HAEM5:T-prolymphocytic leukaemia: Difference between revisions
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|inv(14)(q11.2q32.1) | |inv(14)(q11.2q32.1) | ||
t(14;14)(q11.2;q32.1) | t(14;14)(q11.2;q32.1) | ||
|TCL1A/TRD|| ||inv(14) ~60% | |TCL1A/B ,TRD|| ||inv(14) ~60% | ||
t(14;14) ~25% | t(14;14) ~25% | ||
|Yes | |Yes | ||
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|- | |- | ||
|t(X;14)(q28;q11.2) | |t(X;14)(q28;q11.2) | ||
|MTCP1 | |MTCP1, TRD | ||
| | | | ||
|Low (5%) | |Low (5%) | ||
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|} | |} | ||
==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain / Loss / LOH== | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
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|- | |- | ||
|5 | |5 | ||
|Gain/Loss | |||
|5p | |||
|chr5 | |||
|Yes | |||
| | | | ||
| | | | ||
| | |Minor diagnostic criteria | ||
|- | |- | ||
|6 | |6 | ||
| | |Gain/Loss | ||
| | |6p | ||
| | |chr6 | ||
| | |No | ||
| | | | ||
| | | | ||
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|11 | |11 | ||
|Loss | |Loss | ||
| | |11q | ||
|ch11q21-q23 | |ch11q21-q23.3 | ||
|Yes | |Yes | ||
|Yes | |Yes | ||
| Line 154: | Line 153: | ||
|12 | |12 | ||
|Loss | |Loss | ||
|12p | |||
|12p13 | |12p13 | ||
| | |Yes | ||
| | | | ||
| | | | ||
|Minor diagnostic criteria | |||
|- | |- | ||
|13 | |13 | ||
| | |Loss | ||
|13q | |||
|13q14.3 | |13q14.3 | ||
|Yes | |||
| | | | ||
| | | | ||
| | |Minor diagnostic criteria | ||
|- | |- | ||
|14 | |14 | ||
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|17 | |17 | ||
| | | | ||
| | |17p, 17q | ||
| | | | ||
| | | | ||
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|Loss | |Loss | ||
|Monosomy 22 | |Monosomy 22 | ||
22q | |||
| | | | ||
| | | | ||
| | | | ||
| | | | ||
| | |Minor diagnostic criteria | ||
|} | |} | ||
==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. | |||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
| Line 224: | Line 224: | ||
!Notes | !Notes | ||
|- | |- | ||
| | |ATM | ||
<span class="blue-text">EXAMPLE:</span> | |TSG | ||
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC) | |||
<span class="blue-text">EXAMPLE:</span> 30% (add Reference) | <span class="blue-text">EXAMPLE:</span> 30% (add Reference) | ||
|ATM mutations | |ATM mutations | ||
|None specified | |None specified | ||
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|The mutations within this pathway typically occur in a mutually exclusive manner (Dr jaffe book) | |The mutations within this pathway typically occur in a mutually exclusive manner (Dr jaffe book) | ||
|- | |- | ||
|TP53 | |''TP53'' | ||
|TSG | |||
| | | | ||
| | |||
| | |||
| | |||
| | |||
| | |||
| | |||
|- | |||
|''BCOR'' | |||
|TSG | |||
| | | | ||
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | ||
|- | |- | ||
|''TCL1A rearrangement'' | |''TCL1A/B rearrangement'' | ||
|''AKT'' signaling and TCR signal amplification pathways | |''AKT'' signaling and TCR signal amplification pathways | ||
|Increased cell survival and proliferation | |Increased cell survival and proliferation | ||