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==Overview==
==Overview==
Other diagnostic studies for acute lymphoblastic leukemia include [[cytogenetics]], bone marrow [[biopsy]], [[flow cytometry]], [[RT-PCR]] and [[FISH]].
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]] (particularly the presence of [[Philadelphia chromosome]]) and [[immunophenotyping]], establish whether the "blast" cells began from the [[B lymphocyte]]s or [[T lymphocyte]]s. DNA testing can establish how aggressive the disease is; different mutations have been associated with shorter or longer survival.
*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. Before the sample is taken, local anesthesia is used to numb the area. This helps reduce the pain. Bone marrow from your 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>
*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. Malignant cells should be sent for conventional cytogenetic studies, as detection of the Ph1 t(9;22), myc gene rearrangements (in Burkitt leukemia), and Myeloid lymphocytic leukemia gene rearrangements add important 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>
*[[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 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]] 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

Biopsy

Flow cytometry

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

  1. 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.
  2. 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.
  3. 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.
  4. Harrison's Principles of Internal Medicine, 16th EditioN, Chapter 97. Malignancies of Lymphoid Cells. Clinical Features, Treatment, and Prognosis of Specific Lymphoid Malignancies.
  5. 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. 6.0 6.1 "National Cancer Institute".
  7. "National Cancer Institute".
  8. 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.
  9. 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.

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