Case Report of a Myeloid Neoplasm with Pathogenic Germline Variant in DDX41 and Constitutional inv(7)(q11.2q22) Along With JAK2 Pathogenic Variant in a 9-Year-old Patient Who Presented With Features of Essential Thrombocythemia.

Gray, AL ; Liu, Y ; et al.

In: Journal of pediatric hematology/oncology, Jg. 45 (2023-07-01), Heft 5, S. e609-e612

academicJournal

Germline pathogenic variants in DDX41 have recently been described in association with myelodysplastic syndrome and acute myeloid leukemia in older populations. However, this pathogenic variant has rarely been described in the pediatric population. This report represents a novel case of newly diagnosed myeloid neoplasm in a 9-year-old patient presenting with essential thrombocythemia-like features and was proven to have JAK2 V617F pathogenic variant, constitutional balanced paracentric inversion on q-arm of chromosome 7, and a germline heterozygous DDX41 pathogenic variant. This is the first reported case of a pediatric patient who presented with the constellation of these clinical features, histologic findings, and genetic alterations.

Competing Interests: The authors declare no conflict of interest.

Titel:	Case Report of a Myeloid Neoplasm with Pathogenic Germline Variant in DDX41 and Constitutional inv(7)(q11.2q22) Along With JAK2 Pathogenic Variant in a 9-Year-old Patient Who Presented With Features of Essential Thrombocythemia.
Autor/in / Beteiligte Person:	Gray, AL ; Liu, Y ; Wappler-Guzzetta, EA ; Cherukuri, D ; Wang, J ; Jain, A
Zeitschrift:	Journal of pediatric hematology/oncology, Jg. 45 (2023-07-01), Heft 5, S. e609-e612
Veröffentlichung:	1998- : Hagerstown, MD : Lippincott Williams & Wilkins ; <i>Original Publication</i>: New York, NY : Raven Press, c1995-, 2023
Medientyp:	academicJournal
ISSN:	1536-3678 (electronic)
DOI:	10.1097/MPH.0000000000002681
Schlagwort:	Child Humans DEAD-box RNA Helicases genetics Germ Cells pathology Germ-Line Mutation Janus Kinase 2 genetics Leukemia, Myeloid, Acute pathology Myeloproliferative Disorders genetics Myeloproliferative Disorders complications Thrombocythemia, Essential complications
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Case Reports; Journal Article Language: English [J Pediatr Hematol Oncol] 2023 Jul 01; Vol. 45 (5), pp. e609-e612. <i>Date of Electronic Publication: </i>2023 May 22. MeSH Terms: Leukemia, Myeloid, Acute* / pathology ; Myeloproliferative Disorders* / genetics ; Myeloproliferative Disorders* / complications ; Thrombocythemia, Essential* / complications ; Child ; Humans ; DEAD-box RNA Helicases / genetics ; Germ Cells / pathology ; Germ-Line Mutation ; Janus Kinase 2 / genetics References: Quesada AE, Routbort MJ, DiNardo CD, et al. DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high-risk disease. Am J Hematol. 2019;94:757–766. ; Strom SP. Current practices and guidelines for clinical next-generation sequencing oncology testing. Cancer Biol Med. 2016;13:3–11. ; Harrison C, Kiladjian JJ, Al-Ali HK, et al. JAK inhibition with ruxolitinib versus best available therapy for myelofibrosis. N Engl J Med. 2012;366:787–798. ; Verstovsek S, Mesa RA, Gotlib J, et al. A double-blind, placebo-controlled trial of ruxolitinib for myelofibrosis. N Engl J Med. 2012;366:799–807. ; Eghtedar A, Verstovsek S, Estrov Z, et al. Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia. Blood. 2012;119:4614–4618. ; Polprasert C, Schulze I, Sekeres MA, et al. Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell. 2015;27:658–670. ; Bannon SA, Routbort MJ, Montalban-Bravo G, et al. Next-generation sequencing of DDX41 in myeloid neoplasms leads to increased detection of germline alterations. Front Oncol. 2021;10. doi:10.3389/fonc.2020.582213. (PMID: 10.3389/fonc.2020.582213) ; Welborn J. Constitutional chromosome aberrations as pathogenetic events in hematologic malignancies. Cancer Genet Cytogenet. 2004;149:137–153. ; Sekiya Y, Okuno Y, Muramatsu H, et al. JAK2, MPL, and CALR mutations in children with essential thrombocythemia. Int J Hematol. 2016;104:266–267. ; Fu R, Zhang L, Yang R. Paediatric essential thrombocythaemia: clinical and molecular features, diagnosis and treatment. Br J Haematol. 2013;163:295–302. ; Tefferi A, Barbui T. Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management. Am J Hematol. 2019;94:133–143. ; Ianotto JC, Curto-Garcia N, Lauermanova M, et al. Characteristics and outcomes of patients with essential thrombocythemia or polycythemia vera diagnosed before 20 years of age: a systematic review. Haematologica. 2019;104:1580–1588. ; Stanley WS, Burkett SS, Segel B, et al. Constitutional inversion of chromosome 7 and hematologic cancers. Cancer Genet Cytogenet. 1997;96:46–49. ; Ahmadzadeh A, Saedi S, Jaseb K, et al. T-cell acute lymphoblastic leukemia with del (7) (q11.2q22) and aberrant expression of myeloid markers. Int J Hematol Oncol Stem Cell Res. 2013;7:40–44. ; Gupta R, Harankhedkar S, Rahman K, et al. Prevalence of chromosome 7 abnormalities in myelodysplastic syndrome and acute myeloid leukemia: a single center study and brief literature review. Indian J Hematol Blood Transfus. 2018;34:602–611. Substance Nomenclature: EC 3.6.1.- (DDX41 protein, human) ; EC 3.6.4.13 (DEAD-box RNA Helicases) ; EC 2.7.10.2 (JAK2 protein, human) ; EC 2.7.10.2 (Janus Kinase 2) Entry Date(s): Date Created: 20230606 Date Completed: 20230628 Latest Revision: 20240304 Update Code: 20240304

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