PMID- 32827877 OWN - NLM STAT- MEDLINE DCOM- 20201231 LR - 20201231 IS - 2210-7762 (Print) VI - 246-247 DP - 2020 Aug TI - Integrated genomic analysis using chromosomal microarray, fluorescence in situ hybridization and mate pair analyses: Characterization of a cryptic t(9;22)(p24.1;q11.2)/BCR-JAK2 in myeloid/lymphoid neoplasm with eosinophilia. PG - 44-47 LID - S2210-7762(20)30260-X [pii] LID - 10.1016/j.cancergen.2020.08.004 [doi] AB - The 2016 World Health Organization entity 'Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB or FGFR1, or with PCM1-JAK2' encompasses a group of rare neoplasms that result from the formation of a fusion gene that leads to expression of an aberrant tyrosine kinase. This entity also contains variant JAK2 fusion partners, and detection of this defining event can be facilitated by various cytogenetic and molecular methods. Cryptic rearrangements of 9p24/JAK2 can be particularly challenging to identify. We describe the use of chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH) with a probe for JAK2, and genomic mate pair analysis to describe a complex karyotype with a t(9;22) that produced a functional BCR-JAK2 fusion, leading to the appropriate diagnosis for the patient. This case highlights the importance of using an integrated genomic approach to fully define complex aberrations to assign proper diagnoses. CI - Copyright (c) 2020 Elsevier Inc. All rights reserved. FAU - Snider, Jessica S AU - Snider JS AD - Medical University of South Carolina, Department of Pathology and Laboratory Medicine, 165 Ashley Ave, MSC 908, Charleston, SC 29425, United States. Electronic address: sniderje@musc.edu. FAU - Znoyko, Iya AU - Znoyko I AD - Medical University of South Carolina, Department of Pathology and Laboratory Medicine, 165 Ashley Ave, MSC 908, Charleston, SC 29425, United States. Electronic address: znoykoi@musc.edu. FAU - Lindsey, Kathryn G AU - Lindsey KG AD - Medical University of South Carolina, Department of Pathology and Laboratory Medicine, 165 Ashley Ave, MSC 908, Charleston, SC 29425, United States. Electronic address: lindseyk@musc.edu. FAU - Morse, Jennifer AU - Morse J AD - Medical University of South Carolina, Department of Pathology and Laboratory Medicine, 165 Ashley Ave, MSC 908, Charleston, SC 29425, United States. Electronic address: morsejl@musc.edu. FAU - Baughn, Linda B AU - Baughn LB AD - Mayo Clinic, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, 200 1st St SW, Rochester, MN 55905, United States. Electronic address: baughn.linda@mayo.edu. FAU - Hoppman, Nicole L AU - Hoppman NL AD - Mayo Clinic, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, 200 1st St SW, Rochester, MN 55905, United States. Electronic address: hoppman.nicole@mayo.edu. FAU - Pitel, Beth A AU - Pitel BA AD - Mayo Clinic, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, 200 1st St SW, Rochester, MN 55905, United States. Electronic address: pitel.beth@mayo.edu. FAU - Pearce, Kathryn E AU - Pearce KE AD - Mayo Clinic, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, 200 1st St SW, Rochester, MN 55905, United States. Electronic address: pearce.kathryn@mayo.edu. FAU - Schandl, Cynthia A AU - Schandl CA AD - Medical University of South Carolina, Department of Pathology and Laboratory Medicine, 165 Ashley Ave, MSC 908, Charleston, SC 29425, United States. Electronic address: schandlc@musc.edu. FAU - Wolff, Daynna J AU - Wolff DJ AD - Medical University of South Carolina, Department of Pathology and Laboratory Medicine, 165 Ashley Ave, MSC 908, Charleston, SC 29425, United States. Electronic address: wolffd@musc.edu. LA - eng PT - Case Reports PT - Journal Article DEP - 20200807 PL - United States TA - Cancer Genet JT - Cancer genetics JID - 101539150 RN - EC 2.7.10.2 (JAK2 protein, human) RN - EC 2.7.10.2 (Janus Kinase 2) RN - EC 2.7.11.1 (BCR protein, human) RN - EC 2.7.11.1 (Proto-Oncogene Proteins c-bcr) RN - Myeloproliferative Disorder, Chronic, with Eosinophilia SB - IM MH - Chromosomes, Human, Pair 22/*genetics MH - Chromosomes, Human, Pair 9/*genetics MH - Eosinophilia/genetics/*pathology MH - Genomics/methods MH - Humans MH - In Situ Hybridization, Fluorescence/methods MH - Janus Kinase 2/*genetics MH - Male MH - Microarray Analysis/methods MH - Middle Aged MH - Myeloproliferative Disorders/genetics/*pathology MH - Prognosis MH - Proto-Oncogene Proteins c-bcr/*genetics MH - *Translocation, Genetic OTO - NOTNLM OT - Acute leukemia OT - Chromosomal microarray analysis OT - Fluorescence in situ hybridization OT - Mate pair sequencing COIS- Declaration of Competing Interest None. EDAT- 2020/08/23 06:00 MHDA- 2021/01/01 06:00 CRDT- 2020/08/23 06:00 PHST- 2020/04/10 00:00 [received] PHST- 2020/06/10 00:00 [revised] PHST- 2020/08/03 00:00 [accepted] PHST- 2020/08/23 06:00 [pubmed] PHST- 2021/01/01 06:00 [medline] PHST- 2020/08/23 06:00 [entrez] AID - S2210-7762(20)30260-X [pii] AID - 10.1016/j.cancergen.2020.08.004 [doi] PST - ppublish SO - Cancer Genet. 2020 Aug;246-247:44-47. doi: 10.1016/j.cancergen.2020.08.004. Epub 2020 Aug 7.