Single signal of the Williams syndrome chromosome region 1 gene in hyperploidic bone marrow cells of acute lymphoblastic leukemia in a Williams syndrome patient

Culic, MA Vida; Culic, MA Srdjana; Armanda, Višnja; Rešić, Biserka; Lasan, Ružica; Peterlin, Borut

doi:10.1002/mpo.1312

Cited by 11 publications

(3 citation statements)

References 9 publications

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“…This is the second reported case of a lymphoma in a WS patient and the first in a child, whereas there have been three more reports of malignancy associated with WS (55)(56)(57)(58).…”

Section: Discussionmentioning

confidence: 80%

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Amenta¹,

Sofocleous²,

Kοlialexi³

et al. 2005

Pediatr Res

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“…This is the second reported case of a lymphoma in a WS patient and the first in a child, whereas there have been three more reports of malignancy associated with WS (55)(56)(57)(58).…”

Section: Discussionmentioning

confidence: 80%

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Amenta¹,

Sofocleous²,

Kοlialexi³

et al. 2005

Pediatr Res

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“…In addition to hematological malignancies, two cases of astrocytomas, one case of mucinous cystadenoma of ovary, one case of Wilms tumor, and one case of follicular thyroid carcinoma have been reported in childhood [Table 1]. [1,2,[4][5][6]8,9] Culic et al [8] reported a 14-year-old boy with WS and hyperploidic ALL; in this report, the immunological origin of the patient was not given; our presented case is the youngest children with mature B cell leukemia lineage.…”

Section: Discussionmentioning

confidence: 76%

Burkitt Leukemia in a 5-Year-Old Girl with Williams–Beuren Syndrome: Review of the Literature

Patıroğlu

Özcan

Karakükçü

et al. 2019

Indian Journal of Medical and Paediatric Oncology

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“…Although WBS does not predispose carriers to cancer, there have been single reports of non-Hodgkin lymphoma and 1 case report of acute lymphoblastic leukemia (ALL) in children with WBS. [12][13][14][15][16][17][18][19][20] Most ALL cases have some degree of karyotypic instability and congenital chromosomal abnormalities that persist in leukemic cells.…”

Section: Xxl and Gqh Contributed Equally To This Workmentioning

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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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.

show abstract

Single signal of the Williams syndrome chromosome region 1 gene in hyperploidic bone marrow cells of acute lymphoblastic leukemia in a Williams syndrome patient

Cited by 11 publications

References 9 publications

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Burkitt Leukemia in a 5-Year-Old Girl with Williams–Beuren Syndrome: Review of the Literature

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

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