Myelodysplastic syndrome with fibrosis and complex karyotyparising in a patient with essential thrombocythaemia

Research output: Contribution to journalArticle

Abstract

Introduction: Essential thrombocythaemia (ET) is a chronic myeloproliferative neoplasm (MPN) characterised by persistent thombocytosis. It is an indolent disorder but transformation to myelofibrosis (MF), acute myeloid leukaemia (AML) or myelodyplastic syndrome (MDS) has been reported. Case Report: We described a patient with ET whose disease evolved into MDS with fibrosis and complex karyotype after 15 years of stable disease. She was asymptomatic and was on hydroxyurea (HU) treatment until recently when she presented with worsening anaemia. Physical examination showed mild splenomegaly. Full blood picture showed leukoerythroblastic picture with presence of 3% circulating blasts and background of dysplastic features such as hypogranular cytoplasm and nuclear hyposegmentation of neutrophils. The bone marrow aspiration was haemodiluted but revealed presence of 6% blast cells, trilineage dysplasia and predominant erythroid precursors (60%). Trephine biopsy showed no excess of blast cells and normal quantity of erythroid precursors, but there was increased in fibrosis (WHO grade 2) and presence of dysmegakaryopoeisis such as nuclear hypolobation, multinucleation and micromegakaryocytes. Cytogenetic study showed complex karyotype; monosomy of chromosome 2, chromosome 5, chromosome 18 and presence of a marker chromosome (42~44, XX,-2,-5,-18,+mar). Fluorescence in situ hybridisation (FISH) showed 5q deletion (CSF1R and EGR1). Conclusion: The findings were consistent with transformation of ET to MDS with fibrosis and complex karyotype. ET progression to MDS is considered rare. The presence of complex karyotype and fibrosis in MDS are associated with unfavourable outcome.

Original languageEnglish
Pages (from-to)191-197
Number of pages7
JournalMalaysian Journal of Pathology
Volume40
Issue number2
Publication statusPublished - 1 Aug 2018

Fingerprint

Essential Thrombocythemia
Myelodysplastic Syndromes
Fibrosis
Karyotype
Mars
Chromosomes, Human, Pair 18
Monosomy
Chromosomes, Human, Pair 5
Primary Myelofibrosis
Chromosomes, Human, Pair 2
Hydroxyurea
Splenomegaly
Fluorescence In Situ Hybridization
Genetic Markers
Acute Myeloid Leukemia
Cytogenetics
Physical Examination
Anemia
Cytoplasm
Neutrophils

Keywords

  • Complex karyotype
  • Essential thrombocythaemia
  • Myelodysplastic syndrome
  • Myeloproliferative neoplasm

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Cell Biology

Cite this

@article{bcd2453e702f4fcd93e4219a78c6a835,
title = "Myelodysplastic syndrome with fibrosis and complex karyotyparising in a patient with essential thrombocythaemia",
abstract = "Introduction: Essential thrombocythaemia (ET) is a chronic myeloproliferative neoplasm (MPN) characterised by persistent thombocytosis. It is an indolent disorder but transformation to myelofibrosis (MF), acute myeloid leukaemia (AML) or myelodyplastic syndrome (MDS) has been reported. Case Report: We described a patient with ET whose disease evolved into MDS with fibrosis and complex karyotype after 15 years of stable disease. She was asymptomatic and was on hydroxyurea (HU) treatment until recently when she presented with worsening anaemia. Physical examination showed mild splenomegaly. Full blood picture showed leukoerythroblastic picture with presence of 3{\%} circulating blasts and background of dysplastic features such as hypogranular cytoplasm and nuclear hyposegmentation of neutrophils. The bone marrow aspiration was haemodiluted but revealed presence of 6{\%} blast cells, trilineage dysplasia and predominant erythroid precursors (60{\%}). Trephine biopsy showed no excess of blast cells and normal quantity of erythroid precursors, but there was increased in fibrosis (WHO grade 2) and presence of dysmegakaryopoeisis such as nuclear hypolobation, multinucleation and micromegakaryocytes. Cytogenetic study showed complex karyotype; monosomy of chromosome 2, chromosome 5, chromosome 18 and presence of a marker chromosome (42~44, XX,-2,-5,-18,+mar). Fluorescence in situ hybridisation (FISH) showed 5q deletion (CSF1R and EGR1). Conclusion: The findings were consistent with transformation of ET to MDS with fibrosis and complex karyotype. ET progression to MDS is considered rare. The presence of complex karyotype and fibrosis in MDS are associated with unfavourable outcome.",
keywords = "Complex karyotype, Essential thrombocythaemia, Myelodysplastic syndrome, Myeloproliferative neoplasm",
author = "Mansor, {Nor Ainiza} and Nurasyikin Yusof and Tang, {Yee Loong} and Azlin Ithnin and {Raja Sabudin}, {Raja Zahratul Azma} and Tumian, {Nor Rafeah} and Salwati Shuib",
year = "2018",
month = "8",
day = "1",
language = "English",
volume = "40",
pages = "191--197",
journal = "Malaysian Journal of Pathology",
issn = "0126-8635",
publisher = "Malaysian Society of Pathologists",
number = "2",

}

TY - JOUR

T1 - Myelodysplastic syndrome with fibrosis and complex karyotyparising in a patient with essential thrombocythaemia

AU - Mansor, Nor Ainiza

AU - Yusof, Nurasyikin

AU - Tang, Yee Loong

AU - Ithnin, Azlin

AU - Raja Sabudin, Raja Zahratul Azma

AU - Tumian, Nor Rafeah

AU - Shuib, Salwati

PY - 2018/8/1

Y1 - 2018/8/1

N2 - Introduction: Essential thrombocythaemia (ET) is a chronic myeloproliferative neoplasm (MPN) characterised by persistent thombocytosis. It is an indolent disorder but transformation to myelofibrosis (MF), acute myeloid leukaemia (AML) or myelodyplastic syndrome (MDS) has been reported. Case Report: We described a patient with ET whose disease evolved into MDS with fibrosis and complex karyotype after 15 years of stable disease. She was asymptomatic and was on hydroxyurea (HU) treatment until recently when she presented with worsening anaemia. Physical examination showed mild splenomegaly. Full blood picture showed leukoerythroblastic picture with presence of 3% circulating blasts and background of dysplastic features such as hypogranular cytoplasm and nuclear hyposegmentation of neutrophils. The bone marrow aspiration was haemodiluted but revealed presence of 6% blast cells, trilineage dysplasia and predominant erythroid precursors (60%). Trephine biopsy showed no excess of blast cells and normal quantity of erythroid precursors, but there was increased in fibrosis (WHO grade 2) and presence of dysmegakaryopoeisis such as nuclear hypolobation, multinucleation and micromegakaryocytes. Cytogenetic study showed complex karyotype; monosomy of chromosome 2, chromosome 5, chromosome 18 and presence of a marker chromosome (42~44, XX,-2,-5,-18,+mar). Fluorescence in situ hybridisation (FISH) showed 5q deletion (CSF1R and EGR1). Conclusion: The findings were consistent with transformation of ET to MDS with fibrosis and complex karyotype. ET progression to MDS is considered rare. The presence of complex karyotype and fibrosis in MDS are associated with unfavourable outcome.

AB - Introduction: Essential thrombocythaemia (ET) is a chronic myeloproliferative neoplasm (MPN) characterised by persistent thombocytosis. It is an indolent disorder but transformation to myelofibrosis (MF), acute myeloid leukaemia (AML) or myelodyplastic syndrome (MDS) has been reported. Case Report: We described a patient with ET whose disease evolved into MDS with fibrosis and complex karyotype after 15 years of stable disease. She was asymptomatic and was on hydroxyurea (HU) treatment until recently when she presented with worsening anaemia. Physical examination showed mild splenomegaly. Full blood picture showed leukoerythroblastic picture with presence of 3% circulating blasts and background of dysplastic features such as hypogranular cytoplasm and nuclear hyposegmentation of neutrophils. The bone marrow aspiration was haemodiluted but revealed presence of 6% blast cells, trilineage dysplasia and predominant erythroid precursors (60%). Trephine biopsy showed no excess of blast cells and normal quantity of erythroid precursors, but there was increased in fibrosis (WHO grade 2) and presence of dysmegakaryopoeisis such as nuclear hypolobation, multinucleation and micromegakaryocytes. Cytogenetic study showed complex karyotype; monosomy of chromosome 2, chromosome 5, chromosome 18 and presence of a marker chromosome (42~44, XX,-2,-5,-18,+mar). Fluorescence in situ hybridisation (FISH) showed 5q deletion (CSF1R and EGR1). Conclusion: The findings were consistent with transformation of ET to MDS with fibrosis and complex karyotype. ET progression to MDS is considered rare. The presence of complex karyotype and fibrosis in MDS are associated with unfavourable outcome.

KW - Complex karyotype

KW - Essential thrombocythaemia

KW - Myelodysplastic syndrome

KW - Myeloproliferative neoplasm

UR - http://www.scopus.com/inward/record.url?scp=85059798303&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85059798303&partnerID=8YFLogxK

M3 - Article

C2 - 30173238

AN - SCOPUS:85059798303

VL - 40

SP - 191

EP - 197

JO - Malaysian Journal of Pathology

JF - Malaysian Journal of Pathology

SN - 0126-8635

IS - 2

ER -