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Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation
Open accessAbstract
investigated for BCR-ABL transcripts with 2 different polymerase chain reaction (PCR) methods as previously described in detail.1,2 Forty-six (1.8%) cases showed an ambiguous result and were not considered for further analysis.Of the remaining 2498 cases, 904 (36.2%) were BCR-ABL ϩ (599 ϭ 24% minor breakpoint region [m-bcr] and 282 ϭ 11.3% major breakpoint region [M-bcr], 15 ϭ 0.6% both, M-bcr and m-bcr, and 8 atypical transcripts), and 1594 were BCR-ABL Ϫ .Atypical transcripts were not systematically detected before 2000 1 and thus had to be excluded from further analysis.We grouped patients into age cohorts at 10-year intervals according to their age at diagnosis, each comprising between 277 and 481 patients and found a remarkable increase of BCR-ABL frequency in adolescents and young adults (Figure 1).It increased from 12.7% in adolescents (15-24 years) to 30.6% and 43.7% in patients aged 25 to 34 and 35 to 44 years, respectively.In patients older than 44 years, the BCR-ABL frequency showed no further increment and ranged between 42% and 44%.The increase of BCR-ABL frequency was paralleled by a relative increase of M-bcr transcripts.These transcripts accounted for 16.4% of all BCR-ABL-positive cases in adolescents (15-24 years).Their relative frequency increased to 22.5% in 25-to 34-year-olds and to 36.8% in 35-to 44-year-olds and remained between 33% and 36.2% from then on.The reason for this age dependency is not obvious.The relative frequencies of immunologic subtypes (78.2% common, 19.9% pre-B, 1.9% pro-B) of BCR-ABL ϩ patients did not differ significantly across the age groups.Moreover, the frequency of BCR-ABL was also not significantly different in woman compared with men.Our study excluded lymphatic blast crises in patients with known chronic myeloid leukemia (CML).Previous work has indicated that M-bcr-and m-bcr-positive ALL may arise from different sets of hematopoietic progenitor cells, 3 but this does not explain the age dependency.A number of genetic markers in ALL show a marked age dependency (reviewed in Armstrong and Look 4 ), eg, TEL-AML1, TLX1, and TLX3, MLL aberrations (especially in infant ALL).Our data provide additional information on the biology of BCR-ABL-positive ALL and substantiate evidence of age-dependent variation in the genetic background of ALL.
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“Most gain-of-function mutations in HIF-2α are in direct proximity to proline residue 531, which is one of the two main hydroxylation sites (the other major hydroxylation site is proline 405). 147–154”
From Regulation of erythropoiesis by hypoxia-inducible factors (2013) · cites this paper as [149]
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Widespread, hypoxia‐inducible expression of HIF‐2α in distinct cell populations of different organs
Wiesener, M. S., Jürgensen, J. S., Rosenberger, C., Scholze, C. K., Hörstrup, J. H., Warnecke, C., Mandriota, S. J., Bechmann, I., Frei, U. A., Pugh, C. W., et al. (2002) · The FASEB Journal · doi:10.1096/fj.02-0445fje · Cited by 770
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
Ang, S. O., Chen, H., Hirota, K., Gordeuk, V. R., Jelinek, J., Guan, Y., Liu, E., Sergueeva, A. I., Miasnikova, G. Y., Mole, D., et al. (2002) · Nature Genetics · doi:10.1038/ng1019 · Cited by 510
Self-citationWarnecke, C., Zaborowska, Z., Kurreck, J., Erdmann, V. A., Frei, U. A., Wiesener, M. S., & Eckardt, K. (2004) · The FASEB Journal · doi:10.1096/fj.04-1640fje · Cited by 406
Percy, M. J., Zhao, Q., Flores, A., Harrison, C., Lappin, T. R. J., Maxwell, P. H., McMullin, M. F., & Lee, F. S. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0508423103 · Cited by 330
Self-citationBrusselmans, K., Compernolle, V., Tjwa, M., Wiesener, M. S., Maxwell, P. H., Collen, D., & Carmeliet, P. (2003) · Journal of Clinical Investigation · doi:10.1172/jci15496 · Cited by 315
A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis
Percy, M. J., Furlow, P. W., Lucas, G. S., Li, X., Lappin, T. R. J., McMullin, M. F., & Lee, F. S. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa073123 · Cited by 314
Mutation of von Hippel–Lindau Tumour Suppressor and Human Cardiopulmonary Physiology
Smith, T. G., Brooks, J. T., Balanos, G. M., Lappin, T. R., Layton, D. M., Leedham, D. L., Liu, C., Maxwell, P. H., McMullin, M. F., McNamara, C. J., et al. (2006) · PLoS Medicine · doi:10.1371/journal.pmed.0030290 · Cited by 182
Hickey, M. M., Lam, J. C., Bezman, N. A., Rathmell, W. K., & Simon, M. C. (2007) · Journal of Clinical Investigation · doi:10.1172/jci32614 · Cited by 110
Bushuev, V. I., Miasnikova, G., Sergueeva, A., Polyakova, L. A., Okhotin, D. J., Gaskin, P. R. A., Debebe, Z., Nekhai, S. A., Castro, O. L., Prchal, J. T., et al. (2006) · PubMed · Cited by 76
Howarth, C., Chanarin, I., Janowska‐Wieczorek, A., & Napier, J. A. F. (1979) · Scandinavian Journal of Haematology · doi:10.1111/j.1600-0609.1979.tb02694.x · Cited by 6
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Beall, C. M., Cavalleri, G. L., Deng, L., Elston, R. C., Gao, Y., Knight, J., Li, C., Li, J. C., Liang, Y., McCormack, M., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1002443107 · Cited by 845
Regulation of erythropoiesis by hypoxia-inducible factors
Haase, V. H. (2013) · Blood Reviews · doi:10.1016/j.blre.2012.12.003 · Cited by 787
Hypoxia-inducible factors: cancer progression and clinical translation
Wicks, E. E., & Semenza, G. L. (2022) · Journal of Clinical Investigation · doi:10.1172/jci159839 · Cited by 626
Warren, H. R., Εvangelou, Ε., Cabrera, C. P., Gao, H., Ren, M., Mifsud, B., Ntalla, I., Surendran, P., Liu, C., Cook, J. P., et al. (2017) · Nature Genetics · doi:10.1038/ng.3768 · Cited by 559
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Metadata
- Authors
- Gale, D. P., Harten, S. K., Reid, C. D. L., Tuddenham, E. G. D., & Maxwell, P. H.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2008-08-01
- Volume
- 112
- Issue
- 3
- Pages
- 919-921
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2074813003
- Cited by
- 157
- References
- 11
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 6 · 2023: 13 · 2022: 4 · 2021: 15 · 2020: 6 · 2019: 11 · 2018: 11 · 2017: 10 · 2016: 19 · 2015: 10 · 2014: 9 · 2013: 10 · 2012: 4
- FWCI
- 4.98
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Blood (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- National Institute for Health and Care Research (NF-SI-0507-10315)
- British Heart Foundation
- Topics
- Health Sciences › Medicine › Hematology › Erythropoietin and Anemia Treatment
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Pulmonary Hypertension Research and Treatments
- Health Sciences › Medicine › Hematology › Myeloproliferative Neoplasms: Diagnosis and Treatment
- Keywords
- pulmonary arterial hypertension, erythropoietin, hypoxia-inducible factor, VHL, erythrocytosis
- MeSH terms
- Endothelial PAS Domain-Containing Protein 1, Adolescent, Adult, Aged, Humans, Hypertension, Pulmonary, Middle Aged, Mutation, Polycythemia, Basic Helix-Loop-Helix Proteins
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