Novel t(2;12)(q31;p13) in a Case of Pediatric T-cell Acute Lymphoblastic Leukemia

Parihar, Mayur; Gupta, Anurag; Remani, K. N.; Bhattacharyya, Arpita; Mishra, Deepak Kumar; Chandy, Mammen

doi:10.1097/mph.0000000000000119

Cited by 3 publications

(2 citation statements)

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“…Patients were treated after consent on a standardised, risk‐stratified, ethics‐approved clinical protocol. Conventional karyotype and FISH analyses were performed on bone marrow aspirates using standard protocols as described . To reduce costs, FISH testing was performed as a two‐step reflex study.…”

Section: Methodsmentioning

confidence: 99%

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A triple‐probe FISH screening strategy for risk‐stratified therapy of acute lymphoblastic leukaemia in low‐resource settings

Parihar

Singh

Islam

et al. 2018

Pediatric Blood & Cancer

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Karyotyping along with a 3-probe fluorescence in situ hybridization (FISH) strategy was used to risk stratify therapy in 303 children with B-cell precursor acute lymphoblastic leukaemia. Of the 166 patients risk stratified, karyotype identified 91 (55%). FISH identified all karyotypes accurately, with the exception of hypodiploidy, and risk stratified an additional 75 patients. The frequency of ETV6-RUNX1 is lower and high hyperdiploidy, higher than reported in the west. An adapted 3-probe FISH strategy identified two patients with ETV6-ABL1 fusion who received imatinib. In limited-resource settings, a 3-probe FISH approach provides a practical approach for risk-stratified therapy in childhood ALL.

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Section: Methodsmentioning

confidence: 99%

“…Conventional karyotype and FISH analyses were performed on bone marrow aspirates using standard protocols as described. [8]. To reduce costs, FISH testing was performed as a two-step reflex study.…”

Section: Methodsmentioning

confidence: 99%

A triple‐probe FISH screening strategy for risk‐stratified therapy of acute lymphoblastic leukaemia in low‐resource settings

Parihar

Singh

Islam

et al. 2018

Pediatric Blood & Cancer

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FxCycle™ Based Ploidy Correlates with Cytogenetic Ploidy in B‐Cell Acute Lymphoblastic Leukemia and Is Able to Detect the Aneuploid Minimal Residual Disease Clone

Gupta

Parihar

Banerjee

et al. 2019

Cytometry Part B Clinical

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BackgroundFlow cytometry (FCM) is a simple, sensitive, and specific technique that can potentially determine DNA ploidy in B‐cell precursor ALL (BCP‐ALL) and is complementary to cytogenetics.MethodsA prospective FCM DNA ploidy analysis using FxCycle™ Violet (assay sensitivity 0.01%) was done in 125 consecutive new cases of BCP‐ALL (90 cases <15 years of age) and compared with corresponding cytogenetic ploidy (karyotyping and/or FISH) data wherever available. This assay was also subsequently evaluated for detection of residual aneuploid clone in few BCP‐ALL cases.ResultsOf the total 125 BCP‐ALL cases evaluated, flow ploidy analysis revealed diploidy (DI 0.96–1.05) in 44.8% (n = 56), low‐hyperdiploidy (DI 1.06 to 1.15) in 13.6% (n = 17), high‐hyperdiploidy (DI 1.16–1.39) in 32.8% (n = 41) and near‐tetraploidy (DI ≥ 1.80) in 2.4% (n = 3) cases. The high risk sub‐group of low‐hypodiploidy (DI 0.70 to 0.88)/near‐triploidy (DI 1.40 to 1.79) constituted 5.6% (n = 7) cases while there was only one case with haploidy (DI 0.58). Overall, high concordance of 90.4% (n = 113) was noted between the combined cytogenetics ploidy and FCM ploidy. Of the total discordant cases (n = 12), the maximum discordance was seen in the low‐hyperdiploid DI subgroup (n = 10), which included seven cases with low DNA index high hyperdiploidy (LDI‐HHD). FCM DNA ploidy assay was able to detect the residual clone in all six MRD positive aneuploid cases evaluated.ConclusionsFxCycle™ based DNA ploidy ascertains strong correlation with cytogenetic profiles and yields complementary information that can be used by the cytogenetics laboratories or otherwise. © 2019 International Clinical Cytometry Society

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Transcriptome sequencing identifies novel EVX fusions involved in transcriptional activation of HOX family genes in pediatric immature T-cell acute lymphoblastic leukemia: two cases reports and a literature review

Zhang,

Cui,

et al. 2023

Int J Hematol

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Novel t(2;12)(q31;p13) in a Case of Pediatric T-cell Acute Lymphoblastic Leukemia

Abstract: We report a novel translocation in T-cell ALL highlighting the involvement of ETV6 and potentially the HOXD gene cluster in a case of T-cell ALL.

Cited by 3 publications

References 2 publications

A triple‐probe FISH screening strategy for risk‐stratified therapy of acute lymphoblastic leukaemia in low‐resource settings

A triple‐probe FISH screening strategy for risk‐stratified therapy of acute lymphoblastic leukaemia in low‐resource settings

FxCycle™ Based Ploidy Correlates with Cytogenetic Ploidy in B‐Cell Acute Lymphoblastic Leukemia and Is Able to Detect the Aneuploid Minimal Residual Disease Clone

Transcriptome sequencing identifies novel EVX fusions involved in transcriptional activation of HOX family genes in pediatric immature T-cell acute lymphoblastic leukemia: two cases reports and a literature review

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