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What's in a Name? The Many Classifications of Acute Myeloid Leukemia with Dysplasia. 名字里有什么?急性髓系白血病伴不典型增生的多种分类。
Journal of the Association of Genetic Technologists Pub Date : 2023-01-01
Nicholas C Taylor, Joanna L Conant, Juli-Anne Gardner
{"title":"What's in a Name? The Many Classifications of Acute Myeloid Leukemia with Dysplasia.","authors":"Nicholas C Taylor,&nbsp;Joanna L Conant,&nbsp;Juli-Anne Gardner","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a high-risk subtype of AML that has recently undergone significant reclassification. Proper classification requires the integration of clinical history and diagnostic studies including peripheral blood and bone marrow morphology, flow cytometry, cytogenetic and molecular studies. The latter have significant clinical and prognostic implications. We present a case of a 55-year-old male diagnosed with AML-MRC with a pathogenic variant in TP53 and amplification of KMT2A (MLL) without rearrangement. We discuss presentation, importance of diagnostic testing through multiple modalities, and the changes in classification and diagnostic criteria between the 2017 World Health Organization (WHO) revised 4th edition and the WHO 5th edition and International Consensus Classification (ICC).</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"49 2","pages":"93-99"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9622347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A CRLF2 Rearrangement in a Pediatric Patient with B-ALL Detected by FISH Within the Context of a Complex Abnormal Karyotype. 在复杂异常核型的背景下，FISH检测B-ALL儿童患者的CRLF2重排。
Journal of the Association of Genetic Technologists Pub Date : 2022-01-01
Carlos A Tirado, Yuri Lin, Ruby Tang, Aarushi Bajpai, Wilson Yeh, Sarvenaz Karamooz, Ari Rao
{"title":"A CRLF2 Rearrangement in a Pediatric Patient with B-ALL Detected by FISH Within the Context of a Complex Abnormal Karyotype.","authors":"Carlos A Tirado,&nbsp;Yuri Lin,&nbsp;Ruby Tang,&nbsp;Aarushi Bajpai,&nbsp;Wilson Yeh,&nbsp;Sarvenaz Karamooz,&nbsp;Ari Rao","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>B-cell acute lymphoblastic leukemia (B-ALL) is one of the prevalent pediatric leukemias, accounting for 26% of cancers diagnosed in children 0-14 years of age. We present a case report of an 11-year-old girl with B-ALL. The patient was in complete remission nine months after diagnosis but passed away a month later from chemotherapy-induced hepatic failure, renal failure, and febrile neutropenia. Conventional cytogenetics showed a karyotype of 46,XX,del(5)(q31q35),add(6)(q23),del(7)(q32q36),add(11)(q23),ider(21)(q10)add(21) (q22),inc[20]. DNA FISH analysis performed on the bone marrow showed variant rearrangement of CRLF2, as well as loss of ETV6 signals and gain of RUNX1 signals. The presence of CRLF2 rearrangements within the context of a complex karyotype is often associated with CRLF2 overexpression and poor prognosis. The heterogeneity of B-ALL and the variability in the outcomes of patients that lack characteristic genetic abnormalities highlight the importance of profiling unusual genetic cases such as this one and continuing research to understand the molecular mechanisms of rarer mutations.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"48 4","pages":"164-167"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35258637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mantle Cell Lymphoma Presenting with Cutaneous Lesions: A Rare Manifestation of a Systemic Disease. 以皮肤病变为表现的套细胞淋巴瘤:一种罕见的全身性疾病。
Journal of the Association of Genetic Technologists Pub Date : 2022-01-01
Nicholas Haslett, Deborah L Cook, Katherine A Devitt, Juli-Anne Gardner
{"title":"Mantle Cell Lymphoma Presenting with Cutaneous Lesions: A Rare Manifestation of a Systemic Disease.","authors":"Nicholas Haslett,&nbsp;Deborah L Cook,&nbsp;Katherine A Devitt,&nbsp;Juli-Anne Gardner","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Cutaneous lymphoma is a broad term used to describe any type of lymphoma involving the skin. They may be primary, arising in the skin, or secondary, resulting from spread of a systemic lymphoma. Cutaneous involvement of mantle cell lymphoma (MCL) is extremely rare and most often occurs secondarily. To date, less than 100 cases of MCL involving the skin have been described in the English literature. We describe a case of MCL involving the skin as the clinical presentation of disease in a 74-year-old man and highlight the radiographic and pathologic findings, treatment course, and prognosis.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"48 4","pages":"173-175"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35258636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Amplification of RUNX1 in a Patient With AML. AML患者RUNX1基因扩增
Journal of the Association of Genetic Technologists Pub Date : 2022-01-01
Rodrigo Hurtado, Stalin Tello, Juan Juarez, Carlos A Tirado
{"title":"Amplification of RUNX1 in a Patient With AML.","authors":"Rodrigo Hurtado,&nbsp;Stalin Tello,&nbsp;Juan Juarez,&nbsp;Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Acute myeloid leukemia (AML) is a heterogeneous disease, characterized by clonal expansion of undifferentiated myeloid precursors, leading to alterations in hematopoiesis and bone marrow failure. Characteristic chromosomal abnormalities in AML are translocations t(8;21), inv(16), t(15;17), t(9;22), as well as mutations of genes that regulate proliferation and survival (FLT 3, PTPN 11, ETV 6/PDGFB), or genes responsible for differentiation and apoptosis (RUNX-1/RUNX1T1, PML/RARA, KMT2A, CEBPA and CBFB). Amplification of RUNX1 is a rare event in AML. Herein we described a 60-year-old patient that was admitted to the hospital due to a clinical picture of symptoms of acute anemia, thrombocytopenia, leukocytosis, and profuse nasal bleeding, hepatomegaly, splenomegaly, and gallstones. The blood cell count indicated the presence of 72% blasts. The bone marrow also showed 97% of blasts of myeloid lineage. The flow cytometry study also showed findings compatible with AML (MPOneg/+, CD34+, CD19neg /+d, CD117+, CD38neg /+, HLA-DR ++, CD13neg /+, CD33neg, CD15neg, D56neg, CD123+, CD7neg, CD11bneg, CD64neg, CD41aneg, which represented 68% of the pathological cellularity). Chromosome analysis showed additional copies of an isochromosome 21q. FISH studies revealed five copies of RUNX1. Amplification of RUNX1 is a rare event in AML with only a few cases reported in the literature (mainly therapy related AML) and it is usually associated with poor prognosis.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"48 3","pages":"107-109"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40354797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CRLF2 Gene in B-cell Acute Lymphoblastic Leukemia. b细胞急性淋巴母细胞白血病中CRLF2基因的表达
Journal of the Association of Genetic Technologists Pub Date : 2022-01-01
Wendy Su, Alair Zhao, Jonah Nahoul, Hailey Mendelsohn, Bilal Hamid, Carlos A Tirado
{"title":"CRLF2 Gene in B-cell Acute Lymphoblastic Leukemia.","authors":"Wendy Su,&nbsp;Alair Zhao,&nbsp;Jonah Nahoul,&nbsp;Hailey Mendelsohn,&nbsp;Bilal Hamid,&nbsp;Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>B-cell acute lymphoblastic leukemia (B-ALL) is a subset of ALL that comprises 75% of ALL cases. There are a variety of chromosome aneuploidy or chromosomal rearrangements implicated in B-ALL. Deregulation of CRLF2 expression is seen in 5-15% of B-ALL patients and occurs primarily via a reciprocal translocation with immunoglobulin heavy chain (IGH), rearrangements of CRLF2, deletion within the PAR1 region of the X and Y chromosomes, and CRLF2 mutations as well as mutations of the CRLF2-involved pathways and are seen in Ph-like B-ALL. They are associated with a poor prognosis. Blinatumomab is an available immunotherapy, and there are currently a few ongoing clinical trials to treat CRLF2 B-ALL. This review focuses on the role of CRLF2 in B-ALL and summarizes the literature regarding its molecular pathways, clinical significance, incidence rates across demographics, therapies, and areas of further research.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"48 3","pages":"100-105"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40354799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Novel Detection of Chromosomal Aneuploidy by SNP Microarray Tests in Domestic Dogs. 用SNP芯片检测家犬染色体非整倍体的新方法。
Journal of the Association of Genetic Technologists Pub Date : 2022-01-01
Jaime Garcia-Heras
{"title":"The Novel Detection of Chromosomal Aneuploidy by SNP Microarray Tests in Domestic Dogs.","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>A recent report described a novel use of CMA for the first time in dogs that uncovered three cases of constitutional aneuploidy among 2,053 purebred and mixed-breed dogs. This advance is very significant because cytogenetic analysis by traditional methods in domestic dogs is technically difficult and may not conclusively identify all the abnormalities. This success with CMA testing anticipates the potential to discover more cases of canine aneuploidies as this technology becomes part of routine clinical genetic testing. As a whole, extended use of CMA is likely to uncover a wider range of chromosomal abnormalities that cause canine diseases, characterize in more detail the canine karyotype (normal and abnormal), and provide thorough cytogenomic data of an animal model useful to study human diseases. Since the platform developed for CMA that was used also allows mutation analysis for canine gene diseases, this additional technical feature permits a cost-effective and comprehensive genetic testing for diagnosis in only one step.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"48 4","pages":"160-162"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35258638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
FISH Signal Pattern for an APL Variant Translocation with a PRKAR1A-RARA Fusion. PRKAR1A-RARA融合在APL变异易位中的FISH信号模式
Journal of the Association of Genetic Technologists Pub Date : 2022-01-01
Kenian Liu, Bei You, Jessica Duncan, Angela Root, Hailing Zhang
{"title":"FISH Signal Pattern for an APL Variant Translocation with a PRKAR1A-RARA Fusion.","authors":"Kenian Liu,&nbsp;Bei You,&nbsp;Jessica Duncan,&nbsp;Angela Root,&nbsp;Hailing Zhang","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Fluorescence in situ hybridization (FISH) is a quick and reliable test to detect the reciprocal t(15;17)(q22;q21) translocation in acute promyeloid leukemia (APL). The typical signal pattern for positive t(15;17) is one red, one green, and two fusion when using a PML/RARA dual fusion translocation probe. However, for variant translocations leading to the fusion of a RARA gene with an alternate gene partner, a RARA break-apart probe should be used to verify the RARA rearrangement. The typical signal pattern for a positive RARA break-apart probe is one red, one green, and one fusion. In this study, we report a rare APL case with a PRKAR1A-RARA fusion gene with a signal pattern distinct from that of t(15;17) and its other variants.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"48 4","pages":"176-177"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35258634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Breakthrough of Accurate Molecular Characterization of MDS by NGS Testing of Cell-Free DNA (cfDNA) Isolated from Peripheral Blood. 外周血游离DNA (cfDNA)的NGS检测在MDS准确分子表征方面的突破。
Journal of the Association of Genetic Technologists Pub Date : 2022-01-01
Jaime Garcia-Heras
{"title":"The Breakthrough of Accurate Molecular Characterization of MDS by NGS Testing of Cell-Free DNA (cfDNA) Isolated from Peripheral Blood.","authors":"Jaime Garcia-Heras","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>A recent NGS study in patients with MDS demonstrated that molecular as well as cytogenetic abnormalities in cfDNA from peripheral blood mirror the profile in bone marrow. Such results give further support to a promising option of testing cfDNA to characterize and monitor MDS instead of using invasive bone marrow biopsies. This breakthrough expands the potential of cfDNA studies in hematologic disorders. It also suggests that the routine testing could incorporate cfDNA in the future once validation and standardization procedures are established and large clinical trials are completed.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"48 3","pages":"96-99"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40354798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Noninvasive Prenatal Testing Leading to a Diagnosis of Hodgkin Lymphoma. 无创产前检查可诊断霍奇金淋巴瘤。
Journal of the Association of Genetic Technologists Pub Date : 2022-01-01
Juli-Anne Gardner, Katherine A Devitt
{"title":"Noninvasive Prenatal Testing Leading to a Diagnosis of Hodgkin Lymphoma.","authors":"Juli-Anne Gardner,&nbsp;Katherine A Devitt","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Noninvasive prenatal testing (NIPT) is a screening method used to detect the most common fetal aneuploidies using cell-free fetal DNA (cffDNA) obtained from maternal blood. Due to the high sensitivity and specificity, low false positive rate, and use as early as 10-weeks' gestation NIPT has been rapidly integrated into prenatal care. While NIPT is an excellent screening tool, the results can be influenced by many factors including placental mosaicism, maternal aneuploidy or mosaicism, and occult maternal malignancy. The diagnosis and treatment of malignancy during pregnancy present many challenges ranging from the use of imaging techniques to the delivery of optimal therapy, weighing the unique risks to both the mother and the fetus. We present a case of a 30-year-old woman diagnosed with Hodgkin lymphoma after NIPT and outline the challenges in diagnosis and treatment of malignancy occurring during pregnancy.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"48 4","pages":"168-171"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35258635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Complex Karyotype in a 68-Year-Old Patient With T-PLL. 68岁T-PLL患者的复杂核型。
Journal of the Association of Genetic Technologists Pub Date : 2021-01-01
Grace E Yang, Stephanie Bottomley, Joy King, William Koss, Yuri Lin, Wilson Yeh, Carlos A Tirado
{"title":"A Complex Karyotype in a 68-Year-Old Patient With T-PLL.","authors":"Grace E Yang,&nbsp;Stephanie Bottomley,&nbsp;Joy King,&nbsp;William Koss,&nbsp;Yuri Lin,&nbsp;Wilson Yeh,&nbsp;Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>T-cell prolymphocytic leukemia, or T-PLL, is an extremely rare and highly metastatic neoplasm characterized by proliferating mature T-cells and genetic aberrations that often involve chromosome 14. While T-PLL is commonly accompanied by a complex karyotype, there is little analysis on such cases in existing literature and thorough discussions of the less \"characteristic\" cytogenetic mutations are particularly lacking. We present a case study of a 68-year-old male T-PLL patient with marked leukocytosis and a history of T-cell lymphoproliferative disorder. Chromosomal analysis revealed a complex karyotype that included a translocation of both copies of chromosome 14, rearrangements on 9p and 5p, isochromosome 8, deletion 11q, and monosomy 17. Molecular cytogenetic analysis indicated a rearrangement of TRD (14q11.2), loss of the ATM and CDKN2A signals, and gains of the RELN, TES and MYC signals. Many of these mutations have strongly corresponded to poor prognoses in patients with T-PLL and other leukemias, especially when appearing concurrently. However, there are still profound knowledge gaps in our understanding of many genetic aberrations and the significance of marker chromosomes in the context of T-PLL. Considering the lack of consensus on the improvement of patient outcomes in the past two decades as well as the frequency of a complex karyotype in T-PLL, this case study highlights the critical need of continued research efforts in profiling complex cases to provide potential avenues for novel therapeutic targets for T-PLL patients.</p>","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"47 1","pages":"16-23"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25448657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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