Identification of RCC1-LCK as a novel fusion gene in pediatric erythroid sarcoma.
LCK
erythroid sarcoma
fusion gene
leukemogenesis
myeloid sarcoma
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
09 2022
09 2022
Historique:
revised:
27
05
2022
received:
10
04
2022
accepted:
30
05
2022
pubmed:
18
6
2022
medline:
27
7
2022
entrez:
17
6
2022
Statut:
ppublish
Résumé
Erythroid sarcoma is a very rare subtype of myeloid sarcoma with undetermined biological features. Here, we present an infant with a multifocal erythroid sarcoma, diagnosed because the tumor cells were positive for glycophorin A. After acute myeloid leukemia-oriented chemotherapy and surgical resection followed by cord blood transplantation, he has successfully maintained complete remission without any late effects. Total transcriptome analysis of the tumor identified a novel fusion gene, RCC1-LCK, and high LCK expression levels, suggesting that LCK overexpression was involved in leukemogenesis in this case.
Substances chimiques
Cell Cycle Proteins
0
Guanine Nucleotide Exchange Factors
0
Nuclear Proteins
0
RCC1 protein, human
0
LCK protein, human
EC 2.7.10.2
Lymphocyte Specific Protein Tyrosine Kinase p56(lck)
EC 2.7.10.2
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e29848Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
Dusenbery KE, Howells WB, Arthur DC, et al. Extramedullary leukemia in children with newly diagnosed acute myeloid leukemia: a report from the Children's Cancer Group. J Pediatr Hematol Oncol. 2003;25(10):760-768.
Johnston DL, Alonzo TA, Gerbing RB, Lange BJ, Woods WG. Superior outcome of pediatric acute myeloid leukemia patients with orbital and CNS myeloid sarcoma: a report from the Children's Oncology Group. Pediatr Blood Cancer. 2012;58(4):519-524.
Kawamoto K, Miyoshi H, Yoshida N, Takizawa J, Sone H, Ohshima K. Clinicopathological, cytogenetic, and prognostic analysis of 131 myeloid sarcoma patients. Am J Surg Pathol. 2016;40(11):1473-1483.
Xu LH, Wang Y, Chen ZY, Fang JP. Myeloid sarcoma is associated with poor clinical outcome in pediatric patients with acute myeloid leukemia. J Cancer Res Clin Oncol. 2020;146(4):1011-1020.
Wang HY, Huang LJ, Liu Z, Garcia R, Li S, Galliani CA. Erythroblastic sarcoma presenting as bilateral ovarian masses in an infant with pure erythroid leukemia. Hum Pathol. 2011;42(5):749-758.
Lapadat R, Tower RL 2nd, Tam W, Orazi A, Gheorghe G. Pure erythroid leukemia mimicking Ewing sarcoma/primitive neuroectodermal tumor in an infant. Pediatr Blood Cancer. 2016;63(5):935-937.
Mohanlal RD, Vaughan J, Ramparsad N, Naidu G. Do not forget the glycophorin A: an unusual case of myeloid sarcoma. J Pediatr Hematol Oncol. 2016;38(5):e173-e176.
Manresa P, Tarín F, Niveiro M, et al. A rare case of pure erythroid sarcoma in a pediatric patient: case report and literature review. Children (Basel). 2017;4(12):113.
Liu H, Guinipero TL, Schieffer KM, et al. De novo primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) NFIA/CBFA2T3 translocation. Haematologica. 2020;105(4):e194-e197.
King RL, Siaghani PJ, Wong K, et al. Novel t(1;8)(p31.3;q21.3) NFIA-RUNX1T1 translocation in an infant erythroblastic sarcoma. Am J Clin Pathol. 2021;156(1):129-138.
Tomizawa D, Tanaka S, Hasegawa D, et al. Evaluation of high-dose cytarabine in induction therapy for children with de novo acute myeloid leukemia: a study protocol of the Japan Children's Cancer Group Multi-Center Seamless Phase II-III Randomized Trial (JPLSG AML-12). Jpn J Clin Oncol. 2018;48(6):587-593.
Pastoret C, Houot R, Llamas-Gutierrez F, et al. Detection of clonal heterogeneity and targetable mutations in myeloid sarcoma by high-throughput sequencing. Leuk Lymphoma. 2017;58(4):1008-1012.
Choi M, Jeon YK, Sun CH, et al. RTK-RAS pathway mutation is enriched in myeloid sarcoma. Blood Cancer J. 2018;8(5):43.
Kashofer K, Gornicec M, Lind K, et al. Detection of prognostically relevant mutations and translocations in myeloid sarcoma by next generation sequencing. Leuk Lymphoma. 2018;59(2):501-504.
Chisholm KM, Heerema-McKenney AE, Choi JK, et al. Acute erythroid leukemia is enriched in NUP98 fusions: a report from the Children's Oncology Group. Blood Adv. 2020;4(23):6000-6008.
Iacobucci I, Wen J, Meggendorfer M, et al. Genomic subtyping and therapeutic targeting of acute erythroleukemia. Nat Genet. 2019;51(4):694-704.
Micci F, Thorsen J, Panagopoulos I, et al. High-throughput sequencing identifies an NFIA/CBFA2T3 fusion gene in acute erythroid leukemia with t(1;16)(p31;q24). Leukemia. 2013;27(4):980-982.
Castañeda VL, Parmley RT, Saldivar VA, Cheah MS. Childhood undifferentiated leukemia with early erythroid markers and c-myb duplication. Leukemia. 1991;5(2):142-149.
Köller U, Haas OA, Ludwig WD, et al. Phenotypic and genotypic heterogeneity in infant acute leukemia. II. Acute nonlymphoblastic leukemia. Leukemia. 1989;3(10):708-714.
Panagopoulos I, Micci F, Thorsen J, et al. Fusion of ZMYND8 and RELA genes in acute erythroid leukemia. PLoS One. 2013;8(5):e63663.
Kas K, Voz ML, Röijer E, et al. Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations. Nat Genet. 1997;15(2):170-174.
Ren X, Jiang K, Zhang F. The multifaceted roles of RCC1 in tumorigenesis. Front Mol Biosci. 2020;7:225.
Palacios EH, Weiss A. Function of the Src-family kinases, Lck and Fyn, in T-cell development and activation. Oncogene. 2004;23(48):7990-8000.
Bommhardt U, Schraven B, Simeoni L. Beyond TCR signaling: emerging functions of Lck in cancer and immunotherapy. Int J Mol Sci. 2019;20(14):3500.
Duque-Afonso J, Lin CH, Han K, et al. E2A-PBX1 remodels oncogenic signaling networks in B-cell precursor acute lymphoid leukemia. Cancer Res. 2016;76(23):6937-6949.
Gocho Y, Liu J, Hu J, et al. Network-based systems pharmacology reveals heterogeneity in LCK and BCL2 signaling and therapeutic sensitivity of T-cell acute lymphoblastic leukemia. Nat Cancer. 2021;2(3):284-299.
Rouer E, Dreyfus F, Melle J, Benarous R. Pattern of expression of five alternative transcripts of the lck gene in different hematopoietic malignancies: correlation of the level of LCK messenger RNA I B with the immature phenotype of the malignancy. Cell Growth Differ. 1994;5(6):659-666.
Li L, Cui Y, Shen J, Dobson H, Sun G. Evidence for activated Lck protein tyrosine kinase as the driver of proliferation in acute myeloid leukemia cell, CTV-1. Leuk Res. 2019;78:12-20.