ISSN (print) 1997-6933     ISSN (online) 2500-2139
Vol. 17 No. 2 (2024), RARE HEMATOLOGICAL TUMORS AND SYNDROMES
Vol. 17 No. 2 (2024)
RARE HEMATOLOGICAL TUMORS AND SYNDROMES

Paroxysmal Nocturnal Hemoglobinuria and Primary Myelofibrosis as an Extremely Rare Combination of Clonal Hematological Diseases: A Literature Review and Two Clinical Case Reports

Published 01.04.2024
Anna Leonidovna Neverova
Moscow Municipal Center for Hematology, SP Botkin City Clinical Hospital, 5 korp. 17 2-i Botkinskii pr-d, Moscow, Russian Federation, 125284
PDF_2024-17-2_195-203 (Russian)

Keywords

paroxysmal nocturnal hemoglobinuria
immunophenotyping
flow cytometry
PNH-clone
PIGA mutation
chronic myeloproliferative neoplasms
myelofibrosis
polycythemia vera
essential thrombocythemia
JAK2V617F mutation
mutations in CALR and MPL genes
clinical practice

How to Cite

Neverova A.L. Paroxysmal Nocturnal Hemoglobinuria and Primary Myelofibrosis as an Extremely Rare Combination of Clonal Hematological Diseases: A Literature Review and Two Clinical Case Reports. Clinical Oncohematology. 2024;(2):195–203. doi:10.21320/2500-2139-2024-17-2-195-203.
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Keywords

Abstract

The combinations of paroxysmal nocturnal hemoglobinuria (PNH) and chronic myeloproliferative neoplasms (CMPNs) are extremely rare. All of them refer to clonal hematological diseases and are characterized by high thrombosis risk, which most commonly causes death. This paper provides literature data on 38 combined cases of PNH and Ph-negative/Ph-positive CMPNs mainly in the “case report” format, taken from 22 sources published in 1970–2022. Additionally, the paper reports personal experience with 2 combined cases of PNH and primary myelofibrosis (PMF/PNH) from the archive of the Moscow Municipal Center for Hematology (SP Botkin City Clinical Hospital).

PDF_2024-17-2_195-203 (Russian)

References

  1. Клинические рекомендации. Пароксизмальная ночная гемоглобинурия. Минздрав РФ, 2021 (электронный документ). Доступно по: https://cr.minzdrav.gov.ru/recomend/695_1. Ссылка активна на 27.12.2023. [Clinical guidelines. Paroxysmal nocturnal hemoglobinuria. Ministry of Health of the Russian Federation (Internet). Available from: https://cr.minzdrav.gov.ru/recomend/695_1. Accessed 27.12.2023. (In Russ)]
  2. Кулагин А.Д., Климова О.У., Добронравов А.В. и др. Клиническая манифестация и ошибки диагностики классической пароксизмальной ночной гемоглобинурии: анализ 150 наблюдений. Клиническая онкогематология. 2017;10(3):333–41. doi: 10.21320/2500-2139-2017-10-3-333-341. [Kulagin AD, Klimova OU, Dobronravov AV, et al. Clinical Manifestation and Errors in the Diagnosis of Classical Paroxysmal Nocturnal Hemoglobinuria: A case series of 150 patients. Clinical oncohematology. 2017;10(3):333–41. doi: 10.21320/2500-2139-2017-10-3-333-341. (In Russ)]
  3. Кулагин А.Д., Лисуков И.А., Птушкин В.В. и др. Национальные клинические рекомендации по диагностике и лечению пароксизмальной ночной гемоглобинурии. Онкогематология. 2014;9(2):20–8. doi: 10.17650/1818-8346-2014-9-2-20-28. [Kulagin AD, Lisukov IA, Ptushkin VV, et al. National clinical guidelines for the diagnosis and treatment of paroxysmal nocturnal hemoglobinuria. Oncohematology. 2014;9(2):20–8. doi: 10.17650/1818-8346-2014-9-2-20-28. (In Russ)]
  4. Лисуков И.А., Кулагин А.Д., Афанасьев Б.В. Лечение пароксизмальной ночной гемоглобинурии. Онкогематология. 2012;7(3):49–54. doi: 10.17650/1818-8346-2012-7-3-49-54. [Lisukov IA, Kulagin AD, Afanasyev BV. Treatment of paroxysmal nocturnal hemoglobinuria. Oncohematology. 2012;7(3):49–54. doi: 10.17650/1818-8346-2012-7-3-49-54. (In Russ)]
  5. Scheinberg P, Young NS. How I treat acquired aplastic anemia. Blood. 2012;120(6):1185–96. doi: 10.1182/blood-2011-12-274019.
  6. Morado M, Freire Sandes A, Colado E, et al. Diagnostic screening of paroxysmal nocturnal hemoglobinuria: Prospective multicentric evaluation of the current medical indications. Cytometry B Clin Cytom. 2017;92(5):361–70. doi: 10.1002/cyto.b.21480.
  7. Raza A, Ravandi F, Rastogi A, et al. A prospective multicenter study of paroxysmal nocturnal hemoglobinuria cells in patients with bone marrow failure. Cytometry B Clin Cytom. 2014;86(3):175–82. doi: 10.1002/cyto.b.21139.
  8. Fattizzo B, Ireland R, Dunlop A, et al. Clinical and prognostic significance of small paroxysmal nocturnal hemoglobinuria clones in myelodysplastic syndrome and aplastic anemia. Leukemia. 2021;35(11):3223–31. doi: 10.1038/s41375-021-01190-9.
  9. Parker C, Omine M, Richards S, et al. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood. 2005;106(12):3699–709. doi: 10.1182/blood-2005-04-1717.
  10. Sharma VR. Paroxysmal nocturnal hemoglobinuria: pathogenesis, testing, and diagnosis. Clin Adv Hematol Oncol. 2013;11 Suppl 13(9):2–8.
  11. Borowitz MJ, Craig FE, Digiuseppe JA, et al. Clinical Cytometry Society. Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry. Cytometry B Clin Cytom. 2010;78(4):211–30. doi: 10.1002/cyto.b.20525.
  12. Меликян А.Л., Ковригина А.М., Суборцева И.Н. и др. Национальные клинические рекомендации по диагностике и лечению Ph-негативных миелопролиферативных заболеваний (истинной полицитемии, эссенциальной тромбоцитемии, первичного миелофиброза) (редакция 2020 г.). Клиническая онкогематология. 2021;14(2):262–98. doi: 10.21320/2500-2139-2021-14-2-262-298. [Melikyan AL, Kovrigina AM, Subortseva IN, et al. National Clinical Guidelines on Diagnosis and Treatment of Ph-Negative Myeloproliferative Neoplasms (Polycythemia Vera, Essential Thrombocythemia, and Primary Myelofibrosis) (Edition 2020). Clinical oncohematology. 2021;14(2):262–98. doi: 10.21320/2500-2139-2021-14-2-262-298. (In Russ)]
  13. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia. 2022;36(7):1703–19. doi: 10.1038/s41375-022-01613-1.
  14. Hansen NE, Killmann SA. Paroxysmal nocturnal hemoglobinuria in myelofibrosis. Blood. 1970;36(4):428–31.
  15. Hirai H, Asahara A, Suzuki R. A case of myelofibrosis with paroxysmal nocturnal hemoglobinuria. Rinsho Ketsueki. 1973;14(7):805–11. Japanese.
  16. Boyd AW, Parkin JD, Castaldi PA. A Case of Paroxysmal Nocturnal Haemoglobinuria Terminating in a Myeloproliferative Syndrome. Aust N Z J Med. 1979;9(2):181–3. doi: 10.1111/j.1445-5994.1979.tb04325.x.
  17. Almquist A, Holm J, Wahlin A. Response to busulphan treatment of paroxysmal nocturnal hemoglobinuria and myelofibrosis in one and the same patient. Acta Med Scand. 1981;209(1–2):133–5. doi: 10.1111/j.0954-6820.1981.tb11566.x.
  18. Graham DL, Gastineau DA. Paroxysmal Nocturnal Hemoglobinuria as a Marker for Clonal Myelopathy. Am J Med. 1992;93(6):671–4. doi: 10.1016/0002-9343(92)90201-l.
  19. Nakahata J, Takahashi M, Fuse I, et al. Paroxysmal Nocturnal Hemoglobinuria With Myelofibrosis: Progression to Acute Myeloblastic Leukemia. Leuk Lymphoma. 1993;12(1–2):137–42. doi: 10.3109/10428199309059582.
  20. Shaheen SP 2nd, Talwalkar SS, Simons R, Yam L. Acute Lymphoblastic Leukemic Transformation in a Patient with Chronic Idiopathic Myelofibrosis and Paroxysmal Nocturnal Hemoglobinuria: A Case Report and Review of the Literature. Arch Pathol Lab Med. 2005;129(1):96–9. doi: 10.5858/2005-129-96-ALLTIA.
  21. Meletis J, Terpos E, Samarkos M, et al. Detection of CD 55 and/or CD59 deficient red cell population in patient with aplastic anemia, myelodysplastic syndromes and myeloproliferative disorders. Haemotologia (Budap). 2001;31(1):7–16. doi: 10.1163/15685590151092643.
  22. Sugimori C, Padron E, Caceres G, et al. Paroxysmal nocturnal hemoglobinuria and concurrent JAK2(V617F) mutation. Blood Cancer J. 2012;2(3):e63. doi: 10.1038/bcj.2012.7.
  23. Chen Y, Tao S, Deng Y, et al. Chronic myeloid leukemia transformation in a patient with paroxysmal nocturnal hemoglobinuria: a rare case report with literature review. Int J Clin Exp Med. 2015;8(5):8226–9.
  24. Саврилова А.М., Костерина А.В., Мартынкевич И.С. Сочетание пароксизмальной ночной гемоглобинурии и миелопролиферативного заболевания. Практическая медицина. 2015;4–2(89):101–3. [Savrilova AM, Kosterina AV, Martynkevich IS. Combination of paroxysmal nocturnal hemoglobinuria with myeloproliferative neoplasm. Prakticheskaya meditsina. 2015;4–2(89):101–3. (In Russ)]
  25. Fraiman YS, Cuka N, Batista D, et al. Development of paroxysmal nocturnal hemoglobinuria in CALR-positive myeloproliferative neoplasm. J Blood Med. 2016;7:107–10. doi: 10.2147/JBM.S103473.
  26. Tominaga R, Katagiri T, Kataoka K, et al. Paroxysmal nocturnal hemoglobinuria induced by the occurrence of BCR-ABL in a PIGA mutant hematopoietic progenitor cell. Leukemia. 2016;30(5):1208–10. doi: 10.1038/leu.2015.268.
  27. Gaidano V, Geuna M, Cignetti A, et al. Myeloproliferative neoplasms, thrombosis and paroxysmal nocturnal hemoglobinuria: Is this triad more frequent than we thought? Hematol Med Oncol. 2017;2(4). doi: 10.15761/HMO.1000132.
  28. Kirito K. Expansion of paroxysmal nocturnal hemoglobinuria clones in MPLW515L mutation harboring primary myelofibrosis. Ann Hematol. 2020;99(11):2707–9. doi: 10.1007/s00277-020-04088-1.
  29. Chatzidavid S, Giannakopoulou N, Diamantopoulos PT, et al. JAK2V617F positive polycythemia vera with paroxysmal nocturnal hemoglobinuria and visceral thromboses: a case report and review of the literature. Thromb J. 2021;19(1):16. doi: 10.1186/s12959-021-00269-8.
  30. Park S, So MK, Cho MS, et al. Coexistence of Primary Myelofibrosis and Paroxysmal Nocturnal Hemoglobinuria Clone with JAK2 V617F, U2AF1 and SETBP1 Mutations: A Case Report and Brief Review of Literature. Diagnostics (Basel). 2021;11(9):1644. doi: 10.3390/diagnostics11091644.
  31. Giannotta JA, Fattizzo B, Barcellini W. Paroxysmal Nocturnal Hemoglobinuria in the Context of a Myeloproliferative Neoplasm: A Case Report and Review of the Literature. Front Oncol. 2021;11:756589. doi: 10.3389/fonc.2021.756589.
  32. Alsalman Z, Alsalman M, Albesher M, et al. Primary myelofibrosis with concurrent paroxysmal nocturnal haemoglobinuria presenting with erectile dysfunction. Oxf Med Case Reports. 2022;2022(5):omac047. doi: 10.1093/omcr/omac047.
  33. Gutwein O, Englander Y, Herzog-Tzarfati K, et al. Prevalence of Paroxysmal Nocturnal Hemoglobinuria Clones in Myeloproliferative Neoplasm Patients: A Cross-Sectional Study. Clin Lymphoma Myeloma Leuk. 2019;19(12):812–4. doi: 10.1016/j.clml.2019.07.441.
  34. Nazha A, Jorgensen JL, Verstovsek S. Paroxysmal nocturnal hemoglobinuria is not a cause of anemia in patients with myelofibrosis. Leuk Lymphoma. 2014;55(9):2215–6. doi: 10.3109/10428194.2013.876628.
  35. Cooper JP, Farah RJ, Stevenson PA, et al. Hematopoietic Cell Transplantation for Paroxysmal Nocturnal Hemoglobinuria in the Age of Eculizumab. Biol Blood Marrow Transplant. 2019;25(7):1331–9. doi: 10.1016/j.bbmt.2019.01.033.
  36. Richards SJ, Dickinson AJ, Cullen MJ, et al. Presentation clinical, haematological and immunophenotypic features of 1081 patients with GPI-deficient (paroxysmal nocturnal haemoglobinuria) cells detected by flow cytometry. Br J Haematol. 2020;189(5):954–66. doi: 10.1111/bjh.16427.
  37. Li J, Lin Y, Chen L, et al. Identification of acquired PIGA mutations and additional variants by next-generation sequencing in paroxysmal nocturnal hemoglobinuria. Int J Lab Hematol. 2020;42(4):473–81. doi: 10.1111/ijlh.13228.
  38. Shen W, Clemente MJ, Hosono N, et al. Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria. J Clin Invest. 2014;124(10):4529–38. doi: 10.1172/JCI74747.
  39. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–405. doi: 10.1182/blood-2016-03-643544.
  40. Cervantes F, Dupriez B, Pereira A, et al. New prognostic scoring system for primary myelofibrosis based on a study of the International Working Group for Myelofibrosis Research and Treatment. Blood. 2009;113(13):2895–901. doi: 10.1182/blood-2008-07-170449.
  41. Passamonti F, Cervantes F, Vannucchi AM, et al. A dynamic prognostic model to predict survival in primary myelofibrosis: a study by the IWG-MRT (International Working Group for Myeloproliferative Neoplasms Research and Treatment). Blood. 2010;115(9):1703–8. doi: 10.1182/blood-2009-09-245837.
  42. Gangat N, Caramazza D, Vaidya R, et al. DIPSS Plus: A Refined Dynamic International Prognostic Scoring System for Primary Myelofibrosis That Incorporates Prognostic Information From Karyotype, Platelet Count, and Transfusion Status. J Clin Oncol. 2011;29(4):392–7. doi: 10.1200/JCO.2010.32.2446.
  43. Patel KP, Newberry KJ, Luthra R, et al. Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib. Blood. 2015;126(6):790–7. doi: 10.1182/blood-2015-03-633404.
  44. Spiegel JY, McNamara C, Kennedy JA, et al. Impact of genomic alterations on outcomes in myelofibrosis patients undergoing JAK1/2 inhibitor therapy. Blood Adv. 2017;1(20):1729–38. doi: 10.1182/bloodadvances.2017009530.
  45. Виноградова О.Ю., Шихбабаева Д.И., Кобзев Ю.Н. и др. Молекулярные маркеры как возможные предикторы эффективности таргетной терапии миелофиброза: одноцентровое исследование. Онкогематология. 2023;18(4):115–34. doi: 10.17650/1818-8346-2023-18-4-115-134. [Vinogradova OYu, Shikhbabaeva DI, Kobzev YuN, et al. Molecular markers as possible efficacy predictors of targeted therapy for myelofibrosis: single-center study. Oncohematology. 2023;18(4):115–34. doi: 10.17650/1818-8346-2023-18-4-115-134. (In Russ)]
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