Origins of <i>STIL‐TAL1</i> fusion genes in children who later developed paediatric T‐cell acute lymphoblastic leukaemia: An investigation of neonatal blood spots

Gustafsson, Britt; Mattsson, Kristin; Bogdanović, Gordana; Leijonhufvud, Gustaf; Honkaniemi, Emma; Ramme, Kim; Ford, Anthony M.

doi:10.1002/pbc.27310

Cited by 4 publications

(4 citation statements)

References 20 publications

(51 reference statements)

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Section: Discussionmentioning

confidence: 99%

“…[39,40] The STIL-TAL1 fusion gene is present in approximately 11% to 27% of pediatric T-cell ALLs and gives rise to inappropriate expression of TAL1, which may promote T-cell leukemogenesis. [41] In addition, CMA of the peripheral blood revealed another chromosomal aberration with ambiguous clinical significance: loss of 7q34. However, the loss of 7q34 was not detected after chemotherapy remission in this patient.…”

Section: Wbs (Omim 194050) Was First Described By Williams Andmentioning

confidence: 99%

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Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature

Yang,

Ai,

Bai

et al. 2024

Medicine

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Background: Williams-Beuren syndrome (WBS) is a rare genetic disorder caused by hemizygous microdeletion of contiguous genes on chromosome 7q11.23. Although the phenotype features extensive heterogeneity in severity and performance, WBS is not considered to be a predisposing factor for cancer development. Currently, hematologic cancers, mainly Burkitt lymphoma, are rarely reported in patients with WBS. Here in, we report a unique case of T-cell acute lymphoblastic leukemia in a male child with WBS. Methods: This retrospective study analyzed the clinical data of this case receiving chemotherapy were analyzed. This is a retrospective study. Results: The patient, who exhibited a typical WBS phenotype and presented with hemorrhagic spots. Chromosomal genome-wide chip analysis (CMA) revealed abnormalities on chromosomes 7 and 9. The fusion gene STIL-TAL1 and mutations in BCL11B, NOTCH1, and USP7 have also been found and all been associated with the occurrence of T-cell leukemia. The patient responded well to the chemotherapy. Conclusion: To the best of our knowledge, this is the first reported case of WBS in T-cell acute lymphoblastic leukemia. We want to emphasize that the occurrence of leukemia in this patient might be related to the loss of 7q11.23 and microdeletion of 9p21.3 (including 3 TSGs), but the relationship between WBS and malignancy remains unclear. Further studies are required to clarify the relationship between WBS and malignancy.

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Section: Discussionmentioning

confidence: 99%

Section: Wbs (Omim 194050) Was First Described By Williams Andmentioning

confidence: 99%

Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature

Yang,

Ai,

Bai

et al. 2024

Medicine

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“…[4] Similarly, myeloid leukaemia factor 1 (MLF1) gene deletion has been identified as a plausible marker for infantile TLL, [5] whereas deletion of the SCL/TAL1 interrupting locus (STIL)-T-cell acute leukaemia (TAL1) (STIL-TAL1) fusion gene has been seen in paediatric T-ALL. [6] The presence of a phosphatase and tensin homolog (PTEN) gene deletion has previously been discovered at birth in an infant with T-ALL, suggesting an in utero origination of this disease. [5] However, rearrangements involving the MLL gene (also known as KMT2A) at chromosome band 11q23 are the best-known hallmark of infantile leukaemia.…”

Section: Discussionmentioning

confidence: 99%

Infantile T-cell Acute Lymphoblastic Leukemia: a Case Report

Baig

Muhammad

Shaikh

2021

J Cancer Allied Spec

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Introduction: Acute lymphoblastic leukemia (ALL) is the most common malignancy in children, with a male predominance. Pediatric acute lymphoblastic leukemia is usually of B-cell lineage; T-cell leukemia is uncommon and extremely rare under one year of age. Mixed-lineage leukemia gene rearrangement is the best-known hallmark of infantile leukemia and is a poor prognostic indicator. While multi-agent high dose chemotherapy remains the first line of treatment for pediatric T-ALL, there are numerous side effects of these regimens, and most patients undergo relapse. Due to the rarity of the disease, treatment protocols for infantile T-ALL have not been established to date. Clinical description: We present a case of a 7-month-old Pakistani male that presented with fever and cough and was subsequently diagnosed with T cell acute lymphoblastic leukemia. T-ALL was diagnosed on flow cytometry. Due to poor prognosis, the patient was assigned palliative care. Practical implications: Management of infantile leukemia has yet to be studied in-depth. With a lack of clear treatment guidelines, the approach towards these patients remains challenging. Further research and clinical trials in this area of study are paramount to improving clinical outcomes for these young patients.

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“…STIL was first identified in T-cell leukemia through cDNA fusions, which contains 17 exons and encodes 1,288 amino acids (Gustafsson et al 2018). The asymmetrical localization of STIL to the bases of procentrioles is important for proper centriole replication, and heterozygous mutations can cause lengthening of the centrioles and, thus, microcephaly (Tang et al 2011).…”

Section: Scl/tal1-interrupting Locus Protein (Stil/mcph7)mentioning

confidence: 99%

Primary microcephaly with an unstable genome

Peng

et al. 2020

GENOME INSTAB. DIS.

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Autosomal recessive primary microcephaly, also known as MCPH, is a rare genetic condition where infants are born with small heads and brains. The causes of MCPH are often unknown or unclear. To date, 25 genes have been found to be associated with MCPH. Most of these genes serve similar roles in maintaining genome stability, being associated with centrosome and spindle function, chromosome dynamics, cell cycle regulation, cell division, brain development, neurogenesis, and/or the DNA damage response. In this review, we classify MCPH-associated genes based on their known functions, and propose potential novel functions of MCPH genes in DNA replication and/or the DNA replication stress response, and tumorigenesis. This classification provides a novel perspective on the underlying causes of MCPH and a comprehensive reference for future research.

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Origins of STIL‐TAL1 fusion genes in children who later developed paediatric T‐cell acute lymphoblastic leukaemia: An investigation of neonatal blood spots

Cited by 4 publications

References 20 publications

Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature

Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature

Infantile T-cell Acute Lymphoblastic Leukemia: a Case Report

Primary microcephaly with an unstable genome

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