HAEM5:T-prolymphocytic leukaemia: Difference between revisions
| [unchecked revision] | [unchecked revision] |
| Line 49: | Line 49: | ||
!Clinical Relevance Details/Other Notes | !Clinical Relevance Details/Other Notes | ||
|- | |- | ||
|inv(14)<br />||TCRα/δ and TCL1A||Pericentric inversion within chromosome 14, leading to '''j'''uxtaposition of the ''TCRα/δ'' enhancer to the ''TCL1A'' locus and aberrant overexpression of ''TCL1A''||inv(14)(q11.2q32.1) | |inv(14)<br />||TCRα/δ and TCL1A||Pericentric inversion within chromosome 14, leading to '''j'''uxtaposition of the ''TCRα/δ'' enhancer to the ''TCL1A'' locus and aberrant overexpression of ''TCL1A''||inv(14)(q11.2q32.1)* | ||
|Common ~60% | |Common ~60% | ||
| | |D | ||
| | |No | ||
|These genetic abnormalities serve as diagnostic markers and generally indicate an aggressive disease. Major diagnostic criteria.<ref name=":6" /> | |These genetic abnormalities serve as diagnostic markers and generally indicate an aggressive disease. Major diagnostic criteria.<ref name=":6" /> | ||
|- | |- | ||
| Line 58: | Line 58: | ||
|TCRα/δ and TCL1A | |TCRα/δ and TCL1A | ||
|''Reciprocal translocation between the two'' homologous chromosome 14s, leading to juxtaposition of the ''TCRα/δ'' enhancer to the ''TCL1A'' locus and aberrant overexpression of ''TCL1A'' | |''Reciprocal translocation between the two'' homologous chromosome 14s, leading to juxtaposition of the ''TCRα/δ'' enhancer to the ''TCL1A'' locus and aberrant overexpression of ''TCL1A'' | ||
|t(14;14)(q11.2;q32.1) | |t(14;14)(q11.2;q32.1)* | ||
|Recurrent ~20% | |Recurrent ~20-25% | ||
| | |D | ||
| | |No | ||
| | |*In most diagnostic/genetic reports (e.g., FISH or karyotype), the inversion and translocation may grouped together. Their distinction is mainly cytogenetic, not biological. | ||
|- | |- | ||
|t(X;14) | |t(X;14) | ||
| Line 71: | Line 69: | ||
|t(X;14)(q28;q11.2) | |t(X;14)(q28;q11.2) | ||
|Rare ~5% | |Rare ~5% | ||
| | |D | ||
| | |No | ||
|Major diagnostic criteria.<ref name=":6" /> | |Major diagnostic criteria.<ref name=":6" /> Rarely, t(X;7)(q28;q34) is observed, where the TCRβ enhancer (7q34) substitutes for TCRα/δ, leading to the same functional outcome | ||
|} | |} | ||
<br /> | <br /> | ||
==Individual Region Genomic Gain/Loss/LOH== | ==Individual Region Genomic Gain/Loss/LOH== | ||
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span> | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span> | ||