Association of <i>JAK2</i>-V617F Mutations Detected by Solid Tumor Sequencing With Coexistent Myeloproliferative Neoplasms

Riedlinger, Gregory; Hadigol, Mohammad; Khiabanian, Hossein; Ganesan, Shridar

doi:10.1001/jamaoncol.2018.6286

Cited by 10 publications

(7 citation statements)

References 6 publications

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“…Studies have shown that clonal mutations in the hematopoietic compartment may be detected on tumor tissue testing. 4,5 The results suggest that ctDNA analysis in this patient identified not only clonal DNA from two separate solid tumors, but also an additional third clonal mutation in the hematopoietic compartment, as has been recently described. 6 The patient was evaluated at Rutgers Cancer Institute of New Jersey and provided informed consent to participate in a prospective study trial for tumor genomic profiling (ClinicalTrials.gov identifier: NCT02688517).…”

Section: Genomic Analysissupporting

confidence: 77%

Detection of Three Distinct Clonal Populations Using Circulating Cell-Free DNA: A Cautionary Note on the Use of Liquid Biopsy

Riedlinger

Jalloul

Poplin

et al. 2019

JCO Precision Oncology

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Section: Genomic Analysissupporting

confidence: 77%

Detection of Three Distinct Clonal Populations Using Circulating Cell-Free DNA: A Cautionary Note on the Use of Liquid Biopsy

Riedlinger

Jalloul

Poplin

et al. 2019

JCO Precision Oncology

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“…Two cases within our series (cases 1 and 3, both 80-y-old males) demonstrated TET2 and DNMT3A variants with low allele frequency, suggestive of background clonal hematopoiesis of indeterminate potential (CHIP). CHIP is an age-related phenomenon in which somatic mutations within hematopoietic stem cells lead to clonal expansion and can be detected upon tumor sequencing due to infiltrating leukocytes 45,46. The JAK2 fusions identified in our series are unlikely to represent CHIP as fusions have not previously been described as CHIP-related events and 2 of the patients harboring JAK2 fusions within our cohort were under the age of 35 with no concurrent somatic single nucleotide variants by NGS analysis 45.…”

Section: Discussionmentioning

confidence: 82%

“…CHIP is an age-related phenomenon in which somatic mutations within hematopoietic stem cells lead to clonal expansion and can be detected upon tumor sequencing due to infiltrating leukocytes. 45,46 The JAK2 fusions identified in our series are unlikely to represent CHIP as fusions have not previously been described as CHIP-related events and 2 of the patients harboring JAK2 fusions within our cohort were under the age of 35 with no concurrent somatic single nucleotide variants by NGS analysis. 45 In addition, in a previously described JAK2-rearranged CD30 + PAX5 − large cell lymphoma it was demonstrated by fluorescence ISH that the fusion event occurred in lymphoid tumor cells rather than in background myeloid cells.…”

Section: Discussionmentioning

confidence: 86%

JAK2 Rearrangements Are a Recurrent Alteration in CD30+ Systemic T-Cell Lymphomas With Anaplastic Morphology

Fitzpatrick

Massoth

Marcus³

et al. 2021

American Journal of Surgical Pathology

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Peripheral T-cell lymphoma (PTCL) comprises a heterogenous group of rare mature T-cell neoplasms. While some PTCL subtypes are well-characterized by histology, immunophenotype, and recurrent molecular alterations, others remain incompletely defined. In particular, the distinction between CD30+ PTCL, not otherwise specified and anaplastic lymphoma kinase (ALK)-negative anaplastic large cell lymphoma can be subject to disagreement. We describe a series of 6 JAK2 rearrangements occurring in a cohort of 97 CD30+ ALK− PTCL (6%), assembled after identifying an index case of a novel PABPC1-JAK2 fusion in a case of ALK− anaplastic large cell lymphoma with unusual classic Hodgkin lymphoma (CHL)-like features. Fusions were identified using a comprehensive next-generation sequencing based assay performed between 2013 and 2020. Five of 6 cases (83%) showed JAK2 rearrangements with 4 novel partners: TFG, PABPC1, ILF3, and MAP7, and 1 case demonstrated a previously described PCM1-JAK2 fusion. By morphology, all cases showed anaplastic large cells and multinucleated Reed-Sternberg–like cells within a polymorphous inflammatory background with frequent eosinophilia reminiscent of CHL. By immunohistochemistry, atypical large cells expressed CD30 with coexpression of at least 1 T-cell marker, aberrant loss of at least 1 T-cell marker and, in 4 of 5 cases stained (80%), unusual CD15 coexpression. These findings suggest that a subset of CD30+ ALK− systemic PTCL with anaplastic morphology carry JAK2 rearrangements, some of which appear to show CHL-like morphologic features. The presence of JAK2 rearrangements in cases of CD30+ PTCL augments current classification and may provide a therapeutic target via JAK2 inhibition.

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“…Để có thể xác định kiểu gen (genotyping) của đa hình gen JAK2 V617F, nhiều nghiên cứu trên thế giới đã sử dụng các phương pháp khác nhau như PCR-RFLP (Nikolova et al, 2019), giải trình tự (Riedlinger et al, 2019), PCR-ARMS (Jones et al, 2005)…”

Section: Thảo Luậnunclassified

Evaluating several methods of JAK2 V617F mutation-genotyping to predict the risk of getting polycythemia vera and other myeloproliferative neoplasm diseases

Ngoc

Hau²,

Pham³

et al. 2021

Vietnam J. Biotechnol.

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Polycythemia vera, essential thrombocythemia and primary myelofibrosis are members of the Philadelphia negative chronic subgroup of Myeloproliferative neoplasm. Published studies showed that the mutation JAK2 V617F is mostly responsible for the diseases; therefore, an accurate, low-cost and rapid molecular method to identify this mutation is important in screening and early diagnostic of these diseases. Different methods for genotyping of JAK2 V617F have been proposed. In this study, we evaluated the quality and cost-effectiveness of three genotyping methods, i.e., PCR-ARMS, PCR-RFLP, Sanger sequencing, to determine the appropriate genotyping for JAK2 V617F and predicted in silico the effect of this mutation on the structure and function of Janus kinase 2 protein. Results showed that the Sanger sequencing and PCR-RFLP genotyping methods were more accurate than PCR-ARMS. PCR-RFLP was also more rapid and economical than the other methods. In silico studies also demonstrated that the JAK2 V617F mutation had a large effect on the activity of corresponding protein. These results provided the initial data for further studies on genetic screening and prediction of myeloproliferative neoplasm and other related diseases in the Vietnamese population.

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Association of JAK2-V617F Mutations Detected by Solid Tumor Sequencing With Coexistent Myeloproliferative Neoplasms

Cited by 10 publications

References 6 publications

Detection of Three Distinct Clonal Populations Using Circulating Cell-Free DNA: A Cautionary Note on the Use of Liquid Biopsy

Detection of Three Distinct Clonal Populations Using Circulating Cell-Free DNA: A Cautionary Note on the Use of Liquid Biopsy

JAK2 Rearrangements Are a Recurrent Alteration in CD30+ Systemic T-Cell Lymphomas With Anaplastic Morphology

Evaluating several methods of JAK2 V617F mutation-genotyping to predict the risk of getting polycythemia vera and other myeloproliferative neoplasm diseases

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