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Atypical chronic myeloid leukemia

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https://www.readbyqxmd.com/read/29123930/chronic-myeloid-leukemia-with-an-e6a2-bcr-abl1-fusion-transcript-cooperating-mutations-at-blast-crisis-and-molecular-monitoring
#1
Mireille Crampe, Karl Haslam, Emma Groarke, Eileen Kelleher, Derville O'Shea, Eibhlin Conneally, Stephen E Langabeer
A minority of chronic myeloid leukemia patients (CML) express a variety of atypical BCR-ABL1 fusion variants and, of these, the e6a2 BCR-ABL1 fusion is generally associated with an aggressive disease course. Progression of CML to blast crisis is associated with acquisition of additional somatic mutations yet these events have not been elucidated in patients with the e6a2 BCR-ABL1 genotype. Moreover, molecular monitoring is only sporadically performed in CML patients with atypical BCR-ABL1 fusion transcripts due to lack of consensus approaches or standardization...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29107664/eruption-of-lymphocyte-recovery-with-atypical-lymphocytes-mimicking-a-primary-cutaneous-t-cell-lymphoma-a-series-of-12-patients
#2
Charlotte Hurabielle, Emilie Sbidian, Helmut Beltraminelli, Brigitte Bouchindhomme, Catherine Chassagne-Clément, Brigitte Balme, Céline Bossard, Marie-Hélène Delfau-Larue, Pierre Wolkenstein, Olivier Chosidow, Catherine Cordonnier, Andrea Toma, Cécile Pautas, Nicolas Ortonne
Eruption of lymphocyte recovery (ELR) may occur during bone marrow aplasia after chemotherapies. We reviewed the clinical and pathologic features of 12 patients (male/female: 7/5, median age: 61years) with an atypical ELR histologically mimicking a primary cutaneous T-cell lymphoma (CTCL) such as Sézary Syndrome or CD30+ T-cell lymphoproliferative disorder (LPD). All the patients displayed an erythematous maculopapular eruption on the trunk and the limbs, associated with fever. All but one had received a polychemotherapy for an acute myeloid leukemia (n=10) or an urothelial carcinoma (n=1) before the occurrence of the skin eruption...
October 28, 2017: Human Pathology
https://www.readbyqxmd.com/read/29091516/bosutinib-versus-imatinib-for-newly-diagnosed-chronic-myeloid-leukemia-results-from-the-randomized-bfore-trial
#3
Jorge E Cortes, Carlo Gambacorti-Passerini, Michael W Deininger, Michael J Mauro, Charles Chuah, Dong-Wook Kim, Irina Dyagil, Nataliia Glushko, Dragana Milojkovic, Philipp le Coutre, Valentin Garcia-Gutierrez, Laurence Reilly, Allison Jeynes-Ellis, Eric Leip, Nathalie Bardy-Bouxin, Andreas Hochhaus, Tim H Brümmendorf
Purpose Bosutinib is a potent dual SRC/ABL kinase inhibitor approved for adults with Philadelphia chromosome-positive chronic myeloid leukemia (CML) resistant and /or intolerant to prior therapy. We assessed the efficacy and safety of bosutinib versus imatinib for first-line treatment of chronic-phase CML. Methods In this ongoing, multinational, phase III study, 536 patients with newly diagnosed chronic-phase CML were randomly assigned 1:1 to receive 400 mg of bosutinib once daily (n = 268) or imatinib (n = 268)...
November 1, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29075489/intravascular-large-b-cell-lymphoma-associated-with-myelofibrosis-a-case-report
#4
Jong Gwon Choi, Hwan Hwi Cho, Sang Rok Kang, Se Min Jang, Eun Hyung Yoo, Hyun Jung Cho, Sun Moon Kim, Do Yeun Cho
Myelofibrosis (MF) is often accompanied by chronic myeloid leukemia, hairy cell leukemia, or certain primary myeloproliferative neoplasms, but is rarely associated with lymphoid neoplasms. We herein describe a case of intravascular large B-cell lymphoma (IVLBCL) with MF. IVLBCL is a rare, aggressive type of extranodal B-cell lymphoma, defined by proliferation of lymphomatous cells within small-to medium-sized vessels. A 60-year-old woman was admitted to the hospital with anemia, thrombocytopenia and fever. Bone marrow biopsy findings included trilineage hematopoiesis, increased numbers of immature cells, markedly abnormal and enlarged megakaryocytes, and diffuse fibrosis in multiple focal areas throughout the entire bone marrow space...
November 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29033820/pachyderma-in-primary-cutaneous-nk-and-t-cell-lymphoma-and-leukemia-cutis
#5
Eve Lebas, Cesar Chian, Nazli Nikkels-Tassoudji, Jorge E Arrese, Arjen F Nikkels
BACKGROUND: Pachyderma is defined as severely thickened skin with deep folds and is occasionally observed with primary cutaneous NK and T-cell lymphoma (pCNKTCL), primary cutaneous B-cell lymphoma (pCBCL), and leukemia cutis (LC). AIM: To describe the clinical, histological, and therapeutic particularities of a series of pCNKTCL, pCBCL, and LC patients with pachyderma. RESULTS: In a series of pCNKTCL (n = 70), pCBCL (n = 12), and LC (n = 2) patients followed up during 9 years, 6 cases of pachyderma were observed...
September 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/29033451/dasatinib-and-azacitidine-followed-by-haploidentical-stem-cell-transplant-for-chronic-myeloid-leukemia-with-evolving-myelodysplasia-a-case-report-and-review-of-treatment-options
#6
Fabian Lang, Lydia Wunderle, Heike Pfeifer, Susanne Schnittger, Gesine Bug, Oliver G Ottmann
BACKGROUND CML presenting with a variant Philadelphia translocation, atypical BCR-ABL transcript, additional chromosomal aberrations, and evolving MDS is uncommon and therapeutically challenging. The prognostic significance of these genetic findings is uncertain, even as singular aberrations, with nearly no data on management and outcome when they coexist. MDS evolving during the course of CML may be either treatment-associated or an independently coexisting disease, and is generally considered to have an inferior prognosis...
October 16, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29025591/identification-of-a-novel-csf3r-sptan1-fusion-gene-in-an-atypical-chronic-myeloid-leukemia-patient-with-t-1-9-p34-q34-by-rna-seq
#7
Guangying Sheng, Jian Zhang, Zhao Zeng, Jinlan Pan, Qinrong Wang, Lijun Wen, Yang Xu, Depei Wu, Suning Chen
Membrane-proximal and truncated mutations of colony-stimulating factor 3 receptor (CSF3R) are frequently found in chronic neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (aCML). However, rearrangement involving CSF3R in hematological neoplasms has not been reported. Here, we report a case of a 21-year-old female diagnosed as aCML with t(1;9)(p34;q34) who presented a CSF3R rearrangement. First, RNA sequencing identified a novel fusion transcript involving exon 17 of CSF3R and exon 50 of non-erythrocytic-1-spectrin-alpha (SPTAN1)...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29025582/a-novel-trip11-flt3-fusion-in-a-patient-with-a-myeloid-lymphoid-neoplasm-with-eosinophilia
#8
Alfred Chung, Yanli Hou, Robert S Ohgami, Ann Von Gehr, Dianna G Fisk, Krishna M Roskin, Xu Li, Linda Gojenola, Charles D Bangs, Daniel A Arber, Andrew Z Fire, Athena M Cherry, James L Zehnder, Jason Gotlib, Jason D Merker
FLT3 fusions are associated with myeloid and lymphoid neoplasms with eosinophilia. We describe a patient presenting with clinicopathologic features of both chronic eosinophilic leukemia, not otherwise specified (CEL, NOS) and systemic mastocytosis (SM). The bone marrow demonstrated a myeloproliferative neoplasm with eosinophilia and aggregates of atypical mast cells. Cytogenetic analysis revealed a t(13;14)(q12;q32), which was subsequently molecularly characterized as a novel TRIP11-FLT3 rearrangement. A KIT D816V mutation was also identified...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29021476/a-rare-monocytic-crisis-of-chronic-myelogenous-leukemia-presenting-with-unusual-extramedullary-manifestations-and-an-atypical-14-22-q24-q11-2-translocation-in-the-bone-marrow
#9
Morihiro Inoue, Masao Hagihara, Tomoyuki Uchida, Jian Hua, Takeshi Nakajima, Shogo Tajima, Yasunori Ota
A 48-year-old man was admitted due to marked leukocytosis. Bone marrow examinations resulted in a diagnosis of Philadelphia (Ph) chromosome-positive chronic myeloid leukemia. One month later, massive muscle and bone invasion by leukemic cells was detected. After induction chemotherapy, he complained of a headache and visual loss, which was caused by a leukemic infiltration in the central nervous system. After temporary remission in response to chemotherapy, the disease relapsed in the form of an intracranial tumor...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28983816/recent-progress-in-chronic-neutrophilic-leukemia-and-atypical-chronic-myeloid-leukemia
#10
REVIEW
Kim-Hien T Dao, Jeffrey W Tyner, Jason Gotlib
PURPOSE OF REVIEW: We reviewed recent diagnostic and therapeutic progress in chronic neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (aCML). We summarized recent genetic data that may guide future efforts towards implementing risk-adapted therapy based on mutational profile and improving disease control and survival of affected patients. RECENT FINDINGS: Recent genetic data in CNL and aCML prompted modifications to the World Health Organization (WHO) diagnostic criteria, which have improved our understanding of how CNL and aCML are different diseases despite sharing common findings of peripheral granulocytosis and marrow myeloid hyperplasia...
October 2017: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/28927137/atypical-chronic-myeloid-leukemia-with-isochromosome-x-p10-a-case-report
#11
Masahide Yamamoto, Sayaka Suzuki, Jun-Ichi Mukae, Keisuke Tanaka, Ken Watanabe, Gaku Oshikawa, Tetsuya Fukuda, Naomi Murakami, Osamu Miura
Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). Although recurrent chromosomal and genetic abnormalities are frequently observed in aCML, none are specific to this type of leukemia. The present study reported a case of aCML associated with i(X)(p10), a rare recurrent chromosomal abnormality of hematological malignancy. A 40-year-old female was referred to the Tokyo Medical and Dental University Hospital (Tokyo, Japan) due to slight leukocytosis and anemia...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28760296/analysis-of-survival-of-patients-with-chronic-myeloid-leukemia-treated-with-imatinib-in-the-last-15-years-in-lebanon
#12
Marcel Massoud, Riwa Sakr, Fouad Kerbage, Joseph Makdissi, Jenny Hawi, Layale Rached, Fady Nasr, Georges Chahine
BACKGROUND: In the 2000s, the introduction of the tyrosine kinase inhibitor (TKI), imatinib, improved the survival outcomes of patients with chronic myeloid leukemia (CML). In Lebanon, we rapidly adopted this treatment strategy. To the best of our knowledge, this is the first study reporting the survival rates of Lebanese CML patients. We examined the rates of major molecular response (MMR) and complete cytogenetic response (CCyR) and analyzed the overall survival, progression-free survival, and event-free survival of CML patients treated with front-line imatinib in 3 university hospitals in Lebanon...
July 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28746448/fatal-toxoplasmosis-in-an-immunosuppressed-domestic-cat-from-brazil-caused-by-toxoplasma-gondii-clonal-type-i
#13
Hilda Fátima de Jesus Pena, Camila Mariellen Evangelista, Renata Assis Casagrande, Giovana Biezus, Claudia Salete Wisser, Paulo Eduardo Ferian, Anderson Barbosa de Moura, Veronica Machado Rolim, David Driemeier, Solange Oliveira, Bruna Farias Alves, Solange Maria Gennari, Sandra Davi Traverso
The objective of the study was to report on a fatal case of feline toxoplasmosis with coinfection with the feline leukemia virus (FeLV). A domestic cat (Felis silvestris catus) presented intense dyspnea and died three days later. In the necropsy, the lungs were firm, without collapse and with many white areas; moderate lymphadenomegaly and splenomegaly were also observed. The histopathological examination showed severe necrotic interstitial bronchopneumonia and mild necrotic hepatitis, associated with intralesional cysts and tachyzoites of Toxoplasma gondii that were positive by anti-T...
April 2017: Revista Brasileira de Parasitologia Veterinária, Brazilian Journal of Veterinary Parasitology
https://www.readbyqxmd.com/read/28666496/atypical-chronic-myeloid-leukemia-bcr-abl1-negative-in-a-5-month-baby-arare-presentation
#14
Nazish Saqlain, Nisar Ahmed
Atypical chronic myeloid leukemia (aCML) is a neoplasm with poor prognosis, characterized by myeloid hyperplasia, dysmyelopoiesis and absence of BCR-ABL1 gene. Clinically, the disease course may be similar to chronic myeloid leukemia (CML), BCR-ABL1 positive. It presents in seventh to eighth decade of life with few cases of paediatric aCML being reported. Here, we report a case of aCMLin a 5-month baby who presented with massive splenomegaly. The diagnosis was in accordance with the WHO criteria established in 2008...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28656128/atypical-presentation-of-chronic-myelogenous-leukemia
#15
Katelyn Mariko Updyke, Joan Morales-Lappot, Theodore Lee
Chronic myelogenous leukemia (CML) is a clonal myeloproliferative disorder characterized by the presence of the Philadelphia chromosome, t(9;22), which is a constitutively active tyrosine kinase that causes excessive proliferation and differentiation of myeloid cells in the bone marrow. Most patients are either asymptomatic or present with fatigue, abdominal fullness, and splenomegaly. This is a case in which a 72-year-old Caucasian male's initial presentation of CML was new-onset atrial fibrillation, chronic obstructive pulmonary disease (COPD) exacerbation, and pneumonia...
May 26, 2017: Curēus
https://www.readbyqxmd.com/read/28527402/a-rare-e13a3-b2a3-bcr-abl1-fusion-transcript-with-normal-karyotype-in-chronic-myeloid-leukemia-the-challenges-in-diagnosis-and-monitoring-minimal-residual-disease-mrd
#16
M-H Duan, H Li, H Cai
Patients with chronic myeloid leukemia (CML) have a t (9;22)(q34;q11.2) or variant translocation that results in a BCR-ABL1 fusion gene. For many years, conventional karyotyping has been used as the standard diagnostic tool for t (9;22) (q34;q11.2). However, it has several limitations that may lead to failure for detecting BCR-ABL1 gene rearrangements in around 5% of all CML patients. Although reverse transcription polymerase chain reaction (RT-PCR) has evolved as a sensitive method for detecting BCR-ABL1 translocation, this method fail to detect certain BCR-ABL1 fusion transcript type, such as e13a3 (also known as b2a3), as a result of many commercially available and laboratory-developed primer sets...
August 2017: Leukemia Research
https://www.readbyqxmd.com/read/28447248/somatic-setbp1-mutations-in-myeloid-neoplasms
#17
REVIEW
Hideki Makishima
SETBP1 is a SET-binding protein regulating self-renewal potential through HOXA-protein activation. Somatic SETBP1 mutations were identified by whole exome sequencing in several phenotypes of myelodysplastic/myeloproliferative neoplasms (MDS/MPN), including atypical chronic myeloid leukemia, chronic myelomonocytic leukemia, and juvenile myelomonocytic leukemia as well as in secondary acute myeloid leukemia (sAML). Surprisingly, its recurrent somatic activated mutations are located at the identical positions of germline mutations reported in congenital Schinzel-Giedion syndrome...
June 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28314085/targeted-next-generation-sequencing-and-identification-of-risk-factors-in-world-health-organization-defined-atypical-chronic-myeloid-leukemia
#18
Mrinal M Patnaik, Daniela Barraco, Terra L Lasho, Christy M Finke, Kaaren Reichard, Katherine P Hoversten, Rhett P Ketterling, Naseema Gangat, Ayalew Tefferi
Atypical chronic myeloid leukemia (aCML) is an aggressive myeloid neoplasm with overlapping features of myelodysplastic syndromes (prominent granulocytic dysplasia) and myeloproliferative neoplasms (neutrophilic leukocytosis). We studied 25 molecularly-annotated and World Health Organization defined aCML patients; median age 70 years, 84% males. Cytogenetic abnormalities were seen in 36% and gene mutations in 100%. Mutational frequencies were, ASXL1 28%, TET2 16%, NRAS 16%, SETBP1 12%, RUNX1 12%, ETNK1 8%, and PTPN11 4%...
June 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28237383/a-cardiac-tamponade-in-the-hypertensive-patient-presenting-as-abdominal-fullness
#19
William Li, Rogin Subedi, Bhaskara Madhira
Cardiac tamponade is a medical emergency consisting of an accumulation of fluid in the pericardial space which is rapidly progressing and fatal. Because cardiac tamponade is ultimately a clinical diagnosis, mindful consideration for atypical presentations is essential for the reduction of mortality in the acute setting. Our patient was a 77year-old female admitted after presenting with general malaise, weakness, somnolence, altered mental status and urinary incontinence found to have CML (chronic myeloid leukemia) on confirmatory bone marrow biopsy after suspicions arose from a leukocytosis of 34,000 cells per mcL with 85% neutrophils and elevated blasts (8%)...
June 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28205462/atypical-chronic-myeloid-leukemia-in-a-german-shepherd-dog
#20
Christina L Marino, Jimmy N S N Tran, Tracy Stokol
A 4-y-old neutered male German Shepherd Dog was presented with a 3-d duration of lethargy, restlessness, and vomiting. Physical examination revealed generalized lymphadenopathy, pale mucous membranes, systolic heart murmur, dehydration, and fever. Hematologic abnormalities included moderate-to-marked leukocytosis, characterized by neutrophilia with a left shift to progranulocytes and 2% presumptive myeloid blasts, marked anemia that was nonregenerative, and marked thrombocytopenia. Dysplasia was evident in neutrophils and platelets...
May 2017: Journal of Veterinary Diagnostic Investigation
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