Rare low-grade pediatric-type astrocytoma with MYB/MYBL1 alteration. A case report and literature review
https://doi.org/10.21682/2311-1267-2026-13-1-80-90
Abstract
Diffuse astrocytoma with MYB or MYBL1 alteration is a newly defined molecular subtype of pediatric-type low-grade diffuse gliomas. This tumor type was first included in the 2021 World Health Organization classification of tumors of the central nervous system. To date, only a limited number of cases with a similar histo-molecular profile have been reported in the literature. The tumor is characterized by a favorable clinical course and prognosis.
This report presents a clinical case of a brain astrocytoma with MYB/MYBL1 alteration in a 2-year-old girl. A distinctive feature of this case is the absence of any specific antitumor treatment – the patient did not undergo chemotherapy or radiotherapy. Only stereotactic biopsy was performed, followed by histological and molecular verification of the diagnosis. Eight years after the initial diagnosis, the disease remains stable, with some reduction in tumor size observed over time.
According to our data, the presented case of MYB/MYBL1-altered astrocytoma is unique within the Russian medical literature.
About the Authors
E. V. KumirovaRussian Federation
Dr. of Sci. (Med.), Professor, Pediatric Oncologist, Deputy Chief Physician for Oncology; Head of Department of Pediatric Palliative Care; Scientific Consultant at the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov
1/9 4th Dobryninskiy Per., Moscow, 119049
1 Ostrovityanova St., Moscow, 117997
23 Kashirskoe Shosse, Moscow, 115522
M. A. Kolcheva
Russian Federation
Neurosurgeon, PhD Student in Neurosurgery based; Department of Neurology and Neurosurgery
1/9 4th Dobryninskiy Per., Moscow, 119049
6 Miklukho-Maklaya St., Moscow, 117198
S. S. Ozerov
Russian Federation
Cand. of Sci. (Med.), Neurosurgeon of Department of Neurosurgery and Neurooncology
1/9 4th Dobryninskiy Per., Moscow, 119049
Zh. Kh. Kumykova
Russian Federation
Cand. of Sci. (Med.), Pediatric Oncologist, Head of Oncology/Hematology Department
32/1 Shogenova St., Nalchik, 360032
R. Kh. Anders
Russian Federation
Medical Student
6 Miklukho-Maklaya St., Moscow, 117198
E. V. Bondarenko
Russian Federation
Medical Student
6 Miklukho-Maklaya St., Moscow, 117198
V. V. Gorev
Russian Federation
Cand. of Sci. (Med.), Neonatologist, Chief Physician
1/9 4th Dobryninskiy Per., Moscow, 119049
References
1. Louis D.N., Perry A., Wesseling P., Brat D.J., Cree I.A., Figarella-Branger D., Hawkins C., Ng H.K., Pfister S.M., Reifenberger G., Soffietti R., von Deimling A., Ellison D.W. The 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol. 2021;23(8):1231–51. doi: 10.1093/neuonc/noab106. PMID: 34185076; PMCID: PMC8328013.
2. Fangusaro J., Jones D.T., Packer R.J., Gutmann D.H., Milde T., Witt O., Mueller S., Fisher M.J., Hansford J.R., Tabori U., Hargrave D., Bandopadhayay P. Pediatric low-grade glioma: state-of-the-art and ongoing challenges. Neuro Oncol. 2024;26(1):25–37. doi: 10.1093/neuonc/noad195. PMID: 37944912; PMCID: PMC10768984.
3. Osborn A.G., Louis D.N., Poussaint T.Y., Linscott L.L., Salzman K.L. The 2021 World Health Organization Classification of Tumors of the Central Nervous System: What Neuroradiologists Need to Know. AJNR Am J Neuroradiol. 2022;43(7):928–37. doi: 10.3174/ajnr.A7462. Epub 2022 Jun 16. PMID: 35710121; PMCID: PMC9262075.
4. Kalelioglu T., Rama B., Cho B.B., Lopes B.M., Patel S.H. Pediatrictype diffuse low-grade glioma with MYB/MYBL1 alteration: report of 2 cases. Neuroradiol J. 2023;36(2):232–5. doi: 10.1177/19714009221126015.
5. Moreira D.C., Qaddoumi I., Spiller S., Bouldin T.W., Davidson A., Saba-Silva N., Sullivan D.V., Tanaka R., Wagner A.S., Wood M., Klimo P., Job G., Devidas M., Li X., Gajjar A., Robinson G.W., Chiang J. Comprehensive analysis of MYB/MYBL1-altered pediatrictype diffuse low-grade glioma. Neuro Oncol. 2024;26(7):1327–34. doi: 10.1093/neuonc/noae048.
6. Chiang J., Harreld J.H., Tinkle C.L., Moreira D.C., Li X., Acharya S., Qaddoumi I., Ellison D.W. A single-center study of the clinicopathologic correlates of gliomas with a MYB or MYBL1 alteration. Acta Neuropathol. 2019;138(6):1091–2. doi: 10.1007/s00401-019-02081-1. Epub 2019 Oct 8. PMID: 31595312; PMCID: PMC7467132.
7. Qaddoumi I., Orisme W., Wen J., Santiago T., Gupta K., Dalton J.D., Tang B., Haupfear K., Punchihewa C., Easton J., Mulder H., Boggs K., Shao Y., Rusch M., Becksfort J., Gupta P., Wang S., Lee R.P., Brat D., Peter Collins V., Dahiya S., George D., Konomos W., Kurian K.M., McFadden K., Serafini L.N., Nickols H., Perry A., Shurtleff S., Gajjar A., Boop F.A., Klimo P.D. Jr, Mardis E.R., Wilson R.K., Baker S.J., Zhang J., Wu G., Downing J.R., Tatevossian R.G., Ellison D.W. Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology. Acta Neuropathol. 2016;131(6):833–45. doi: 10.1007/s00401-016-1539-z. Epub 2016 Jan 25. PMID: 26810070; PMCID: PMC4866893.
8. Ellison D.W., Hawkins C., Jones D.T.W., Onar-Thomas A., Pfister S.M., Reifenberger G., Louis D.N. cIMPACT-NOW update 4: diffuse gliomas characterized by MYB, MYBL1, or FGFR1 alterations or BRAFV600E mutation. Acta Neuropathol. 2019;137(4):683–7. doi: 10.1007/s00401-019-01987-0. Epub 2019 Mar 8. PMID: 30848347.
9. Chung H.‐J., Rajan S., Wu Z., Ferrone C.K., Raffeld M., Lee I., Gagan J., Dampier C., Abdullaev Z., Tyagi M., Cimino P.J., Quezado M., Aldape K. MYB/MYBL1‐altered gliomas frequently harbor truncations and non‐productive fusions in the MYB and MYBL1 genes. Acta Neuropathologica. 2024;148(1):54. doi: 10.1007/s00401-024-02803-0.
10. Wefers A.K., Stichel D., Schrimpf D., Coras R., Pages M., Tauziède-Espariat A., Varlet P., Schwarz D., Söylemezoglu F., Pohl U., Pimentel J., Meyer J., Hewer E., Japp A., Joshi A., Reuss D.E., Reinhardt A., Sievers P., Casalini M.B., Ebrahimi A., Huang K., Koelsche C., Low H.L., Rebelo O., Marnoto D., Becker A.J., Staszewski O., Mittelbronn M., Hasselblatt M., Schittenhelm J., Cheesman E., de Oliveira R.S., Queiroz R.G.P., Valera E.T., Hans V.H., Korshunov A., Olar A., Ligon K.L., Pfister S.M., Jaunmuktane Z., Brandner S., Tatevossian R.G., Ellison D.W., Jacques T.S., Honavar M., Aronica E., Thom M., Sahm F., von Deimling A., Jones D.T.W., Blumcke I., Capper D. Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course. Acta Neuropathol. 2020;139(1):193–209. doi: 10.1007/s00401-019-02078-w. Epub 2019 Sep 28. PMID: 31563982; PMCID: PMC7477753.
11. Robinson G.W., Vinitsky A., Bag A.K., Chiang J., Li Q., Lin T., Hoehn M.E., Edwards A., Storment D., Singh A., Larkin J., Freeman J., Pranica J., Bertrand K., Bagchi A., Baughman T., Hoang T., Shearer T., Moreira D. LGG-53. Results from the phase 1 and phase 1 expansion cohorts of SJ901: a phase 1/2 trial of singleagent mirdametinib (PD-0325901) in children, adolescents, and young adults with low-grade glioma. Neuro Oncol. 2024;26(Suppl 4). doi: 10.1093/neuonc/noae064.443. PMCID: PMC11184079.
Review
For citations:
Kumirova E.V., Kolcheva M.A., Ozerov S.S., Kumykova Zh.Kh., Anders R.Kh., Bondarenko E.V., Gorev V.V. Rare low-grade pediatric-type astrocytoma with MYB/MYBL1 alteration. A case report and literature review. Russian Journal of Pediatric Hematology and Oncology. 2026;13(1):80-90. (In Russ.) https://doi.org/10.21682/2311-1267-2026-13-1-80-90
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