Compendium of Cancer Genome Aberrations

HAEM5:T-prolymphocytic leukaemia: Difference between revisions

[unchecked revision][unchecked revision]
← Older editNewer edit →
VisualWikitext
No edit summary
No edit summary
Line 41: Line 41:
|B symptoms (Fever, night sweats, weight loss)
|B symptoms (Fever, night sweats, weight loss)
Hepatosplenomegaly (Frequently observed)
Hepatosplenomegaly (Frequently observed)
Generalized lymphadenopathy with slightly enlarged lymph nodes (Frequently observed
Generalized lymphadenopathy with slightly enlarged lymph nodes (Frequently observed


Line 57: Line 58:
|}
|}
==Sites of Involvement==
==Sites of Involvement==
Peripheral blood, bone marrow, spleen, liver, lymph node, and sometimes skin and serosa. Extra lymphatic and extramedullary atypical manifestations including skin, muscles and intestines are particularly common in relapse.
Peripheral blood, bone marrow, spleen (mostly red pulp), liver, lymph node (mostly paracortical), and sometimes skin and serosa (primarily pleura). Extra lymphatic and extramedullary atypical manifestations including skin, muscles and intestines are particularly common in relapse.
==Morphologic Features==
==Morphologic Features==
Blood smears in T-PLL typically reveal anemia, thrombocytopenia, and leukocytosis, with atypical lymphocytes in three morphological forms. The most common form (75% of cases) features medium-sized cells with a high nuclear-to-cytoplasmic ratio, moderately condensed chromatin, a single visible nucleolus, and slightly basophilic cytoplasm with characteristic cytoplasmic blebs. In 20% of cases, the cells appear as a small cell variant with densely condensed chromatin and an inconspicuous nucleolus. About 5% of cases exhibit a cerebriform variant with irregular nuclei resembling those in mycosis fungoides.<ref>{{Cite journal|last=Eichhorn|first=G. L.|date=1979-02|title=Aging, genetics, and the environment: potential of errors introduced into genetic information transfer by metal ions|url=https://pubmed.ncbi.nlm.nih.gov/374897|journal=Mechanisms of Ageing and Development|volume=9|issue=3-4|pages=291–301|doi=10.1016/0047-6374(79)90106-4|issn=0047-6374|pmid=374897}}</ref> Bone marrow aspirates show clusters of these neoplastic cells, with a mixed pattern of involvement including diffuse and interstitial, in trephine core biopsy.
Blood smears in T-PLL typically reveal anemia, thrombocytopenia, and leukocytosis, with atypical lymphocytes in three morphological forms. The most common form (75% of cases) features medium-sized cells with a high nuclear-to-cytoplasmic ratio, moderately condensed chromatin, a single visible nucleolus, and slightly basophilic cytoplasm. In 20% of cases, the cells appear as a small cell variant with densely condensed chromatin and an inconspicuous nucleolus. About 5% of cases exhibit a cerebriform variant with irregular nuclei resembling those in mycosis fungoides. Regardless of the nuclear features, a common morphological characteristic is the presence of cytoplasmic protrusions or blebs.<ref>{{Cite journal|last=Eichhorn|first=G. L.|date=1979-02|title=Aging, genetics, and the environment: potential of errors introduced into genetic information transfer by metal ions|url=https://pubmed.ncbi.nlm.nih.gov/374897|journal=Mechanisms of Ageing and Development|volume=9|issue=3-4|pages=291–301|doi=10.1016/0047-6374(79)90106-4|issn=0047-6374|pmid=374897}}</ref> Bone marrow aspirates show clusters of these neoplastic cells, with a mixed pattern of involvement including diffuse and interstitial, in trephine core biopsy.
==Immunophenotype==
==Immunophenotype==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
T-cell prolymphocytes show strong staining with alpha-naphthyl acetate esterase and acid phosphatase, presenting a distinctive dot-like pattern, but cytochemistry is not commonly used for diagnosis.  
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Finding!!Marker
!Finding!!Marker
|-
|-
|Positive (universal)||cyTCL1(highest specificity), CD2, CD3 (may be weak), CD5, CD7 (strong), TCR-α/β
|Positive (universal)||TCL1 (highest specificity), CD2, CD3 (may be weak), CD5, CD7 (strong), TCR-α/β, S100 (30% of cases)
|-
|-
|Positive (subset)||CD4 (in some cases CD4+/CD8+ or CD4-/CD8+), CD52, activation markers are variable (CD25, CD38, CD43, CD26, CD27)
|Positive (subset)||CD4 (in some cases CD4+/CD8+ or CD4-/CD8+), CD52 (therapeutic target), activation markers are variable (CD25, CD38, CD43, CD26, CD27)
|-
|-
|Negative (universal)||TdT, CD1a, CD57, CD16
|Negative (universal)||TdT, CD1a, CD57, CD16
Line 103: Line 104:
|}
|}
==Individual Region Genomic Gain / Loss / LOH==
==Individual Region Genomic Gain / Loss / LOH==
Approximately 70-80% of T-PLL karyotypes are complex, which is considered minor diagnostic criteria, and usually include 3-5 or more structural aberrations. Common cytogenetic abnormalities include those of chromosome 8, such as idic(8)(p11.2), t(8;8)(p11.2;q12), and trisomy 8q. Other frequent changes are deletions in 12p13 and 22q, gains in 8q24 (MYC), and abnormalities in chromosomes 5p, 6, and 17.
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
Line 113: Line 115:
|8
|8
|Gain
|Gain
|idic(8)
t(8;8)(p11;q12)
trisomy 8q<br />8q24 (''MYC'')
|idic(8)(p11.2)
|idic(8)(p11.2)


Line 118: Line 125:


trisomy 8q<br />8q24 (''MYC'')
trisomy 8q<br />8q24 (''MYC'')
|
|Yes
|Yes
|No
|No
|No
|No
|Recurrent secondary finding <ref>{{Cite journal|last=Matutes|first=E.|last2=Brito-Babapulle|first2=V.|last3=Swansbury|first3=J.|last4=Ellis|first4=J.|last5=Morilla|first5=R.|last6=Dearden|first6=C.|last7=Sempere|first7=A.|last8=Catovsky|first8=D.|date=1991-12-15|title=Clinical and laboratory features of 78 cases of T-prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/1742486|journal=Blood|volume=78|issue=12|pages=3269–3274|issn=0006-4971|pmid=1742486}}</ref>
|Recurrent secondary finding (70-80% of cases). Minor diagnostic criteria. <ref>{{Cite journal|last=Staber|first=Philipp B.|last2=Herling|first2=Marco|last3=Bellido|first3=Mar|last4=Jacobsen|first4=Eric D.|last5=Davids|first5=Matthew S.|last6=Kadia|first6=Tapan Mahendra|last7=Shustov|first7=Andrei|last8=Tournilhac|first8=Olivier|last9=Bachy|first9=Emmanuel|date=2019-10-03|title=Consensus criteria for diagnosis, staging, and treatment response assessment of T-cell prolymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/31292114|journal=Blood|volume=134|issue=14|pages=1132–1143|doi=10.1182/blood.2019000402|issn=1528-0020|pmc=7042666|pmid=31292114}}</ref>  
|-
|-
|5
|5
|Gain/Loss
|Abnormality
|5p
|5p
|
|
Line 131: Line 137:
|
|
|
|
|Minor diagnostic criteria
|Minor diagnostic criteria
|-
|-
|6
|6
|Gain/Loss
|Abnormality
|6p
|6p
|
|
Line 149: Line 155:
|Yes
|Yes
|Yes
|Yes
|Frequent
|Frequent, Minor diagnostic criteria. 
|-
|-
|12
|12
Line 179: Line 185:
|-
|-
|17
|17
|
|Abnormality
|17p, 17q
|17p, 17q
|
|
Line 198: Line 204:
|}
|}
==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal Patterns==
Approximately, 70-80% of T-PLL karyotypes are complex, typically containing 3-5 or more structural aberrations. Common cytogenetic abnormalities include those of chromosome 8, such as idic(8)(p11.2), t(8;8)(p11.2;q12), and trisomy 8q. Other frequent changes are deletions in 12p13 and 22q, gains in 8q24 (MYC), and abnormalities in chromosomes 5p, 6, and 17.
<br />
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
Line 234: Line 240:
|Biallelic inactivation (missense mutations) of the ATM gene was demonstrated in virtually all sporadic cases of T-PLL (Dr. Jaffe book)
|Biallelic inactivation (missense mutations) of the ATM gene was demonstrated in virtually all sporadic cases of T-PLL (Dr. Jaffe book)
|-
|-
|''EZH2''
|''FBXW10''
|Oncogene, TSG
|TSG
|16% (COSMIC)
|72% (COSMIC)
|
|
|
|
Line 244: Line 250:
|
|
|-
|-
|''FBXW10''
|''IL2RG,'' ''JAK1, JAK3, STAT5B''
|TSG
|Oncogene
|72% (COSMIC)
|8% ''JAK1''
|
 
34% ''JAK3''
 
16% ''STAT5B''
 
2% ''IL2RG''
 
(COSMIC)
|
|
|
|
Line 253: Line 266:
|
|
|
|
|The cumulative prevalence of these mutations in T-PLL is approximately 60%. Typically, mutations within this pathway occur in a mutually exclusive manner. (Dr jaffe book)
|-
|-
|''CHEK2''
|''EZH2''
|TSG
|Oncogene, TSG
|5% (COSMIC)
|16% (COSMIC)
|
|
|
|
Line 264: Line 278:
|
|
|-
|-
|''IL2RG,'' ''JAK1, JAK3, STAT5B''
|''BCOR''
|Oncogene
|TSG
|JAK1 8.5%(COSMIC)
|8% (COSMIC)
 
|
JAK3 34%(COSMIC)
 
STAT5B 15.6%
 
(COSMIC)
 
IL2RG 2%
 
(COSMIC)
|
|
|
|
Line 282: Line 287:
|
|
|
|
|The mutations within this pathway typically occur in a mutually exclusive manner (Dr jaffe book)
|-
|-
|''TP53''
|''CHEK2''
|TSG
|TSG
|5% (COSMIC)
|
|
|
|
Line 292: Line 297:
|
|
|
|
|Rare
|-
|-
|''BCOR''
|''TP53''
|TSG
|TSG
|2% (COSMIC)
|
|
|
|
Line 301: Line 306:
|
|
|
|
|
|Rare
|
|}Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
|}Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
==Epigenomic Alterations==
==Epigenomic Alterations==
Line 329: Line 333:
|-
|-
|''IL2RG''
|''IL2RG''
|Cytokine signaling
|''JAK-STAT'' pathway, Cytokine signaling
|Promoting lymphocyte proliferation
|Promoting lymphocyte proliferation
|-
|-
Retrieved from "https://test.ccga.io/index.php/HAEM5:T-prolymphocytic_leukaemia"