOI: 10.1111/j.1365-2141.2010.08525.x.
19 Yoshida N, Doisaki S, Kojima S. Current management of juvenile myelomonocytic leukemia and the impact of RAS mutations[J]. Paediatr Drugs, 2012, 14(3): 157-163. PMID: 22480363. DOI: 10.2165/11631360-000000000-00000.