PMID- 29633732 OWN - NLM STAT- MEDLINE DCOM- 20191111 LR - 20200306 IS - 2531-6745 (Electronic) IS - 0392-4203 (Print) IS - 0392-4203 (Linking) VI - 89 IP - 3-S DP - 2018 Apr 3 TI - Chronic Myeloid Leukemia with cryptic Philadelphia translocation and extramedullary B-lymphoid blast phase as an initial presentation. PG - 38-44 LID - 10.23750/abm.v89i3-S.7219 [doi] AB - Chronic Myeloid Leukemia (CML) is a clonal myeloproliferative neoplasm (MPN) characterized by the presence of a reciprocal translocation between the long arms of chromosomes 9 and 22, t(9;22)(q34:q11), resulting in fusion of the break point cluster region (BCR) with the ABL gene, which forms an oncogene, the transcript of which is an oncoprotein with a tyrosine kinase function. In the great majority of CML; BCR/ABL1 is cytogenetically visualized as t(9;22); giving rise to the Ph chromosome, harboring the chimeric gene. Cryptic or masked translocations occur in 2-10% patients with no evidence for the BCR/ABL rearrangement by conventional cytogenetics but are positive by Fluorescence in Situ Hybridization (FISH) and/or reverse transcriptase polymerase chain reaction (RT-PCR). These patients are described as Philadelphia negative (Ph negative) BCR/ABL1- positive CML with the chimeric gene present on the derivative chromosome 22, as in most CML cases, or alternatively on the derivative 9 in rare occasions. In the majority of cases, CML is diagnosed in the chronic phase; it is less frequently diagnosed in accelerated crises, and occasionally, its initial presentation is as acute leukemia. The prevalence of extramedullary blast phase (BP) has been reported to be 7-17% in patients with BP. Surprisingly, no extra-medullary blast crises of B- lymphoid lineage have been reported before among cases of CML as the initial presentation. We report an adult male diagnosed as CML- chronic phase when he was shortly presented with treatment-naive extramedullary B-lymphoid blast crises involving multiple lymph nodes, with no features of acceleration or blast crises in the peripheral blood (PB) and bone marrow (BM). In addition the patient had variant/cryptic Philadelphia translocation. This is the first report of CML, on the best of our knowledge, with extramedullary B-lymphoid blast phase, as initial presentation, that showed a cryptic Ph translocation. FAU - Soliman, Dina S AU - Soliman DS AD - Department of Laboratory Medicine and Pathology, National Center for Cancer Care and Research, Hamad Medical Corporation, Doha,Qatar. yassinmoha@gmail.com. FAU - Amer, Aliaa M AU - Amer AM AD - Department of Laboratory Medicine and Pathology, National Center for Cancer Care and Research, Hamad Medical Corporation, Doha,Qatar. yassinmoha@gmail.com. FAU - Mudawi, Deena AU - Mudawi D AD - Department of Hematology and Medical Oncology, National Center for Cancer Care and Research, Hamad Medical Corporation, Doha, Qatar. yassinmoha@gmail.com. FAU - Al-Sabbagh, Zafar AU - Al-Sabbagh Z AD - Department of Laboratory Medicine and Pathology, National Center for Cancer Care and Research, Hamad Medical Corporation, Doha,Qatar. yassinmoha@gmail.com. FAU - Alkuwari, Einas AU - Alkuwari E AD - Department of Laboratory Medicine and Pathology, National Center for Cancer Care and Research, Hamad Medical Corporation, Doha,Qatar. yassinmoha@gmail.com. FAU - Al-Sabbagh, Ahmad AU - Al-Sabbagh A AD - Department of Laboratory Medicine and Pathology, National Center for Cancer Care and Research, Hamad Medical Corporation, Doha,Qatar. yassinmoha@gmail.com. FAU - Ibrahim, Feryal AU - Ibrahim F AD - Department of Laboratory Medicine and Pathology, National Center for Cancer Care and Research, Hamad Medical Corporation, Doha,Qatar. yassinmoha@gmail.com. FAU - Yassin, Mohamed A AU - Yassin MA AD - Department of Hematology and Medical Oncology, National Center for Cancer Care and Research, Hamad Medical Corporation, Doha, Qatar. yassinmoha@gmail.com. LA - eng PT - Case Reports PT - Journal Article DEP - 20180403 PL - Italy TA - Acta Biomed JT - Acta bio-medica : Atenei Parmensis JID - 101295064 RN - 0 (Biomarkers, Tumor) RN - 0 (Protein Kinase Inhibitors) RN - 5J49Q6B70F (Vincristine) RN - 7S5I7G3JQL (Dexamethasone) RN - 80168379AG (Doxorubicin) RN - 8N3DW7272P (Cyclophosphamide) RN - RBZ1571X5H (Dasatinib) RN - CVAD protocol SB - IM MH - Antineoplastic Combined Chemotherapy Protocols/administration & dosage/therapeutic use MH - B-Lymphocytes/*pathology MH - Biomarkers, Tumor MH - Blast Crisis/*genetics/pathology MH - Cyclophosphamide/administration & dosage MH - Dasatinib/administration & dosage MH - Dexamethasone/administration & dosage MH - Doxorubicin/administration & dosage MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis/drug therapy/*genetics/pathology MH - Lymph Nodes/pathology MH - Male MH - Middle Aged MH - *Philadelphia Chromosome MH - Protein Kinase Inhibitors/administration & dosage MH - Vincristine/administration & dosage PMC - PMC6179102 EDAT- 2018/04/11 06:00 MHDA- 2019/11/12 06:00 PMCR- 2018/01/01 CRDT- 2018/04/11 06:00 PHST- 2018/04/03 00:00 [received] PHST- 2018/04/11 06:00 [entrez] PHST- 2018/04/11 06:00 [pubmed] PHST- 2019/11/12 06:00 [medline] PHST- 2018/01/01 00:00 [pmc-release] AID - ACTA-89-38 [pii] AID - 10.23750/abm.v89i3-S.7219 [doi] PST - epublish SO - Acta Biomed. 2018 Apr 3;89(3-S):38-44. doi: 10.23750/abm.v89i3-S.7219.