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Atypical haematological presentation in a case of polycythaemia vera with a new variant mutation detected in exon 12: c.1605G>T (p.Met535Ile)
  1. Amélia Soraia Andrade Pita1,
  2. Ana Paula da Silva Azevedo2,3,4,
  3. Alice Reichert5,
  4. Cândido José Pimenta da Silva2,
  5. Vanessa Henriques6,
  6. Diana Sousa Mendes1,
  7. Ana Maria Batalha Reis2,
  8. Rita Cerqueira7,
  9. Fátima Torres7,
  10. João Faro Viana2
  1. 1 Department of Transfusional Medicine, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal
  2. 2 Department of Clinical Pathology, Centro Hospitalar de Lisboa Ocidental, Lisboa, Lisboa, Portugal
  3. 3 Centre for Toxicogenomics and Human Health Genetics, Oncology and Human Toxicology, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisboa, Portugal
  4. 4 Instituto Superior de Ciências da Saúde Egas Moniz, Monte de Caparica, Portugal
  5. 5 Department of Haematology, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal
  6. 6 Department of Pathology, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal
  7. 7 CGC Genetics, Porto, Portugal
  1. Correspondence to Dr Amélia Soraia Andrade Pita, Department of Transfusional Medicine, Centro Hospitalar de Lisboa Ocidental, Estrada Forte do Alto Duque, 1449-005 Lisboa, Portugal; amelia.andrade.pita{at}


One of the major genetic insights into the pathogenesis of polycythaemia vera included the identification of the somatic point gain-of-function mutations in Janus kinase 2 gene—first JAK2V617F on exon 14, present in 95%–97% of the cases, and later on exon 12. In the literature, we can find some reported studies where different exon 12 mutations are identified. Unlike patients with JAK2V617F mutation in exon 14, the mutation at exon 12 is not usually associated with an increase in the three haematopoietic series (erythrocytosis, leucocytosis and thrombocytosis). It appears to be associated with a distinct syndrome, mostly characterised by isolated and more marked erythrocytosis, independently of the mutational variant. We report here the case of a patient who is JAK2exon 12 positive, presenting a novel mutation—c.1605G>T (p.Met535Ile)—associated with c.1612C>T (p.His538Tyr) mutation previously described, evidencing an atypical clinical phenotype.

  • myeloproliferative disease
  • cancer genetics
  • diagnostics haemato-oncology
  • molecular genetics

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  • ASAP and APSA contributed equally.

  • Handling editor Mary Frances McMullin.

  • Contributors ASAP, APdSA: both authors contributed equally to the writing of the manuscript. AR: followed the patient and revised the manuscript. CJPdS, VH, DSM, AMBR, RC, FT, JFV: performed laboratorial analysis and revised the manuscript.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval Centro Hospitalar de Lisboa Ocidental ethics board.

  • Provenance and peer review Not commissioned; externally peer reviewed.