Diagnosis of paroxysmal nocturnal hemoglobinuria in peripheral blood and bone marrow with six-color flow cytometry

Biomarkers in Medicine

Volumn 7, Issue 1, 2013, Pages 99-111

  Yang, Hai Su ^a,b   Yang, Min ^a,b   Li, Xiaoyu ^a,b   Tugulea, Sorina ^a,b   Dong, Henry ^a,b  

^a Esoterix Genetic Laboratories LLC   (United States)

^b LABORATORY CORPORATION OF AMERICA   (United States)

Author keywords

FLAER; flow cytometry; fluorescent aerolysin; glycosylphosphatidylinositol; GPI; paroxysmal nocturnal hemoglobinuria

Indexed keywords

AEROLYSIN; CD14 ANTIGEN; CD15 ANTIGEN; CD16 ANTIGEN; CD235A ANTIGEN; CD24 ANTIGEN; CD33 ANTIGEN; CD59 ANTIGEN; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; LYMPHOCYTE ANTIGEN; UNCLASSIFIED DRUG;

ADULT; AGED; ANTIGEN EXPRESSION; ARTICLE; BLOOD ANALYSIS; BONE MARROW; BONE MARROW BIOPSY; CELL POPULATION; CELL SUSPENSION; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DILUTION; ERYTHROCYTE; FEMALE; FLOW CYTOMETRY; GIEMSA STAIN; GRANULOCYTE; HUMAN; HUMAN CELL; IMMUNOPHENOTYPING; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MALE; MONOCYTE; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; QUANTITATIVE ANALYSIS; SENSITIVITY AND SPECIFICITY;

ADULT; AGED; ANTIGENS, CD14; ANTIGENS, CD15; ANTIGENS, CD24; ANTIGENS, CD59; BACTERIAL TOXINS; BLOOD CELL COUNT; BONE MARROW; CELL LINEAGE; ERYTHROCYTES; FEMALE; FLOW CYTOMETRY; GPI-LINKED PROTEINS; GRANULOCYTES; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; IMMUNOPHENOTYPING; MALE; MIDDLE AGED; MONOCYTES; PORE FORMING CYTOTOXIC PROTEINS; RECEPTORS, IGG; SIALIC ACID BINDING IG-LIKE LECTIN 3;

EID: 84873439055     PISSN: 17520363     EISSN: 17520371     Source Type: Journal    
DOI: 10.2217/bmm.12.80     Document Type: Article

References (21)

1. Rosse WF, Ware RE. The molecular basis of paroxysmal nocturnal hemoglobinuria. Blood 86(9), 3277-3286 (1995).
2. Ware RE, Hall SE, Rosse WF. Paroxysmal nocturnal hemoglobinuria with onset in childhood and adolescence. N. Engl. J. Med. 325(14), 991-996 (1991).
3. Bessler M, Mason PJ, Hillmen P et al. Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. EMBO J. 13(1), 110-117 (1994).
4. Hu R, Mukhina GL, Piantadosi S, Barber JP, Jones RJ, Brodsky RA. PIG-A mutations in normal hematopoiesis. Blood 105(10), 3848-3854 (2005).
5. Miyata T, Takeda J, Iida Y et al. The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science 259(5099), 1318-1320 (1993).
6. Takeda J, Miyata T, Kawagoe K et al. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell 73(4), 703-711 (1993).
7. Richards SJ, Hill A, Hillmen P. Recent advances in the diagnosis, monitoring, and management of patients with paroxysmal nocturnal hemoglobinuria. Cytometry B Clin. Cytom. 72(5), 291-298 (2007).
8. Roth A, Duhrsen U, Schrezenmeier H, Schubert J. [Paroxysmal nocturnal hemoglobinuria (PNH). Pathogenesis, diagnosis and treatment]. Dtsch. Med. Wochenschr. 134(9), 404-409 (2009).
9. Hill A, Richards SJ, Hillmen P. Recent developments in the understanding and management of paroxysmal nocturnal haemoglobinuria. Br. J. Haematol. 137(3), 181-192 (2007).
10. Sutherland DR, Kuek N, Azcona-Olivera J et al. Use of a FLAER-based WBC assay in the primary screening of PNH clones. Am. J. Clin. Pathol. 132(4), 564-572 (2009).
11. Oelschlaegel U, Besson I, Arnoulet C et al. A standardized flow cytometric method for screening paroxysmal nocturnal haemoglobinuria (PNH) measuring CD55 and CD59 expression on erythrocytes and granulocytes. Clin. Lab. Haematol. 23(2), 81-90 (2001).
12. Parker C, Omine M, Richards S et al. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood 106(12), 3699-3709 (2005).
13. Hall SE, Rosse WF. The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Blood 87(12), 5332-5340 (1996).
14. Borowitz MJ, Craig FE, Digiuseppe JA et al. Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry. Cytometry B Clin. Cytom. 78(4), 211-230 (2010).
15. Richards SJ, Hillmen P. Immunophenotypic analysis of PNH cells. Curr. Protoc. Cytom. Chapter 6, Unit 6.11 (2002).
16. Brodsky RA, Mukhina GL, Li S et al. Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using fluorescent aerolysin. Am. J. Clin. Pathol. 114(3), 459-466 (2000).
17. Mukhina GL, Buckley JT, Barber JP, Jones RJ, Brodsky RA. Multilineage glycosylphosphatidylinositol anchor-deficient haematopoiesis in untreated aplastic anaemia. Br. J. Haematol. 115(2), 476-482 (2001).
18. Sutherland DR, Kuek N, Davidson J et al. Diagnosing PNH with FLAER and multiparameter flow cytometry. Cytometry B Clin. Cytom. 72(3), 167-177 (2007).
19. Hall C, Richards S, Hillmen P. Primary prophylaxis with warfarin prevents thrombosis in paroxysmal nocturnal hemoglobinuria (PNH). Blood 102(10), 3587-3591 (2003).
20. Moyo VM, Mukhina GL, Garrett ES, Brodsky RA. Natural history of paroxysmal nocturnal haemoglobinuria using modern diagnostic assays. Br. J. Haematol. 126(1), 133-138 (2004).
21. Wang SA, Pozdnyakova O, Jorgensen JL et al. Detection of paroxysmal nocturnal hemoglobinuria clones in patients with myelodysplastic syndromes and related bone marrow diseases, with emphasis on diagnostic pitfalls and caveats. Haematologica 94(1), 29-37 (2009).