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==Overview== | ==Overview== | ||
Other diagnostic studies for acute lymphoblastic leukemia include [[cytogenetics]], bone marrow | Other [[diagnostic]] studies for acute lymphoblastic leukemia include [[cytogenetics]], [[bone marrow biopsy]], [[flow cytometry]], [[Reverse transcriptase polymerase chain reaction|reverse transcriptase-polymerase chain reaction]] ([[RT-PCR]]) and [[Fluorescence in situ hybridization|flouroscence insitu hybridization]] ([[FISH]]). | ||
==Cytogenetics== | ==Cytogenetics== | ||
[[Cytogenetics]] | *In [[Cytogenetics]] the following establishes whether the "blast" [[Cells (biology)|cells]] began from the [[B lymphocyte]]s or [[T lymphocyte]]s<ref name="pmid26085716">{{cite journal| author=Hakeem A, Shiekh AA, Bhat GM, Lone AR| title=Prognostification of ALL by Cytogenetics. | journal=Indian J Hematol Blood Transfus | year= 2015 | volume= 31 | issue= 3 | pages= 322-31 | pmid=26085716 | doi=10.1007/s12288-014-0483-0 | pmc=4465518 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26085716 }} </ref> | ||
**[[Philadelphia chromosome]]<ref name="pmid28554259">{{cite journal| author=Motlló C, Ribera JM, Morgades M, Granada I, Montesinos P, Mercadal S et al.| title=Frequency and prognostic significance of additional cytogenetic abnormalities to the Philadelphia chromosome in young and older adults with acute lymphoblastic leukemia. | journal=Leuk Lymphoma | year= 2018 | volume= 59 | issue= 1 | pages= 146-154 | pmid=28554259 | doi=10.1080/10428194.2017.1326596 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28554259 }} </ref> | |||
**[[immunophenotyping]] | |||
*[[DNA testing]] can establish how aggressive the disease is; different [[mutations]] have been associated with shorter or longer survival<ref name="pmid24949228">{{cite journal| author=Woo JS, Alberti MO, Tirado CA| title=Childhood B-acute lymphoblastic leukemia: a genetic update. | journal=Exp Hematol Oncol | year= 2014 | volume= 3 | issue= | pages= 16 | pmid=24949228 | doi=10.1186/2162-3619-3-16 | pmc=4063430 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24949228 }} </ref> | |||
==Biopsy== | ==Biopsy== | ||
A [[biopsy]] is the only sure way to know whether leukemia cells are in the bone marrow | *A [[biopsy]] is the only sure way to know whether leukemia cells are in the [[bone marrow]] | ||
*Before the sample is taken, [[local anesthesia]] is used to numb the area. This helps reduce the [[pain]]. | |||
A bone marrow biopsy and aspirate are routinely performed even in T-cell acute lymphoblastic leukemia to determine the extent of marrow involvement | *[[Bone marrow]] from the hipbone or another large bone is taken as [[biopsy]].<ref>[http://www.accessmedicine.com/content.aspx?aID=65842 Harrison's Principles of Internal Medicine, 16th EditioN,] Chapter 97. Malignancies of Lymphoid Cells. Clinical Features, Treatment, and Prognosis of Specific Lymphoid Malignancies.</ref> | ||
*On [[biopsy]] the following is seen:<ref name="pmid10889907">{{cite journal| author=Kröber SM, Greschniok A, Kaiserling E, Horny HP| title=Acute lymphoblastic leukaemia: correlation between morphological/immunohistochemical and molecular biological findings in bone marrow biopsy specimens. | journal=Mol Pathol | year= 2000 | volume= 53 | issue= 2 | pages= 83-7 | pmid=10889907 | doi= | pmc=1186910 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10889907 }} </ref> | |||
**High number of [[lymphoblast]] | |||
**Hypercellular [[Bone marrow|marrow]] with subtotal depletion of [[Adipose tissue|fat cells]]<ref name="pmid10889907">{{cite journal| author=Kröber SM, Greschniok A, Kaiserling E, Horny HP| title=Acute lymphoblastic leukaemia: correlation between morphological/immunohistochemical and molecular biological findings in bone marrow biopsy specimens. | journal=Mol Pathol | year= 2000 | volume= 53 | issue= 2 | pages= 83-7 | pmid=10889907 | doi= | pmc=1186910 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10889907 }} </ref> | |||
**Normal [[blood]] [[cell]] precursors | |||
*A [[bone marrow biopsy]] and aspirate are routinely performed even in [[T-cell]] acute lymphoblastic leukemia to determine the extent of [[marrow]] involvement | |||
*[[Malignancy|Malignant cells]] should be sent for conventional [[Cytogenetics|cytogenetic]] studies, as detection of the [[Philadelphia chromosome|Ph1 t(9;22)]], [[myc]] [[gene]] rearrangements (in [[Burkitt's lymphoma|Burkitt]]), and ''[[MLL (gene)|MLL]]'' [[gene]] rearrangements add important [[Prognosis|prognostic]] information<ref name="ALL">{{cite web | title = National Cancer Institute| url =http://www.cancer.gov/types/leukemia/hp/adult-all-treatment-pdq#link/_44_toc }}</ref> | |||
==Flow cytometry== | ==Flow cytometry== | ||
[[Flow cytometry]] should be performed to characterize expression of lineage-defining antigens and allow determination of the specific acute lymphoblastic leukemia subtype.<ref | *[[Flow cytometry]] should be performed to characterize expression of lineage-defining antigens and allow determination of the specific acute lymphoblastic leukemia subtype.<ref>{{cite web | title = National Cancer Institute| url =http://www.cancer.gov/types/leukemia/hp/adult-all-treatment-pdq#link/_44_toc }}</ref><ref name="pmid25408859">{{cite journal| author=Chiaretti S, Zini G, Bassan R| title=Diagnosis and subclassification of acute lymphoblastic leukemia. | journal=Mediterr J Hematol Infect Dis | year= 2014 | volume= 6 | issue= 1 | pages= e2014073 | pmid=25408859 | doi=10.4084/MJHID.2014.073 | pmc=4235437 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25408859 }} </ref> | ||
**[[CD19]] | |||
**[[CD20]] | |||
**[[CD22]] | |||
**[[CD24]] | |||
**[[CD79a]] | |||
==RT-PCR and FISH== | ==RT-PCR and FISH== | ||
*In addition, for B-cell disease the malignant cells should be analyzed using RT-PCR and FISH for evidence of the bcr-abl fusion gene. This last point is of utmost importance, as timely diagnosis of Ph1 acute lymphoblastic leukemia will significantly change the therapeutic approach.<ref name=ALL>{{cite web | title = National Cancer Institute| url =http://www.cancer.gov/types/leukemia/hp/adult-all-treatment-pdq#link/_44_toc }}</ref> | *In addition, for [[B-cell]] disease, the [[malignant]] [[Cells (biology)|cells]] should be analyzed using [[Reverse transcription polymerase chain reaction|RT-PCR]] and [[Fluorescence in situ hybridization|FISH]] for evidence of the [[Philadelphia chromosome|bcr-abl]] fusion [[gene]]<ref name="pmid27537935">{{cite journal| author=Kamoda Y, Izumi K, Iioka F, Akasaka T, Nakamura F, Kishimori C et al.| title=Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia Is Separated into Two Subgroups Associated with Survival by BCR-ABL Fluorescence in situ Hybridization of Segmented Cell Nuclei: Report from a Single Institution. | journal=Acta Haematol | year= 2016 | volume= 136 | issue= 3 | pages= 157-66 | pmid=27537935 | doi=10.1159/000445972 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27537935 }} </ref> | ||
*This last point is of utmost importance, as timely diagnosis of [[Philadelphia chromosome|Ph1]] acute lymphoblastic leukemia will significantly change the therapeutic approach.<ref name="ALL">{{cite web | title = National Cancer Institute| url =http://www.cancer.gov/types/leukemia/hp/adult-all-treatment-pdq#link/_44_toc }}</ref> | |||
==References== | ==References== | ||
Latest revision as of 17:45, 10 April 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2] Carlos A Lopez, M.D. [3]
Overview
Other diagnostic studies for acute lymphoblastic leukemia include cytogenetics, bone marrow biopsy, flow cytometry, reverse transcriptase-polymerase chain reaction (RT-PCR) and flouroscence insitu hybridization (FISH).
Cytogenetics
- In Cytogenetics the following establishes whether the "blast" cells began from the B lymphocytes or T lymphocytes[1]
- DNA testing can establish how aggressive the disease is; different mutations have been associated with shorter or longer survival[3]
Biopsy
- A biopsy is the only sure way to know whether leukemia cells are in the bone marrow
- Before the sample is taken, local anesthesia is used to numb the area. This helps reduce the pain.
- Bone marrow from the hipbone or another large bone is taken as biopsy.[4]
- On biopsy the following is seen:[5]
- A bone marrow biopsy and aspirate are routinely performed even in T-cell acute lymphoblastic leukemia to determine the extent of marrow involvement
- Malignant cells should be sent for conventional cytogenetic studies, as detection of the Ph1 t(9;22), myc gene rearrangements (in Burkitt), and MLL gene rearrangements add important prognostic information[6]
Flow cytometry
- Flow cytometry should be performed to characterize expression of lineage-defining antigens and allow determination of the specific acute lymphoblastic leukemia subtype.[7][8]
RT-PCR and FISH
- In addition, for B-cell disease, the malignant cells should be analyzed using RT-PCR and FISH for evidence of the bcr-abl fusion gene[9]
- This last point is of utmost importance, as timely diagnosis of Ph1 acute lymphoblastic leukemia will significantly change the therapeutic approach.[6]
References
- ↑ Hakeem A, Shiekh AA, Bhat GM, Lone AR (2015). "Prognostification of ALL by Cytogenetics". Indian J Hematol Blood Transfus. 31 (3): 322–31. doi:10.1007/s12288-014-0483-0. PMC 4465518. PMID 26085716.
- ↑ Motlló C, Ribera JM, Morgades M, Granada I, Montesinos P, Mercadal S; et al. (2018). "Frequency and prognostic significance of additional cytogenetic abnormalities to the Philadelphia chromosome in young and older adults with acute lymphoblastic leukemia". Leuk Lymphoma. 59 (1): 146–154. doi:10.1080/10428194.2017.1326596. PMID 28554259.
- ↑ Woo JS, Alberti MO, Tirado CA (2014). "Childhood B-acute lymphoblastic leukemia: a genetic update". Exp Hematol Oncol. 3: 16. doi:10.1186/2162-3619-3-16. PMC 4063430. PMID 24949228.
- ↑ Harrison's Principles of Internal Medicine, 16th EditioN, Chapter 97. Malignancies of Lymphoid Cells. Clinical Features, Treatment, and Prognosis of Specific Lymphoid Malignancies.
- ↑ 5.0 5.1 Kröber SM, Greschniok A, Kaiserling E, Horny HP (2000). "Acute lymphoblastic leukaemia: correlation between morphological/immunohistochemical and molecular biological findings in bone marrow biopsy specimens". Mol Pathol. 53 (2): 83–7. PMC 1186910. PMID 10889907.
- ↑ 6.0 6.1 "National Cancer Institute".
- ↑ "National Cancer Institute".
- ↑ Chiaretti S, Zini G, Bassan R (2014). "Diagnosis and subclassification of acute lymphoblastic leukemia". Mediterr J Hematol Infect Dis. 6 (1): e2014073. doi:10.4084/MJHID.2014.073. PMC 4235437. PMID 25408859.
- ↑ Kamoda Y, Izumi K, Iioka F, Akasaka T, Nakamura F, Kishimori C; et al. (2016). "Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia Is Separated into Two Subgroups Associated with Survival by BCR-ABL Fluorescence in situ Hybridization of Segmented Cell Nuclei: Report from a Single Institution". Acta Haematol. 136 (3): 157–66. doi:10.1159/000445972. PMID 27537935.