+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

5q- syndrome presenting chronic myeloproliferative disorders-like manifestation: A case report



5q- syndrome presenting chronic myeloproliferative disorders-like manifestation: A case report



American Journal of Hematology 64(2): 120-123



A 28-year-old Japanese woman with suspected essential thrombocythemia (ET) had marked thrombocytosis, mild leukocytosis with normal neutrophil alkaline phosphatase activity, and no anemia. She was monitored without being given any medication. Eleven years later, complete blood counts showed no remarkable changes but some non-lobulated mononuclear megakaryocytes were found in the bone marrow. Cytogenetic analysis revealed deletion of the long arm of chromosome 5 (5q-). Subsequently, hemoglobin and platelet counts decreased gradually, splenomegaly appeared and progressed, after which myelofibrosis developed. Acute leukemia developed 16 years after the first documentation of thrombocytosis. 5q- syndrome is known to be a myelodysplastic syndrome (MDS) with unique clinical features and cases with this syndrome presenting with thrombocytosis of more than 1,000 x 10(9)/L but without anemia are rare. Furthermore, it is noteworthy that in this patient transition to acute leukemia occurred following development of myelofibrosis and marked splenomegaly, which are generally observed in blastic crises resulting from chronic myeloproliferative disorders (CMPD). The patient showed features indicative of CMPD rather than of MDS in spite of presenting with 5q- chromosomal abnormality. This case supports the concept of "mixed myelodysplastic and myeloproliferative syndromes" and suggests the possibility of the appearance of CMPD-like manifestations in 5q- syndrome.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 010043895

Download citation: RISBibTeXText

PMID: 10814992

DOI: 10.1002/(sici)1096-8652(200006)64:2<120::aid-ajh9>3.0.co;2-m


Related references

5q-Syndrome in a patient with chronic exposure to ionizing radiation. Cancer Genetics and Cytogenetics 5(1): 75-80, 1982

Transient myeloproliferative disorder and acute myeloid leukemia in Down syndrome. An immunophenotypic analysis. American Journal of Clinical Pathology 116(2): 204-210, 2001

8p deletion is strongly linked to poor prognosis in breast cancer. Cancer Biology and Therapy 16(7): 1080-1087, 2015

Vasculitis and long standing ankylosing spondylitis in a patient with familial Mediterranean fever. Journal of Research in Medical Sciences 19(10): 1009-1011, 2014

Refractory ascites in peritoneal mesothelioma Diagnostic and therapeutic management. Revista Espanola De Enfermedades Digestivas. 87(3): 263-266, 1995

Unilateral sudden deafness as a primary symptom of brainstem and cerebellar infarction. No to Shinkei 58(9): 807-812, 2006

Splanchnic vein thrombosis in the mediterranean area in children. Mediterranean Journal of Hematology and Infectious Diseases 3(1): E2011027, 2011

8b,8c-Diphenyl-2,6-bis(4-pyridyl-meth-yl)-perhydro-2,3a,4a,6,7a,8a-hexa-aza-cyclo-penta-[def]fluorene-4,8-dithione chloro-form solvate. Acta Crystallographica. Section E Structure Reports Online 66(Pt 7): O1524, 2010

Lateral medullary infarct/Wallenberg syndrome--Jamaica. West Indian Medical Journal 61(7): 746-750, 2012

Unclassified cardiomyopathies: subspecies and their transformation. Journal of Cardiology 31(2): 91-97, 1998

Unclassified autosomal dominant nephropathy. Journal of the American Society of Nephrology 2(3): 258, 1991

Mesenteric vein L-glycine infusion alters splanchnic amino acid metabolism in steers. FASEB Journal 10(3): A514, 1996

Acute compartment syndrome after a bowling game. Der Unfallchirurg 118(11): 987-990, 2015