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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

Autoren

  • 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.




Publikationsverlauf

Artikel online veröffentlicht:
28. Juli 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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