Literature DB >> 26800764

Detection of an Abnormal Myeloid Clone by Flow Cytometry in Familial Platelet Disorder With Propensity to Myeloid Malignancy.

Chi Young Ok1, Vasiliki Leventaki2, Sa A Wang1, Courtney Dinardo3, L Jeffrey Medeiros1, Sergej Konoplev4.   

Abstract

OBJECTIVES: To report aberrant myeloblasts detected by flow cytometry immunophenotypic studies in an asymptomatic patient with familial platelet disorder with propensity to myeloid malignancy, a rare autosomal dominant disease caused by germline heterozygous mutations in Runt-related transcription factor 1.
METHODS: Morphologic evaluation, flow cytometry immunophenotypic studies, nanofluidics-based qualitative multiplex reverse transcriptase polymerase chain reaction, Sanger sequencing, and next-generation sequencing-based mutational hotspot analysis of 53 genes were performed on bone marrow biopsy and aspirate samples.
RESULTS: Flow cytometry immunophenotypic analysis showed 0.6% CD34+ blasts with an abnormal immunophenotype: CD13 increased, CD33+, CD38 decreased, CD117 increased, and CD123 increased.
CONCLUSIONS: The acquisition of new phenotypic aberrancies in myeloblasts as detected by flow cytometry immunophenotypic studies might be a harbinger of impending myelodysplastic syndrome or acute myeloid leukemia in a patient with familial platelet disorder with propensity to myeloid malignancy. © American Society for Clinical Pathology, 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Entities:  

Keywords:  Familial platelet disorder; Myeloid malignancy; RUNX1

Mesh：

Substances：

Year:  2016        PMID： 26800764      PMCID： PMC4934016          DOI： 10.1093/ajcp/aqv080

Source DB:  PubMed          Journal:  Am J Clin Pathol        ISSN： 0002-9173            Impact factor:   2.493


  30 in total

1.  Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2.

Authors:  C Y Ho; B Otterud; R D Legare; T Varvil; R Saxena; D B DeHart; S E Kohler; J C Aster; S B Dowton; F P Li; M Leppert; D G Gilliland
Journal:  Blood       Date:  1996-06-15       Impact factor: 22.113

2.  Next-generation sequencing-based multigene mutational screening for acute myeloid leukemia using MiSeq: applicability for diagnostics and disease monitoring.

Authors:  Rajyalakshmi Luthra; Keyur P Patel; Neelima G Reddy; Varan Haghshenas; Mark J Routbort; Michael A Harmon; Bedia A Barkoh; Rashmi Kanagal-Shamanna; Farhad Ravandi; Jorge E Cortes; Hagop M Kantarjian; L Jeffrey Medeiros; Rajesh R Singh
Journal:  Haematologica       Date:  2013-10-18       Impact factor: 9.941

3.  Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

Authors:  W J Song; M G Sullivan; R D Legare; S Hutchings; X Tan; D Kufrin; J Ratajczak; I C Resende; C Haworth; R Hock; M Loh; C Felix; D C Roy; L Busque; D Kurnit; C Willman; A M Gewirtz; N A Speck; J H Bushweller; F P Li; K Gardiner; M Poncz; J M Maris; D G Gilliland
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

4.  Decreased platelet expression of myosin regulatory light chain polypeptide (MYL9) and other genes with platelet dysfunction and CBFA2/RUNX1 mutation: insights from platelet expression profiling.

Authors:  L Sun; J R Gorospe; E P Hoffman; A K Rao
Journal:  J Thromb Haemost       Date:  2006-10-18       Impact factor: 5.824

5.  T cell acute lymphoblastic leukemia arising from familial platelet disorder.

Authors:  Nahoko Nishimoto; Yoichi Imai; Koki Ueda; Masahiro Nakagawa; Akihito Shinohara; Motoshi Ichikawa; Yasuhito Nannya; Mineo Kurokawa
Journal:  Int J Hematol       Date:  2010-06-12       Impact factor: 2.490

6.  Flow cytometry immunophenotypic findings in chronic myelomonocytic leukemia and its utility in monitoring treatment response.

Authors:  Qi Shen; Juan Ouyang; Guilin Tang; Elias J Jabbour; Guillermo Garcia-Manero; Mark Routbort; Sergej Konoplev; Carlos Bueso-Ramos; L Jeffrey Medeiros; Jeffrey L Jorgensen; Sa A Wang
Journal:  Eur J Haematol       Date:  2015-04-17       Impact factor: 2.997

7.  In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.

Authors:  Joëlle Michaud; Feng Wu; Motomi Osato; Gregory M Cottles; Masatoshi Yanagida; Norio Asou; Katsuya Shigesada; Yoshiaki Ito; Kathleen F Benson; Wendy H Raskind; Colette Rossier; Stylianos E Antonarakis; Sara Israels; Archie McNicol; Harvey Weiss; Marshall Horwitz; Hamish S Scott
Journal:  Blood       Date:  2002-02-15       Impact factor: 22.113

8.  Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation.

Authors:  Paula G Heller; Ana C Glembotsky; Manish J Gandhi; Carrie L Cummings; Carlos J Pirola; Rosana F Marta; Laura I Kornblihtt; Jonathan G Drachman; Felisa C Molinas
Journal:  Blood       Date:  2005-03-01       Impact factor: 22.113

9.  Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome.

Authors:  M C J Jongmans; R P Kuiper; C L Carmichael; E J Wilkins; N Dors; A Carmagnac; A Y N Schouten-van Meeteren; X Li; M Stankovic; E Kamping; H Bengtsson; E F P M Schoenmakers; A Geurts van Kessel; P M Hoogerbrugge; C N Hahn; P P Brons; H S Scott; N Hoogerbrugge
Journal:  Leukemia       Date:  2009-10-15       Impact factor: 11.528

Review 10.  Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia.

Authors:  Peter Ganly; Logan C Walker; Christine M Morris
Journal:  Leuk Lymphoma       Date:  2004-01
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  4 in total

Review 1.  Role of RUNX1 in hematological malignancies.

Authors:  Raman Sood; Yasuhiko Kamikubo; Paul Liu
Journal:  Blood       Date:  2017-02-08       Impact factor: 22.113

Review 2.  Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).

Authors:  Anna L Brown; Christopher N Hahn; Hamish S Scott
Journal:  Blood       Date:  2020-07-02       Impact factor: 22.113

3.  Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation.

Authors:  Rashmi Kanagal-Shamanna; Sanam Loghavi; Courtney D DiNardo; L Jeffrey Medeiros; Guillermo Garcia-Manero; Elias Jabbour; Mark J Routbort; Rajyalakshmi Luthra; Carlos E Bueso-Ramos; Joseph D Khoury
Journal:  Haematologica       Date:  2017-06-28       Impact factor: 9.941

4.  RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Authors:  Anna L Brown; Peer Arts; Catherine L Carmichael; Milena Babic; Julia Dobbins; Chan-Eng Chong; Andreas W Schreiber; Jinghua Feng; Kerry Phillips; Paul P S Wang; Thuong Ha; Claire C Homan; Sarah L King-Smith; Lesley Rawlings; Cassandra Vakulin; Andrew Dubowsky; Jessica Burdett; Sarah Moore; Grace McKavanagh; Denae Henry; Amanda Wells; Belinda Mercorella; Mario Nicola; Jeffrey Suttle; Ella Wilkins; Xiao-Chun Li; Joelle Michaud; Peter Brautigan; Ping Cannon; Meryl Altree; Louise Jaensch; Miriam Fine; Carolyn Butcher; Richard J D'Andrea; Ian D Lewis; Devendra K Hiwase; Elli Papaemmanuil; Marshall S Horwitz; Georges Natsoulis; Hugh Y Rienhoff; Nigel Patton; Sally Mapp; Rachel Susman; Susan Morgan; Julian Cooney; Mark Currie; Uday Popat; Tilmann Bochtler; Shai Izraeli; Kenneth Bradstock; Lucy A Godley; Alwin Krämer; Stefan Fröhling; Andrew H Wei; Cecily Forsyth; Helen Mar Fan; Nicola K Poplawski; Christopher N Hahn; Hamish S Scott
Journal:  Blood Adv       Date:  2020-03-24
  4 in total

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