Woman with Turner syndrome and her child with acute leukemia (a case report)

Authors

  • N. Kitsera Institute of Hereditary Pathology, National Academy of Medical Sciences of Ukraine, Lviv 79008,
  • O. Dorosh Danylo Halytsky Lviv National Medical University
  • H. Makukh Institute of Hereditary Pathology, National Academy of Medical Sciences of Ukraine, Lviv 79008, Ukraine

DOI:

https://doi.org/10.32471/exp-oncology.2312-8852.vol-42-no-4.15275

Keywords:

acute leukemia., phenotype, reproductive history, Turner syndrome

Abstract

Summary. Turner syndrome (TS) is a chromosomal condition that affects development in females. The case of TS in the mother whose child was diagnosed with acute leukemia at the age of 1.5 years is presented. FANCI gene in child was detected among 94 genes associated­ with hematologic malignancies. Acute lymphoblastic leukemia, common-B ІІ, L1, associated with t(12;21)(p13;q22), TEL/AML1 (ETV6/RUNX1) in a child was detected during a prophylactic examination. During the treatment of the baby, the mother had a second pregnancy, which ended in miscarriage at 8 weeks. Upon cytogenetic examination in the mother TS was revealed — mos45,Х[23]/46, ХХ[7], and the father’s karyotype was without abnormalities (46, ХУ). After chemotherapy, the child is in clinical-hematological remission. It could be suggested that chromosomal abnormalities in mother with TS may cause the chromosomal instability and hematological malignancy in offspring.

References

Siddiqui N, Ali Baig MF, Khan BA. A case report of acute myelogenous leukemia with Turner syndrome. J Pak Med Assoc 2017; 67: 1438–40.

Larizza D, Albanesi M, De Silvestri A, et al. Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up. Eur J Med Genet 2016; 59: 269–73.

Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017; 177: G1–70.

Zelinska N, Shevchenko I, Globa E. Nationwide study of Turner syndrome in Ukrainian children: prevalence, genetic variants and phenotypic features. J Clin Res Pediatr Endocrinol 2018; 10: 256–63.

Paolucci DG, Bamba V. Turner Syndrome: care of the patient: birth to late adolescence. PediatrEndocrinol Rev 2017; 14: 454–61.

Kitsera N, Helner N, Osadchuk Z, et al. Clinical and genetic features of women’s cohort with Turner syndrome from Lviv region (West Ukraine) for 1997-2017. J Genome 2018; 1: 101–5.

Mavridi A, Ntali G, Theodora M, et al. A spontaneous pregnancy in a patient with Turner syndrome with 45,X/47,XXX mosaicism: A case report and review of the literature. J Pediatr Adolesc Gynecol 2018; 31: 651–4.

Jin MW, Xu SM, An Q, Wang P. A review of risk factors for childhood leukemia. Eur Rev Med Pharmacol Sci 2016; 20: 3760–4.

Taylor AMR, Rothblum-Oviatt C, Ellis NA, et al. Chromosome instability syndromes. Nat Rev Dis Primers 2019; 5: 64.

Ramphul K, Mejias SG, Joynauth J. Leukemia in Down syndrome children based on national estimates. J Pediatr Hematol Oncol 2019; 41: 421–2.

Rau RE, Carroll AJ, Heerema NA, et al. Klinefelter syndrome and 47,XYY syndrome in children with B cell acute lymphoblastic leukaemia. Br J Haematol 2017; 179: 843–6.

Chennuri V, Kashyap R, Tamhankar P, Phadke S. Chronic myeloid leukemia in case of Klinefelter syndrome. Indian J Hum Genet 2014; 20: 69–71.

Ji J, Zöller B, Sundquist J, Sundquist K. Risk of solid tumors and hematological malignancy in persons with Turner and Klinefelter syndromes: A national cohort study. Int J Cancer 2016; 139: 754–8.

Alter BP. Fanconi anemia and the development of leukemia. Best Pract Res Clin Haematol 2014; 27: 214–21.

Aljarad S, Alhamid A, Rahmeh AR, et al. Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria. Oxf Med Case Reports 2018; 12: 414–8.

Kaplan JA. Leukemia in children. Pediatr Rev 2019; 40: 319–31.

Rehman A, Abbas N, Saba T, et al. Classification of acute lymphoblastic leukemia using deep learning. Microsc Res Tech 2018; 81: 1310–7.

Saito T, Usui N, Asai O, et al. Toxicity and outcome of intensive chemotherapy for acute lymphoblastic leukemia complicated with Turner’s syndrome. Intern Med 2005; 44: 145–8.

Davidow KA, Walter AW. Medulloblastoma and secondary acute myeloid leukemia in a patient with Turner syndrome. Pediatr Blood Cancer 2019; 66: e27576.

Manola KN, Sambani C, Karakasis D, et al. Leukemias associated with Turner syndrome: report of three cases and review of the literature. Leuk Res 2008; 32: 481–6.

Kitsera N, Helner N, Osadchuk Z, et al. Reproductive anamnesis of women’s cohort with Turner syndrome from Lviv region (West Ukraine). J Genet DNA Res 2018, 2: 110.

Frelich A, Frelich J, Jeż W, Irzyniec T. Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype. Endokrynol Pol 2017; 68: 47–52.

Noordman ID, van der Velden JA, Timmers HJ, et al. Karyotype — phenotype associations in patients with Turner syndrome. Pediatr Endocrinol Rev 2019; 16: 431–40.

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Published

30.05.2023

How to Cite

Kitsera, N., Dorosh, O., & Makukh, H. (2023). Woman with Turner syndrome and her child with acute leukemia (a case report). Experimental Oncology, 42(4), 333–336. https://doi.org/10.32471/exp-oncology.2312-8852.vol-42-no-4.15275