Literature DB >> 19001281

Detection of paroxysmal nocturnal hemoglobinuria clones in patients with myelodysplastic syndromes and related bone marrow diseases, with emphasis on diagnostic pitfalls and caveats.

Sa A Wang1, Olga Pozdnyakova, Jeffrey L Jorgensen, L Jeffrey Medeiros, Dariusz Stachurski, Mary Anderson, Azra Raza, Bruce A Woda.   

Abstract

BACKGROUND: The presence of paroxysmal nocturnal hemoglobinuria clones in the setting of aplastic anemia or myelodysplastic syndrome has been shown to have prognostic and therapeutic implications. However, the status of paroxysmal nocturnal hemoglobinuria clones in various categories of myelodysplastic syndrome and in other bone marrow disorders is not well-studied. DESIGN AND METHODS: By using multiparameter flow cytometry immunophenotypic analysis with antibodies specific for four glycosylphosphatidylinositol-anchored proteins (CD55, CD59, CD16, CD66b) and performing an aerolysin lysis confirmatory test in representative cases, we assessed the paroxysmal nocturnal hemoglobinuria-phenotype granulocytes in 110 patients with myelodysplastic syndrome, 15 with myelodysplastic/myeloproliferative disease, 5 with idiopathic myelofibrosis and 6 with acute myeloid leukemia.
RESULTS: Paroxysmal nocturnal hemoglobinuria-phenotype granulocytes were detected in nine patients with low grade myelodysplastic syndrome who showed clinicopathological features of bone marrow failure, similar to aplastic anemia. All paroxysmal nocturnal hemoglobinuria-positive cases demonstrated loss of the four glycosylphosphatidylinositol-anchored proteins, with CD16(-)CD66b(-) clones being larger than those of CD55(-)CD59(-) (p<0.05). Altered glycosylphosphatidylinositol-anchored protein expression secondary to granulocytic hypogranulation, immaturity, and/or immunophenotypic abnormalities was present in a substantial number of cases and diagnostically challenging.
CONCLUSIONS: These results show that routine screening for paroxysmal nocturnal hemoglobinuria clones in patients with an intrinsic bone marrow disease who show no clinical evidence of hemolysis has an appreciable yield in patients with low grade myelodysplastic syndromes. The recognition of diagnostic caveats and pitfalls associated with the underlying intrinsic bone marrow disease is essential in interpreting paroxysmal nocturnal hemoglobinuria testing correctly. In our experience, the CD16/CD66b antibody combination is superior to CD55/CD59 in screening for subclinical paroxysmal nocturnal hemoglobinuria because it detects a large clone size and is less subject to analytical interference.

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Year:  2008        PMID: 19001281      PMCID: PMC2625410          DOI: 10.3324/haematol.13601

Source DB:  PubMed          Journal:  Haematologica        ISSN: 0390-6078            Impact factor:   9.941


  33 in total

1.  Expression of the DAF (CD55) and CD59 antigens during normal hematopoietic cell differentiation.

Authors:  L W Terstappen; M Nguyen; H M Lazarus; M E Medof
Journal:  J Leukoc Biol       Date:  1992-12       Impact factor: 4.962

2.  Diagnostic utility of flow cytometric immunophenotyping in myelodysplastic syndrome.

Authors:  M Stetler-Stevenson; D C Arthur; N Jabbour; X Y Xie; J Molldrem; A J Barrett; D Venzon; M E Rick
Journal:  Blood       Date:  2001-08-15       Impact factor: 22.113

3.  Multilineage glycosylphosphatidylinositol anchor-deficient haematopoiesis in untreated aplastic anaemia.

Authors:  G L Mukhina; J T Buckley; J P Barber; R J Jones; R A Brodsky
Journal:  Br J Haematol       Date:  2001-11       Impact factor: 6.998

4.  Deficiency of glycosyl-phosphatidylinositol-linked membrane glycoproteins of leukocytes in paroxysmal nocturnal hemoglobinuria, description of a new diagnostic cytofluorometric assay.

Authors:  C E van der Schoot; T W Huizinga; E T van 't Veer-Korthof; R Wijmans; J Pinkster; A E von dem Borne
Journal:  Blood       Date:  1990-11-01       Impact factor: 22.113

5.  Myeloid and monocytic dyspoiesis as determined by flow cytometric scoring in myelodysplastic syndrome correlates with the IPSS and with outcome after hematopoietic stem cell transplantation.

Authors:  Denise A Wells; Martin Benesch; Michael R Loken; Carlos Vallejo; David Myerson; Wendy M Leisenring; H Joachim Deeg
Journal:  Blood       Date:  2003-03-20       Impact factor: 22.113

6.  Development of the glycosylphosphatitylinositol-anchoring defect characteristic for paroxysmal nocturnal hemoglobinuria in patients with aplastic anemia.

Authors:  J Schubert; H G Vogt; M Zielinska-Skowronek; M Freund; J P Kaltwasser; D Hoelzer; R E Schmidt
Journal:  Blood       Date:  1994-04-15       Impact factor: 22.113

7.  Increased resistance of PIG-A- bone marrow progenitors to tumor necrosis factor a and interferon gamma: possible implications for the in vivo dominance of paroxysmal nocturnal hemoglobinuria clones.

Authors:  Wilma Barcellini; Elisa Fermo; Francesca Guia Imperiali; Anna Zaninoni; Paola Bianchi; Carla Boschetti; Alberto Zanella
Journal:  Haematologica       Date:  2004-06       Impact factor: 9.941

8.  A pathogenetic link between aplastic anemia and paroxysmal nocturnal hemoglobinuria is suggested by a high frequency of aplastic anemia patients with a deficiency of phosphatidylinositol glycan anchored proteins.

Authors:  H Schrezenmeier; B Hertenstein; B Wagner; A Raghavachar; H Heimpel
Journal:  Exp Hematol       Date:  1995-01       Impact factor: 3.084

9.  Clinical significance of a minor population of paroxysmal nocturnal hemoglobinuria-type cells in bone marrow failure syndrome.

Authors:  Hongbo Wang; Tatsuya Chuhjo; Shizuka Yasue; Mitsuhiro Omine; Shinji Nakao
Journal:  Blood       Date:  2002-08-08       Impact factor: 22.113

10.  Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.

Authors:  J Takeda; T Miyata; K Kawagoe; Y Iida; Y Endo; T Fujita; M Takahashi; T Kitani; T Kinoshita
Journal:  Cell       Date:  1993-05-21       Impact factor: 41.582

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  20 in total

1.  The small population of PIG-A mutant cells in myelodysplastic syndromes do not arise from multipotent hematopoietic stem cells.

Authors:  Jeffrey J Pu; Rong Hu; Galina L Mukhina; Hetty E Carraway; Michael A McDevitt; Robert A Brodsky
Journal:  Haematologica       Date:  2012-02-07       Impact factor: 9.941

2.  Paroxysmal nocturnal hemoglobinuria and myelodysplastic syndromes: clonal expansion of PIG-A-mutant hematopoietic cells in bone marrow failure.

Authors:  Neal S Young
Journal:  Haematologica       Date:  2009-01       Impact factor: 9.941

Review 3.  Immunologic aspects of hypoplastic myelodysplastic syndrome.

Authors:  Rodrigo T Calado
Journal:  Semin Oncol       Date:  2011-10       Impact factor: 4.929

4.  FLAER Based Assay According to Newer Guidelines Increases Sensitivity of PNH Clone Detection.

Authors:  Prabhu Manivannan; Seema Tyagi; Hara Prasad Pati; Renu Saxena
Journal:  Indian J Hematol Blood Transfus       Date:  2019-11-05       Impact factor: 0.900

5.  A Prospective, Cross Sectional Study of PNH Clone in MDS Patients Using High Sensitivity Flowcytometry: A Single Center Experience.

Authors:  Faran Naim; Amrita Saraf; Jasmita Dass; Vandana Arya; Sabina Langer; Nitin Gupta; Ajay Sharma; Jyoti Kotwal
Journal:  Indian J Hematol Blood Transfus       Date:  2019-10-24       Impact factor: 0.900

6.  Paroxysmal nocturnal hemoglobinuria is not a cause of anemia in patients with myelofibrosis.

Authors:  Aziz Nazha; Jeffrey L Jorgensen; Srdan Verstovsek
Journal:  Leuk Lymphoma       Date:  2014-01-24

7.  Paroxysmal nocturnal hemoglobinuria testing in patients with myelodysplastic syndrome in clinical practice-frequency and indications.

Authors:  S A Wong; B I Dalal; H A Leitch
Journal:  Curr Oncol       Date:  2018-10-31       Impact factor: 3.677

8.  Copper deficiency with 20q deletion and a paroxysmal nocturnal haemoglobinuria clone presenting with bicytopenia.

Authors:  Rekha Bhat; Swati Pai; Ashish Dixit
Journal:  Indian J Hematol Blood Transfus       Date:  2014-06-13       Impact factor: 0.900

9.  Frequency of paroxysmal nocturnal hemoglobinuria in patients attended in Belém, Pará, Brazil.

Authors:  Lacy Cardoso de Brito Junior; Maria do Socorro de Oliveira Cardoso; Euzamar Gaby Rocha; Herika Anijar; Mariana Cunha; João Carlos Pina Saraiva
Journal:  Rev Bras Hematol Hemoter       Date:  2011

10.  Chronic myeloid leukemia transformation in a patient with paroxysmal nocturnal hemoglobinuria: a rare case report with literature review.

Authors:  Yue Chen; Shandong Tao; Yuan Deng; Lixiao Song; Liang Yu
Journal:  Int J Clin Exp Med       Date:  2015-05-15
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