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Standards and guidelines for acute leukemia diagnostic test result reports: bone
Standards and Guidelines for Reporting Diagnostic Test Results in Acute Leukemia
Patients: Bone Marrow Examination, Flow Cytometry, and Cytogenetic/Molecular
Genetics Tests
Blocker 1 · Kim In-sook 2 · Park Sang-hyuk 3 · Lee Seung-tae 4 · Hwang Sang-mi 5 · Heo Jeong-won 6 · Heo Hee-jin 7 · Song Jae-woo 4 · Park No-jin 1 · Lee Young-jin 8 · Kim Yong-gu 9 · Gong Seon-yeong 10; Korean
Hae In Bang, M.D.1 , In-Suk Kim, M.D.2 , Sang Hyuk Park, M.D.3 , Seung-Tae Lee, M.D.4 , Sang Mee Hwang, M.D.5 ,
Sun-Young Kong, M.D.10; The Committee for Standardization in Korean Society for Laboratory Hematology
Department of Laboratory Medicine 1, Seoul Hospital Affiliated with Soonchunhyang University , Yangsan Pusan National University Hospital Department of Laboratory Medicine 2 , Department of Laboratory Medicine, Ulsan University Hospital, College of Medicine, University of Ulsan 3 ,
Yonsei University College of Medicine, Department of Laboratory Medicine 4 , Department of Laboratory Medicine 5, Seoul National University Bundang Hospital , Ewha Womans University College of Medicine, Department of Laboratory Medicine 6 , Dongguk University Ilsan Hospital National Cancer Center
Department of Laboratory Medicine 7 , Department of Laboratory Medicine, Wonkwang University Hospital 8 , Department of Laboratory Medicine, Seoul St. Mary's Hospital, Catholic University 9 , Department of Laboratory Medicine 10
Department of Laboratory Medicine1 , Soonchunghyang University Seoul Hospital, Seoul; Department of Laboratory Medicine2 ,
Pusan National
Yangsan University Hospital, Yangsan; Department of Laboratory Medicine3 , University of Ulsan College of Medicine and Ulsan University Hospital, Ulsan;
Department of Laboratory Medicine4 ,
Yonsei University College of Medicine, Seoul; Department of Laboratory Medicine5 ,
Seoul
National University Bundang Hospital, Seongnam; Department of Laboratory Medicine6 ,
Ewha Womans University, College of Medicine,
Mokdong Hospital, Seoul; Department of Laboratory Medicine7 , Dongkuk University Ilsan Hospital, Goyang; Department of Laboratory Medicine8
, Wonkwang University Hospital, Iksan; Department of Laboratory Medicine9 , Catholic University Seoul St. Mary’s Hospital, Seoul; Department of
Laboratory Medicine10, National Cancer Center Hospital, Goyang, Korea
Reports on hematological neoplasms are produced in various formats in different laboratories. For best patient care, standardization of reports
adopting a format that provides concise and clear information is necessary. To this end, the Diagnostic Hematology Standardization Committee,
or-ganized by the Korean Society for Laboratory Hematology, has proposed a standardized format for reporting diagnostic test results for acute
leu-kemia patients. It is hoped that this standardization will broadly improve communication with clinicians and improve patient care.
Key Words: Standardization, Report, Acute leukemia, Bone marrow, Flow cytometry, Genetics
Introduction Much of the diagnostic activity is based on topoietic and lymphoid tissue.
This is a situation where righteousness has been fulfilled. The 4th revised edition came out in 2017, and
Diagnosis of hematological tumors is based on the WHO Classication of Tumours of Haema- Constant revisions and improvements are made based on opinions and data from experts.
Losing [1]. However, reports related to hematological-oncological diseases are published separately by each laboratory.
This article is available from https://www.labmedonline.org in Hematology (ICSH) in 2008 and 2016
2021, Laboratory Medicine Online Also proposed by the College of American Pathologists (CAP)
This is an Open Access article distributed under the terms of the Creative Commons
Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) There is a standard [2, 3], and for flow cytometry reports, it is based on flow
which permits unrestricted non-commercial use, distribution, and reproduction in any
medium, provided the original work is properly cited. cytometry and reporting proposed at the 2006 Beth-esda Consensus Conference.
eISSN 2093-6338
www.labmedonline.org 1
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There is a 2007 Clinical Laboratory Standardization Institute (CLSI) guideline for standard ophthalmology [4, 5], and treatment history), composition of specimen, bone marrow specimen collection site, and unilateral and bilateral procedure
but it does not reflect the recent situation. 2) Describe the presence of red blood cells, white blood cells, and platelets based on peripheral blood findings .
There are no updated reports due to the current situation. Cell/Molecular Genetics Report 2014 Describe the number, distribution, and abnormal cells. 3) In the bone marrow cell differentiation count,
Year : Quality Committee of the European Society of Human Genetics Cells included in nuclear cell differentiation include blast cells, promyelocytes, myelocytes , and metamyelocytes.
(ESHG) and 2016 American Medical Genetics and Heredity There are macronuclear neutrophils, macroneutrophils , neutrophils, eosinophils, basophils, mast cells , premonocytes,
There are guidelines proposed by the American College of Medical monocytes, lymphocytes, plasma cells, histiocytes, and erythroblasts, as well as megakaryocytes and sesame cells.
Genetics and Genomics (ACMG) [6, 7]. However, in Korea, in 2010 Smudge cells , osteoblasts, osteoclasts, stromal cells, metastatic cancer cells
Bone marrow sample and report standardization guidelines proposed by the Korean Diagnostic and Hematological Society Non-hematopoietic cells such as cysts are not included in the nucleated cell differentiation count. 4) For bone
In addition to the standard plan for acupuncture and peripheral blood blood count testing reported in 2019 [8] marrow aspiration findings, first record the number, distribution, and atypia of hematopoietic cells such as
There are no standardized writing guidelines, and in the case of next-generation sequencing reports, erythroid, myeloid, and platelet cells after describing the adequacy of the specimen, and lymph
The current situation is that there are no standardization reports proposed either domestically or internationally. Describe spheres, plasma cells, and abnormal cells. 5) Bone marrow biopsy findings also
Accordingly, the Diagnostic Blood Standardization Committee formed by the Korean Society of Diagnostic Hematology After assessing the quality of the sample , cell fidelity and the
Related to the diagnosis of acute leukemia, a representative hematological tumor disease Describe numbers, distribution, etc. If possible, describe the bone marrow section and
We would like to propose a standard report centering on the report. acute white In the case of other special tests, cytochemistry, immunohistochemistry , immunophenotyping, cell oil
Blood clot report, bone marrow test report, flow cytology report, cytology report
Divide into pre-test report and molecular genetic test report and report molecular genetic test Test results such as cytogenetics and molecular genetics
Old books are broadly classified into next-generation sequencing and other molecular genetic tests. Describe the department. If you have previous bone marrow findings, include previous results.
It was. In addition, the Korean report was presented as a basis, and the English report was all. Other diagnosis-related tests and references that may be helpful in diagnosis
Added to Supplementary . Referring to domestic and foreign guidelines and studies If there is a term , it is described as an additional explanation (Fig. 1, Supplementary Fig. 1).
This standard not only standardizes test reports but also allows clinicians to
It is expected that it will be helpful in communication and patient care. Flow Cytology Report
Bone marrow test report Standard draft for acute leukemia immunophenotyping flow cytometry report
CLSI H43-A2 (Clinical Flow Cytometry of Neoplastic Lymphohematopoietic Cells) [5] and
ICSH for standardization of bone marrow samples and bone marrow examination reports in 2008 2006 Bethesda International Standards for Immunophenotypic Analysis of Lympho-Hematopoietic Tumors Vol.
Guidelines [3], bone marrow specimens and bone marrow proposed by the Korean Society of Diagnostic Hematology in 2010 Based on the draft [4], the essential contents that should be included in the report are included.
Test report standardization guidelines and bone marrow examination report published by CAP in 2016 Written by W.
Based on the full report [2], it contains essential contents to be included in the report. For the diagnosis of acute leukemia, clinical information, morphology, immunophenotype, and
It was written together. A variety of information, including genetic information, is required, and a decision is made by combining all of this information.
The standardization report is the first one necessary from the point of view of completeness. [1, 9]. Flow cytometry results determine cell lineage, degree of differentiation, and
Firstly, to be able to describe the bone marrow type well, and secondly, to obtain a bone marrow sample. It is important in measuring the hair cell ratio, etc. [10]. Additionally, at the time of diagnosis ,
Third, the order of result reporting so that additional test results can be included in the Detection of normal expression phenotypes, etc. and minimal residual disease during subsequent follow-up tests
, and fourth, include the components necessary for accurate data composition. It is also useful for detection [11-13]. Therefore, accurately selecting the mother cell area
Fifth , clinical information and laboratory information to be included in the standard report It is important to note that when testing is performed using multiple tubes, the same group
The focus was on selecting and writing a standardized report. With one assay, it is important to provide immunophenotypic results.
The bone marrow test result report for the diagnosis of acute leukemia includes 1) clinical information The patient information is included in the flow cytometry report for the diagnosis of acute leukemia.
2) peripheral blood smear, 3) bone marrow cell differential count, 4) bone marrow aspiration findings, 5) bone Information, sample information and test-related information, and results must be included.
marrow biopsy findings, 6) bone marrow coagulation section findings, 7) other special tests, 8) previous bone do. Patient information includes name, registration number, date of birth, age, gender, and prescription.
Hydrogen findings and 9) diagnosis and additional comments must be included. Depending on each hospital's Physician, clinical findings (diagnosis and treatment history) , previous flow cytometry results, other tests
policy, the diagnosis may be described first. It may include company results, etc. Sample information includes sample number, sample collection
And, it may be described as a conclusion last. Day, date of specimen receipt, specimen type (bone marrow, peripheral blood), specimen quality (status, cells)
If you look at each relevant content in detail, 1) clinical information includes clinical findings (diagnosis Survival rate) , etc. are recorded, and test-related information includes test date, tester, and use.
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1 Patient name: OOO Registration number: 1234567 Gender/Age/Date of birth: Female/70/1950.01.01 28 Giant cell formation: decreased-abnormal giant cell formation (-)
and Oncology 3 Specimen number: Sample collection date: 2020.01.03 9:00 AM 30 Plasma cells: 0.1%
7654321 4 Specimen reception date: 2020.01.03 9:30 AM 31 Abnormal cells: none except mother cells with bilobed nuclei
5
32 Atypia (-)
6 33
7 < Bone marrow examination report > 34 <Bone marrow biopsy findings>
35 Appropriateness: Appropriate
8 Bone marrow test number: BM2020-001
36 Cellularity: Hypercellular (100%)
9 Clinical findings (diagnosis and treatment history): Observation of peripheral blood blast cells
37 Erythrocytosis: decreased
10 Sample: peripheral blood (V)/bone marrow aspiration (V)/bone marrow biopsy (V)
38 Myeloid formation: increased - left distribution - increased blast cells
11 Collection site: Posterior iliac ridge (V)/Other sites ( )
39 Giant cell formation: decreased - dysmorphic (-)
12 Both sides ( )/Left ( )/Right (V)/N/A ( )
40 Lymphocytes, plasma cells, abnormal cells: no abnormalities
13
41
14 <Diagnosis name>
42 <Bone marrow coagulation section findings>
Fig. 1. Sample bone marrow report for a patient diagnosed with acute myeloid leukemia, PML-RARA according to consensus guidelines.
Antibodies, etc. may be included. The test results show scattered light from the hair cells. all. As an example, the flow cytometry result report when diagnosing acute leukemia is
(light scatter) and immunophenotype are described. Moses against a specific group Fig. 2, Supplementary Fig. Same as 2. Used to identify microscopic residual disease
It describes the proportion of blasts, the fluorescence distribution of blast cells (negative, positive, partially In the case of cytology, the information to be included in the result report is slightly different.
expressed), and the fluorescence intensity (dark, normal, bright, variable) of the blast cell population As shown in Fig. 3, Supplementary Fig. It is presented in 3.
And if the abnormal blast cell population is not detected, the normal cell population Cytogenetic test report
Describe the immunophenotype and characteristics of . Abnormal blast fraction was detected.
If presented, immunophenotype and differential diagnosis should be included. If possible The cytogenetic test report includes the chromosome test results and FISH result report.
It is recommended to interpret based on the WHO classification [1], and related tests and It was written based on the content that must be included [6, 7, 14, 15]. Cytogenetic testing identifies the
If clinical information is available, a specific diagnosis may be included. purpose for which the test was requested and provides
there is. Notes include limitations of the test, limitations in interpretation, and reading date. It is important to report so that we can provide useful information.
Enter the contact information of the reader, reader, and reader. The chromosome test result report includes patient personal information and chromosome request.
When describing results, what is the point of entering the positivity rate for each antibody? sample information, chromosome test method, chromosome results, chromosome result interpretation ,
This is recommended as it may be unclear whether the positivity rate is described based on the population. Contents such as cloth inspection and limitations of inspection must be included. chromosome results
It is appropriate to describe antigens that were positive or negative without is the International System for Human Cytogenomic
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67 Patient name: OOO 68 Registration number: 1234567 Gender/Age/Date of birth: Female/70/1950.01.01 129 Patient name: OOO Registration number: 1234567 Gender/Age/Date of birth: Female/70/1950.01.01
Department: Department of Hematology Attending physician: OOO 130 Department: Department of Hematology Attending physician: OOO
and Oncology 69 Specimen number: Sample collection date: 2020.01.03 9:00 AM and Oncology 131 Specimen number: Sample collection date: 2020.01.03 9:00 AM
7654321 70 Specimen reception date: 2020.01.03 9:30 AM 7654321 132 Specimen reception date: 2020.01.03 9:30 AM
71 133
72 <Leukemia/Lymphoma Flow Cell Immunophenotyping Test Result Report> 134 <Micro residual disease (flow cytometry) result report>
139
77 <Result>
140 <Result>
141
Immunophenotype consistent with B-lymphocytic leukemia.
78
Microscopic residual disease positive, abnormal immature B-cell population detected
Fluorescence distribution of antibodies (CDs) used Fluorescence distribution Fluorescence intensity of antibodies (CDs) used 142
150 <Method>
cytCD79a positive commonly Myeloperoxidase negative
151 Antibodies used: CD81, CD73, CD66c/CD123, CD34, CD19, CD10, CD20, CD38, CD45 152 Total number of analysis events:
79
0,000,000
80 A dark CD45, low SSC blast population is observed in approximately 80% of all cells. The blast cells were positive for HLA-DR, 81 CD10, CD38, TdT, hematopoietic 153 Detection limit: 0.000%
stem cell antigen CD34, and B-lymphocyte antigen CD19, cytCD79a, and cytCD22. 154 Limit of quantification: 0.000%
82 and some are positive for CD33, a myeloid antigen. Other myeloid and T-lymphocyte antigens were negative. remind 155
83 The results are consistent with B-lymphocytic leukemia. 156 <Previous results>
The chromosomal karyotype should be indicated based on the nomenclature . This Record the type of probe (break apart, dual color dual fusion, centromere
One notation is difficult for clinicians without a background in cytogenetics to understand. probe, etc.) , and if a commercialized probe is used, contact the manufacturer.
It is difficult to understand the chromosomal abnormality results in the result interpretation section. The name of the company can be recorded, and if a self-made searcher is used,
It should be explained easily. In addition, these chromosomal results are molecular genetic The bacterial articial chromosome (BAC) name, etc. can be recorded. Record the type of cells
What does it mean and what impact does it have on diagnosis, prognosis, and treatment policy decisions? analyzed (interphase or metaphase cells) and the number of cells. In addition, the cells analyzed
It is also necessary to describe whether it can be affected. Also, past chromosome results by FISH were cells included in uncultured specimens.
It should also be included in the current results report to clearly state the patient's current condition. or whether the analysis was conducted on cells included in the sample after culture.
It can be a useful report to be able to convey. Recommended test It is also necessary to record. The FISH report method for patients with plasmacytoma includes a
It is necessary to suggest a targeted FISH test, RT-PCR, or DNA genetic mutation test based on plasma cell enrichment method using CD138 magnetic beads (mag-
the chromosomal results. karyotype netic bead), FICTION (uorescence immunophenotyping and in-terphase cytogenetics as a tool for
1 karyotype analysis image is added for each subclone . Describe whether it was used and the purity of the plasma cells after concentration .
(Fig. 4, Supplementary Fig. 4). It is also necessary to record how much it was.
The FISH result report contains the information included in the chromosome result report. FISH results are also based on international standard nomenclature, similar to chromosome karyotype notation.
Patient personal information, specimen information for which FISH was requested, FISH test It must be marked based on . Can anyone understand these FISH results?
method, FISH results, FISH result interpretation, recommended tests, limitations of FISH test, etc. It is necessary to explain it in an easy to understand manner and report it in a summarized manner. Also, each sword
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168 Patient name: OOO 169 Registration number: 1234567 Gender/Age/Date of birth: Female/70/1950.01.01 It is recommended that the points, references, and name of the reporter be described sequentially.
Department: Hematology/Oncology Attending physician: OOO
175 Clinical findings (diagnosis and treatment history): R/O acute leukemia
177
2. Reporting of real-time quantitative PCR method results
178 <Result>
Results of quantitative analysis of genetic abnormalities using real-time quantitative PCR method
Karyotype: 46,XY,t(15;17)(q24;q22)[16]/46,XY[4]
The report form includes the type of sample, test method, primer used in the test, and probe.
179
182 The remaining four cells were observed to have normal karyotype. Law, current results, previous results for the same test for the patient, name of reporter
183 t(15;17) chromosomal abnormality is associated with PML-RARA rearrangement and is a good predictor of acute promyelocytic leukemia.
185
The result report for the quantitative PCR method for the left is shown in the figure.
186 <Recommendations>
190 Microscopic deletions and genetic defects that are difficult to observe under a microscope are difficult to detect with this test method. also
191 Even if tumor cells exist, if their dividing ability is reduced in vitro, only the karyotype of normal cells can be observed.
3. Reverse transcription-multiple PCR method result report
194 <Method>
multiplex PCR method widely used for genetic analysis of acute leukemia.
195 Specimen quality: Culture method: 24 and 48 hour culture without stimulation
Appropriate 196 Staining method: G- Resolution: 400 bands (resolution measurement is not essential in hematological tumors) The form includes the type of sample, test method, screening and split-out results, types of genetic
staining method 197 Chromosome analysis Cell count: 20 Karyotype analysis cell count: 2
198 abnormalities detectable by the He-mavision test, significance of the test, and
201
The poem is shown in the picture (Fig. 8, Supplementary Fig. 8) [17].
202 Report date: 2020.01.06 3:00 PM
Fig. 4. Sample chromosome analysis report for a patient diagnosed (next-generation sequencing, NGS) report
with acute myeloid leukemia, PML-RARA according to consensus
guidelines.
One of the most important factors when constructing an NGS report is brevity. The report is short,
It is recommended that the patient also present the reference value set in the fact sheet on the result sheet. simple, and organized so that the main points can be understood at a glance.
It can be helpful in understanding the resulting judgment. FISH results are “positive It must be. Clinically important information is placed at the beginning of the report
Rather than labeling it as “voice” or “voice,” it should be written as “abnormal” or “normal.” It is recommended that the information after the second page be passed on to your doctor.
It is more preferable to write as . In addition, a FISH explorer that can be useful for follow-up observation You should keep in mind that there is a high possibility that it will not happen. Important information
based on FISH results with abnormal results It should be structured so that it is easy on the eyes, and if possible, the overall clarity of the report can be
It is necessary to present this to the recommended examination. Also attached FISH image improved by presenting information in graphs, charts, and tables.
It can be done (Fig. 5, Supplementary Fig. 5). There is (Fig. 9, Supplementary Fig. 9).
1) Nomenclature
1. Reporting of genetic mutation results by direct sequencing All detected genetic variants were classified according to HUGO nomenclature (http://www.gene-
The genetic mutation result reporting form includes the type of sample and the type to be analyzed. names.org) and Human Genome Variation Society (HGVS) nomenclature .
Electronic name, test method, location and base sequence of the gene to be tested (http://www.hgvs.org), NCBI standard sequence (RefSeq, https://www.
National Center for Biotechnology Information (NCBI) reference number, ncbi.nlm.nih.gov/refseq/), and the standard genome build version must be included [18]. In addition,
Three types of information, interpretation and significance of discovered genetic abnormalities, and limitations of testing methods Additional titles may be included. For example, the promoter of the TERT gene
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Patient name: OOO Registration number: 1234567 Gender/Age/Date of birth: Female/70/1950.01.01 Patient name: OOO Registration number: 1234567 Gender/Age/Date of birth: Female/70/1950.01.01
Department: Department of Attending physician: OOO Department: Department of Attending physician: OOO
Hematology and Oncology Sample collection date: 2020.01.03 9:00 AM Hematology and Oncology Sample collection date: 2020.01.03 9:00 AM
Specimen number: 7654321 Specimen reception date: 2020.01.03 9:30 AM Specimen number: 7654321 Specimen reception date: 2020.01.03 9:30 AM
Clinical findings (diagnosis and treatment history): R/O acute leukemia Specimen Type: Bone Marrow
Specimen Type: Bone Marrow Sample quality: good Analyzed gene name: CEBPA
Results of interphase cell FISH using 8 probes Base number and observed base Amino acid number and observed amino acid Mutations/polymorphisms
In 78% interphase cells ( KMT2A MLL ) was observed to be rearrangement positive. change change
Result I
1) BCR-ABL1 0.0% ( 0/200) 0.0% Normal 1.5% of the patient seen CEBPA As a result of analyzing the base sequence of the coding region of the gene, between bases 232 and 233
2) RUNX1-RUNX1T1 ( 0/200) 0.0% ( 0/200) Normal 1.5% A mutation occurred in which GGAA was inserted, and in this mutation, amino acid 78 was changed from Leucine.
CCAAT/enhancer binding protein ÿ (CEBPA) is involved in proliferation and differentiation of myeloid cells.
nuc ish ( ABL1 , BCR ) x 2 [ 200 ] Mutations are known to be found. CEBPA The gene has an N-terminal frameshift mutation and a C-
nuc ish ( RUNX 1 T1 , RUNX 1 ) x 2 [ 200 ] nuc Mutations commonly occur in the form of terminal in-frame mutations, and among AML patients NPM1 class FLT3-ITD
ish ( PML , RARA ) x There are many reports related to mutations. bilateral CEBPA Genetic mutations in AML patients
<Interpretation of results>
KMT2A rearrangements, rearrangements with partner chromosomes are poor inKMT2A Polymerase chain reaction and direct sequencing method
Except for associated AML.
CEBPA
Gene location: (CCAAT/enhancer binding protein, alpha) on chromosome 19q13.1
The prognosis is reported.
CEBPA
Test area: coding region Accession number:
NM_004364.3 (GRCh37/hg19)
<Recommendations>
Fig. 6. Sample gene mutation test report for a patient with CEBPA
<Method>
Fig. 6. Sample gene mutation test report for a patient with CEBPA mutation Includes notes [W Company 6
PML/RARA DC, DF translocation probe It is recommended to report the commonly known name (TERT C228T) together.
CBFB dual color, break apart rearrangement probe
<Past results> All detected genetic mutations were identified by the American
doesn't exist
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Patient name: OOO Registration number: 1234567 Gender/Age/Date of birth: Female/70/1950.01.01 Patient name: OOO Registration number: 1234567 Gender/Age/Date of birth: Female/70/1950.01.01
Department: Department of Attending physician: OOO Department: Hematology and Oncology Attending physician: OOO
Hematology and Oncology Sample collection date: 2020.01.03 9:00 AM Sample number: 7654321 Sample collection date: 2020.01.03 9:00 AM
Specimen number: 7654321 Specimen reception date: 2020.01.03 9:30 AM Sample reception date: 2020.01.03 9:30 AM
< BCR-ABL1 Real-time quantitative PCR report> <Hemavision (Multiplex nested RT-PCR)>
Clinical findings (diagnosis and treatment history): Acute leukemia diagnosis
<Result>
<Result>
Screening polymerase chain reaction results positivity
t(9;22)(q34.1;q11.2) BCR/ABL1 -
<Reference value>
t(15;17)(q24.1;q21.2) PML/RARA Detected
t(8;21)(q22;q22.1) RUNX1/RUNX1T1 (AML1/ETO )
-
voice
t(12;21)(p13.2;q22.1) ETV6/RUNX1 (TEL/AML1 ) -
inv(16)(p13.1q22) CBFB/MYH11 -
-----------------------------------------------------------------------------------------------------------
<Method>
t(6;9)(p23;q34.1) DECK/NUP214 -
(1) RNA extraction and reverse transcription from specimen. ETV6/ABL1 (TEL/OBL1 ) -
t(9;12)(q34.1;p13.2)
ABL1 t(5;12)(q32;p13.2) ETV6/PDGFRB (TEL/PDGFRB ) -
(2) BCR/ABL1 mRNA specific region and Polymerase chain using a primer matching the gene region
t(16;21)(p11.2;q22.2) FUS/ERG -
t(3;5)(q25.3;q35.1)
t(5;17)(q35.1;q21.2) NPM1/RARA -
Hybridization and polymerase chain reaction with cDNA amplified by polymerase chain reaction using a double-stained probe RUNX1/MECOM (AML1/EAP/MDS/EVI1
-
t(3;21)(q26.2;q22.1) )
t(9;9)(q34.11;q34.1) SET/NUP214 -
*The official gene symbol approved by the HGNC (HUGO Gene Nomenclature Committee).
<Previous result> **
KMT2A/AFDN, KMT2A/AFF1, KMT2A/ELL, KMT2A/MLLT1, KMT2A/MLLT3, KMT2A/EPS15, KMT2A/FOX04,
KMT2A/MLLT6, KMT2A/MLLT10, KMT2A/MLLT11.
Inspection date Specimen type Bone result
2019-09-06 Bone marrow aspiration fluid IS_NCN: 0.036618 The Hemavision Leukemia multiplex PCR test detects chromosomal rearrangements associated with leukemia using Multiplex nested-
By using the PCR method, 28 types of genetic abnormalities are tested at once, which can be missed through karyotype analysis.
<Method>
(4) Electrophoresis
It is better to report mutations in tabular form, with classification of mutations and genes. Methodological details and limitations of the test are provided at the bottom of the report.
name, standard sequence, nucleotide variation, amino acid variation, allele It must be tested and includes inspection methods and performance, especially cover-age
Includes variant allele frequency (VAF) (Table 2), and in addition gaps, limit of detection, and minimal cover - age depth (Table 3). The report actually states
Horizontal depth, normal frequency, etc. can be reported. doctor's intention that
Clinical and disease- related responses to discovered genetic mutations to aid in decision-making Details of the award must be included. Total bases in all genes
It is useful to provide interpretive opinions in a logical context. Tier I If the sequence is not analyzed, the specific location of the gene tested must be included.
It is recommended to provide an interpretive opinion regarding variations in Tier II and Tier It must be. Sequencing platform, data analysis pipeline, reference genome
III, and a detailed interpretation of Tier III should be balanced with the brevity of the report. A system used to filter and prioritize versions, variants.
It must be done. Interpretive opinions are based on the frequency and function of mutations for specific cancers. System and logic must also be included. In addition, structural factors such as deep
May include relevance to impact, diagnosis and prognosis. introns or gene copy number variants
https://doi.org/10.47429/lmo.2021.11.1.1 www.labmedonline.org 7
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reporting
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for
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HGVS
al.
et
DR,
Maglott
R,
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JT,
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den
1.
genes
test
2016.
mutation
Human
Update.
2016
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painting
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17(5):
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journal
official
medicine:
in
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Association
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recommendation
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diagnostics,
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al.
et
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http://
Seattle;
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of
University
(WA):
Seattle
GeneReviews:
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significance
clinical
and
results
of
Interpretation
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VPS45, www.omim.org/.
http://
University;
Hopkins
Johns
(OMIM).
Man
in
Inheritance
Mendelian
Online
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chromosome
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Abbreviation:
https://doi.org/10.47429/lmo.2021.11.1.1
Haek-in et al.: Standards for Reporting Acute Leukemia Diagnostics
Machine Translated by Google
Abbreviations: ASCO/AMP, American Society of Clinical Oncology/ Association for Molecular Pathology; VAF, variant allele frequency.
inspection equipment Massively parallel sequencing was performed using NextSeq 550Dx System (Illumina) equipment.
data analysis pipeline Quality control and sequencing were performed using a self-made analysis pipeline. Gene copy number analysis is also performed using a self-made analysis pipeline.
carried out.
GRCh37 (hg19) was used as the standard base sequence for reference sequence mapping and variant calling.
classification of mutations All mutations were classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines, and benign or highly likely benign mutations were excluded.
Mutations are classified into four tiers based on their clinical significance for cancer diagnosis, prognosis, and treatment. It follows the standards and guidelines of the
Association for Molecular Pathology (AMP), the American Society of Clinical Oncology (ASCO), and the College of American Pathologists (CAP).
Includes description of probable genetic abnormalities. Quality control indicators International Agency for Research on Cancer, 2017.
Although it is not recommended to include them in detail in the report, 2. Sever C, Abbott CL, de Baca ME, Khoury JD, Perkins SL, Reichard KK,
Including indicators so that attending physicians can confirm that quality indicators have been met et al. Bone marrow synoptic reporting for hematologic neoplasms:
It can be included to do so. Guideline from the College of American Pathologists Pathology and
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Reports related to hematological-oncological diseases are prepared in various formats for each laboratory. Int J Lab Hematol 2008;30:349-64.
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There is a need for standardization of reports that can provide information. For this purpose, 2006 Bethesda International Consensus recommendations on the
The Diagnostic Blood Standardization Committee formed by the Society of Diagnostic Hematology immunophenotypic analysis of hematolymphoid neoplasia by ow
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The authors declare that they have no conflicts of interest related to this study. ond edition. CLSI document H43-A2. Wayne, PA: Clinical and Labora-
Review by academic committee members of the Korean Diagnostic Hematology Society and Korean Diagnostic Blood in 2020 ing (biochemical, cytogenetic and molecular genetic). Eur J Hum
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