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CC BY-NC-ND 4.0 · Indian J Med Paediatr Oncol 2022; 43(04): 382-385
DOI: 10.1055/s-0042-1743126
Case Report with Review of Literature

Rare Association of Tuberous sclerosis with Acute Lymphoblastic Leukemia: Case Report with Review of Literature

Abhilasha Sampagar
1   Department of Pediatrics, KAHER's Jawaharlal Nehru Medical College, Belagavi, Karnataka, India
,
Rajkumar Chakrala 
1   Department of Pediatrics, KAHER's Jawaharlal Nehru Medical College, Belagavi, Karnataka, India
,
Mahesh Kamate
1   Department of Pediatrics, KAHER's Jawaharlal Nehru Medical College, Belagavi, Karnataka, India
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Abstract

Acute lymphoblastic leukemia (ALL) is the most common leukemia in children in which 85% of all cases are of B-cell ALL and approximately 15% cases are of T-cell ALL (T-ALL). Recent revolution in next-generation sequencing has uncovered many novel somatic mutations and rearrangements in ALL cells, which have prognostic and therapeutic implications, and it has also led to recognition of germline variants in the same genes with somatic mutations commonly associated with ALL. Apart from increasing the risk of developing ALL, germline variants may influence diagnostic testing, genetic counseling, and response to antileukemic treatment. This emphasizes importance of identification of new germline variants, or association of inherited syndromes with ALL or other malignancies. Down's syndrome, Shwachman's syndrome, Fanconi anemia, Bloom's syndrome, neurofibromatosis, and ataxia telangiectasia are well-recognized conditions associated with ALL. In this communication, we report a rare association of T-ALL with tuberous sclerosis (TS). This is the first reported case, showing association of T cell leukemia and TS with confirmatory genetic work-up.

Keywords

acute lymphoblastic leukemia - neurocutaneous syndromes - tuberous sclerosis

Declaration of Patient Consent

The authors certify that they have obtained all appropriate patient consent forms.




Publication History

Article published online:
28 July 2022

© 2022. Indian Society of Medical and Paediatric Oncology. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

  • 1 Katz AJ, Chia VM, Schoonen WM, Kelsh MA. Acute lymphoblastic leukemia: an assessment of international incidence, survival, and disease burden. Cancer Causes Control 2015; 26 (11) 1627-1642
    CrossrefPubMedGoogle Scholar
  • 2 Pui CH, Nichols KE, Yang JJ. Somatic and germline genomics in paediatric acute lymphoblastic leukaemia. Nat Rev Clin Oncol 2019; 16 (04) 227-240
    CrossrefPubMedGoogle Scholar
  • 3 Tebbi CK. Etiology of acute leukemia: a review. Cancers (Basel) 2021; 13 (09) 2256
    CrossrefPubMedGoogle Scholar
  • 4 Morganti S, Tarantino P, Ferraro E, D’Amico P, Duso BA, Curigliano G. Next Generation Sequencing (NGS): a revolutionary technology in pharmacogenomics and personalized medicine in cancer. Translational Research and Onco-Omics Applications in the Era of Cancer Personal Genomics 2019: 9-30
    Google Scholar
  • 5 Northrup H, Krueger DA, Roberds S, Smith K, Sampson J, Korf B, Kwiatkowski DJ, Mowat D, Nellist M, Povey S, de Vries P. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric neurology 2013; Oct 1 49 (04) 243-54
    CrossrefPubMedGoogle Scholar
  • 6 Korf BR, Bebin EM. Neurocutaneous disorders in children. Pediatr Rev 2017; 38 (03) 119-128
    CrossrefPubMedGoogle Scholar
  • 7 Marjanska A, Jatczak-Gaca A, Wojtkiewicz A, Wysocki M, Styczynski J. Demographical profile and spectrum of multiple malignancies in children and adults with neurocutaneous disorders. Anticancer Res 2018; 38 (09) 5453-5457
    CrossrefPubMedGoogle Scholar
  • 8 Portocarrero LKL, Quental KN, Samorano LP, de Oliveira ZNP, Rivitti-Machado MCDM. Tuberous sclerosis complex: review based on new diagnostic criteria. An Bras Dermatol 2018; 93 (03) 323-331
    CrossrefPubMedGoogle Scholar
  • 9 Ebrahimi-Fakhari D, Mann LL, Poryo M. et al. Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. Orphanet J Rare Dis 2018; 13 (01) 117
    CrossrefPubMedGoogle Scholar
  • 10 European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75 (07) 1305-1315
    CrossrefPubMedGoogle Scholar
  • 11 van Slegtenhorst M, de Hoogt R, Hermans C. et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 277 (5327): 805-808
    CrossrefPubMedGoogle Scholar
  • 12 Lam HC, Nijmeh J, Henske EP. New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex. J Pathol 2017; 241 (02) 219-225
    CrossrefPubMedGoogle Scholar
  • 13 Borkowska J, Schwartz RA, Kotulska K, Jozwiak S. Tuberous sclerosis complex: tumors and tumorigenesis. Int J Dermatol 2011; 50 (01) 13-20
    CrossrefPubMedGoogle Scholar
  • 14 Peron A, Vignoli A, La Briola F. et al. Do patients with tuberous sclerosis complex have an increased risk for malignancies?. Am J Med Genet A 2016; 170 (06) 1538-1544
    CrossrefPubMedGoogle Scholar
  • 15 Rosner M, Hanneder M, Siegel N, Valli A, Fuchs C, Hengstschläger M. The mTOR pathway and its role in human genetic diseases. Mutat Res 2008; 659 (03) 284-292
    CrossrefPubMedGoogle Scholar
  • 16 Kim LC, Cook RS, Chen J. mTORC1 and mTORC2 in cancer and the tumor microenvironment. Oncogene 2017; 36 (16) 2191-2201
    CrossrefPubMedGoogle Scholar
  • 17 Lonetti A, Cappellini A, Bertaina A. et al. Improving nelarabine efficacy in T cell acute lymphoblastic leukemia by targeting aberrant PI3K/AKT/mTOR signaling pathway. J Hematol Oncol 2016; 9 (01) 114
    CrossrefPubMedGoogle Scholar
  • 18 Chiang YJ, Liao WT, Ho KC. et al. CBAP modulates Akt-dependent TSC2 phosphorylation to promote Rheb-mTORC1 signaling and growth of T-cell acute lymphoblastic leukemia. Oncogene 2019; 38 (09) 1432-1447
    CrossrefPubMedGoogle Scholar
  • 19 Xu Z, Wang M, Wang L. et al. Aberrant expression of TSC2 gene in the newly diagnosed acute leukemia. Leuk Res 2009; 33 (07) 891-897
    CrossrefPubMedGoogle Scholar
  • 20 Evangelisti C, Chiarini F, McCubrey JA, Martelli AM. Therapeutic targeting of mTOR in T-cell acute lymphoblastic leukemia: an update. Int J Mol Sci 2018; 19 (07) 1878
    CrossrefPubMedGoogle Scholar