HAEM5:Primary myelofibrosis: Difference between revisions
| [checked revision] | [checked revision] |
Bailey.Glen (talk | contribs) No edit summary |
Bailey.Glen (talk | contribs) No edit summary |
||
| Line 73: | Line 73: | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
As many as 30% of patients with PMF may be asymptomatic at the time of diagnosis, and are found by detection of splenomegaly, anemia, leukocytosis and/or thrombocytosis. More than 50% of patients experience constitutional symptoms. | As many as 30% of patients with PMF may be asymptomatic at the time of diagnosis, and are found by detection of splenomegaly, anemia, leukocytosis and/or thrombocytosis. More than 50% of patients experience constitutional symptoms. | ||
| Line 79: | Line 79: | ||
Leukemic transformation may occur in 4-20% of patients and is associated with a poor prognosis. | Leukemic transformation may occur in 4-20% of patients and is associated with a poor prognosis. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Sites of Involvement== | ==Sites of Involvement== | ||
| Line 130: | Line 133: | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
| Line 144: | Line 147: | ||
Balanced translocations are rare in PMF and few are recurrent. One recurrent unbalanced translocation has been described, der(6)t(1;6)(q21;p21) resulting in gain of 1q and loss of 6p [Dingli et al 2005; Djordjevic et al., 2007]. | Balanced translocations are rare in PMF and few are recurrent. One recurrent unbalanced translocation has been described, der(6)t(1;6)(q21;p21) resulting in gain of 1q and loss of 6p [Dingli et al 2005; Djordjevic et al., 2007]. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
| Line 151: | Line 157: | ||
* Individual Region Genomic Gain/Loss/LOH | * Individual Region Genomic Gain/Loss/LOH | ||
* Characteristic Chromosomal Patterns | * Characteristic Chromosomal Patterns | ||
* Gene Mutations (SNV/INDEL)}} | * Gene Mutations (SNV/INDEL)}}</blockquote> | ||
Since the mutations and chromosome aberrations detected in PMF can also be found in other MPN, genetic findings alone cannot be used to make the diagnosis of PMF. | Since the mutations and chromosome aberrations detected in PMF can also be found in other MPN, genetic findings alone cannot be used to make the diagnosis of PMF. | ||
| Line 167: | Line 173: | ||
In terms of therapeutic options, the preferred option for high risk patients is allogenic stem cell transplant, while low risk patients may be followed with observation only. For intermediate risk patients, treatments including ''JAK2'' inhibitors may be used [Tefferi et al 2018d]. | In terms of therapeutic options, the preferred option for high risk patients is allogenic stem cell transplant, while low risk patients may be followed with observation only. For intermediate risk patients, treatments including ''JAK2'' inhibitors may be used [Tefferi et al 2018d]. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain / Loss / LOH== | ||
| Line 215: | Line 224: | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
Put your text here and/or fill in the table | Put your text here and/or fill in the table | ||
| Line 228: | Line 237: | ||
|} | |} | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
| Line 252: | Line 264: | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
Approximately 30-42.6% of PMF cases show cytogenetic abnormalities, with more advanced cases showing increasing frequency of abnormalities. The most common are del(20q) (19-33%) and del(13q) (14-23%), with additional abnormalities including trisomy 8 (8-16%), trisomy 9 (3-14%), and abnormalities of chromosome 1 (6-28%). | Approximately 30-42.6% of PMF cases show cytogenetic abnormalities, with more advanced cases showing increasing frequency of abnormalities. The most common are del(20q) (19-33%) and del(13q) (14-23%), with additional abnormalities including trisomy 8 (8-16%), trisomy 9 (3-14%), and abnormalities of chromosome 1 (6-28%). | ||
| Line 258: | Line 270: | ||
Disease progression is associated with additional abnormalities, including gain of 1q (3-19%), del(5q) (3-6%), chromosome 7 abnormalities (5-10%), del(17p) and in rare cases i(17q) [Ref: Vandenberghe and Michaux, 2015 in Cancer Cytogenetics (Eds: Heim and Mitelman); see also Wassie et al 2015]. | Disease progression is associated with additional abnormalities, including gain of 1q (3-19%), del(5q) (3-6%), chromosome 7 abnormalities (5-10%), del(17p) and in rare cases i(17q) [Ref: Vandenberghe and Michaux, 2015 in Cancer Cytogenetics (Eds: Heim and Mitelman); see also Wassie et al 2015]. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV / INDEL)== | ||
| Line 316: | Line 331: | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
''JAK2'' mutations result in constitutive activation of ''JAK2'' signalling. ''CALR'' and ''MPL'' mutations also result in activation of the same pathway. | ''JAK2'' mutations result in constitutive activation of ''JAK2'' signalling. ''CALR'' and ''MPL'' mutations also result in activation of the same pathway. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||