A New Polycythemia Syndrome: Congenital Polycythemia with High Erythropoietin and Propensity for Malignant Hypertension Due to Paraganglioma.
Bibliographic record
Abstract
Abstract We report three patients, two females and one male, with congenital polycythemia and high erythropoietin. All were extensively investigated in childhood; no known polycythemic conditions were diagnosed nor were any tumors known to be associated with polycythemia uncovered. At the ages of 14, 16, and 32 years the patients developed malignant hypertension secondary to multiple paragangliomas. In addition, one of patients has also developed a malignant pancreatic carcinoid tumor that expressed somatostatin. After the surgical resection of paragangliomas, hypertension subsided, but polycythemia persisted in all three subjects. Comprehensive screening for germ-line mutations of von Hippel-Lindau (VHL) gene as well as genes known to be causing familial paragangliomas - catalytic succinate dehydrogenase subunits B (SDHB), and catalytic succinate dehydrogenase subunit D (SDHD), has not revealed any mutations. In one of these patients studied so far there was no abnormality of the any of the three hypoxia control associated proline hydroxylase genes expressions found. Unlike the erythroid progenitors of Chuvash Polycythemia, these patients had normal sensitivity of erythroid progenitors to erythropoietin. The search for somatic mutations of VHL, SDHB, and SDHD genes, as well as quantitative analysis of the expressions of hypoxia inducible factor 1 alpha subunit (HIF-1a), vascular endothelial growth factor (VEGF), VHL, SDHB, and SDHD mRNAs by real-time PCR is ongoing. In summary, we report a new polycythemic syndrome of congenital polycythemia with high erythropoietin and the normal sensitivity of erythroid progenitors to erythropoietin, which is not associated with VHL mutation. This is in contrast to our previous experience with about 200 patients, homozygous for Chuvash Polycythemia mutation or compound heterozygous for Chuvash Polycythemia R200W and other VHL mutations, who have not developed paraganglioma or any VHL syndrome tumors. This new polycythemic syndrome shares some clinical features with both von Hippel Lindau syndrome and with the Chuvash polycythemia. While its molecular defect is yet to be elucidated, it is a distinct clinical and genetic entity.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".