Contributions
Abstract: PB2320
Type: Publication Only
Background
At our outpatient we recorded 5 cases of young patients (tweens or tweens) who had remarkably high hemoglobin levels (175-200 g/l range) and had mutation of Jak2, Jak exon 12,mpl W 515. None of them were heavy smoker. Their erythropoietin levels were in the lower normal range.
their erythrocytosis was isolated, no splenomegaly, minimal skin signs were detected. Interestingly a strong familiarity documented high heaemoglobin levels in young relatives were also detected along more frequent other oncological disorders.
Aims
Our aims were:
1. To find aetiologic factors for this unusually early polycthaemia syndroma, familiarity and oncologiaval associations.
2. try to characterise clinically this unusual cases and the clinical course
3. try to establish therapy and followup for this peculiar clinical settings
Methods
Considering oilycytheaemia, familiarity and oncogical disease associated cases we performed von Hippel Lindau gene (VHL) sequenations form tha plasmna of patients of some of first degree relatives
•VHL sequenations were performed PCR amplification of VHL gene coding regions Intron sequences followed by direct fluorescent sequenation. This work had been performed by Dr Istvan Balogh, University Lab. Medicine institute, his work is kindly acknowledged None of the samples so far sequenced revealed any of the true, classical VHL gene mutation, but a polymorphism of the intron (IVS1-195-nt) before the 1st exon: namely rs779805 G>A, similar to what had been described in chinese population without blood count abnormalities (RCC, prostatic ,large bowel cancer association
Results
In all proband cases, and 1st degree relatives we have found the same VHL gene single nucleotide polymorphism in homozygous or heterozagous form, namely rs779805 G>A.
We were able to document high isolated hemoglobin levels in parents, siblings, nephiew, grandson, etc.
Some of them had clear renal cell cancer (which also aoccurs in true VHL syndrome), melanoma, large bowel cancer, benign osteoclastomoa, Hodgkin.
Leukocytosis, high platelet counts were not observed. Splenomegaly or skin signs were mild or absent. Due to the short observation period we did not find vascular complications, or MPN type transformations. Our treatment was cautious phlebotomy.
Conclusion
A Chinese survey clearly documented that rs779805 G>A, VHL gene single nucleotide polymorphism can be morre frequently associared with renal,large bowel, or skin cancer. They found this polymorphism much less in caucasians. none of these surves mention polycythemia or any other haematological abnormalities.
So our findings might be considered as new ones. We do suggest to perform VHL sequenation in young peorple with otherwise unexplained polycythemia, especially with familiarity.
We are going to open avenues cooperative efforts, how to proceed clinically with this cohort of oatients, and perform in depth genetical background analysis.
Session topic: 16. Myeloproliferative neoplasms - Clinical
Keyword(s): Polycythemia vera, Polymorphism
Abstract: PB2320
Type: Publication Only
Background
At our outpatient we recorded 5 cases of young patients (tweens or tweens) who had remarkably high hemoglobin levels (175-200 g/l range) and had mutation of Jak2, Jak exon 12,mpl W 515. None of them were heavy smoker. Their erythropoietin levels were in the lower normal range.
their erythrocytosis was isolated, no splenomegaly, minimal skin signs were detected. Interestingly a strong familiarity documented high heaemoglobin levels in young relatives were also detected along more frequent other oncological disorders.
Aims
Our aims were:
1. To find aetiologic factors for this unusually early polycthaemia syndroma, familiarity and oncologiaval associations.
2. try to characterise clinically this unusual cases and the clinical course
3. try to establish therapy and followup for this peculiar clinical settings
Methods
Considering oilycytheaemia, familiarity and oncogical disease associated cases we performed von Hippel Lindau gene (VHL) sequenations form tha plasmna of patients of some of first degree relatives
•VHL sequenations were performed PCR amplification of VHL gene coding regions Intron sequences followed by direct fluorescent sequenation. This work had been performed by Dr Istvan Balogh, University Lab. Medicine institute, his work is kindly acknowledged None of the samples so far sequenced revealed any of the true, classical VHL gene mutation, but a polymorphism of the intron (IVS1-195-nt) before the 1st exon: namely rs779805 G>A, similar to what had been described in chinese population without blood count abnormalities (RCC, prostatic ,large bowel cancer association
Results
In all proband cases, and 1st degree relatives we have found the same VHL gene single nucleotide polymorphism in homozygous or heterozagous form, namely rs779805 G>A.
We were able to document high isolated hemoglobin levels in parents, siblings, nephiew, grandson, etc.
Some of them had clear renal cell cancer (which also aoccurs in true VHL syndrome), melanoma, large bowel cancer, benign osteoclastomoa, Hodgkin.
Leukocytosis, high platelet counts were not observed. Splenomegaly or skin signs were mild or absent. Due to the short observation period we did not find vascular complications, or MPN type transformations. Our treatment was cautious phlebotomy.
Conclusion
A Chinese survey clearly documented that rs779805 G>A, VHL gene single nucleotide polymorphism can be morre frequently associared with renal,large bowel, or skin cancer. They found this polymorphism much less in caucasians. none of these surves mention polycythemia or any other haematological abnormalities.
So our findings might be considered as new ones. We do suggest to perform VHL sequenation in young peorple with otherwise unexplained polycythemia, especially with familiarity.
We are going to open avenues cooperative efforts, how to proceed clinically with this cohort of oatients, and perform in depth genetical background analysis.
Session topic: 16. Myeloproliferative neoplasms - Clinical
Keyword(s): Polycythemia vera, Polymorphism