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When karyotype is decisive for myelodysplastic syndromes diagnosis
Perazzio, Aline dos Santos Borgo; Chauffaille, Maria de Lourdes L. Ferrari.
Afiliação
  • Perazzio, Aline dos Santos Borgo; Universidade Federal de São Paulo - UNIFESP. São Paulo. BR
  • Chauffaille, Maria de Lourdes L. Ferrari; Universidade Federal de São Paulo - UNIFESP. São Paulo. BR
Hematol., Transfus. Cell Ther. (Impr.) ; 41(4): 371-373, Oct.-Dec. 2019.
Article em En | LILACS | ID: biblio-1056241
Biblioteca responsável: BR408.1
Localização: BR408.1
ABSTRACT
ABSTRACT

Introduction:

The myelodysplastic syndromes (MDS) are a group of heterogeneous clonal hematopoietic stem cell disorders that results in peripheral blood (PB) cytopenias and bone marrow (BM) dysplasia. Dysplasia is the hallmark of the disorder, and must exceed the threshold of 10%. Conventional karyotype (KT) has a role in the classification and prognostication of subtypes. In daily practice, many cases are diagnosed in face of exuberant clinical complains, but cases with dismal evidences pose real difficulties to definitively conclude the case. Material and

methods:

The objective of this study is to detect cases in which no morphology evidence of dysplasia or increased blasts were observed but KT was decisive for MDS diagnosis. 666 cases were admitted to rule out MDS.

Results:

There were found 5 (0.75%) cases who presented no evident dysplasia morphology or whose dysplasia was borderline but the karyotype was decisive because showed clonal evidence. The karyotype was case 1 46,XY,del(5q)(q13q33),del(11)(q13q23)[7]/46,XY[13]; case 2 46,XX,del(11)(q21q23)[20]; case 3 46,XX,del(7)(q22q34)[4]/46,XX[8]; case 4 47,XX,del(5)(q13q33),+mar[12]/46,XX[8] and case 5 46,XXt(2;11)(p21;q24),del(4)(?q25),del(21)(q22)[14]/46,XX[6].

Conclusion:

Patients with cytopenia and insufficient or borderline evidence of dysplasia may experience a long journey before a MDS diagnosis is made. Cytogenetics studies may abbreviate this pathway when clonal aberrations considered presumptive of MDS are detected. This study shows that karyotype should still be considered as a diagnostic tool.
Assuntos
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Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Assunto principal: Síndromes Mielodisplásicas / Cariótipo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Aged / Aged80 / Female / Humans / Male Idioma: En Revista: Hematol., Transfus. Cell Ther. (Impr.) Assunto da revista: Hematologia / TransfusÆo de Sangue Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Brasil País de publicação: Brasil

Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Assunto principal: Síndromes Mielodisplásicas / Cariótipo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Aged / Aged80 / Female / Humans / Male Idioma: En Revista: Hematol., Transfus. Cell Ther. (Impr.) Assunto da revista: Hematologia / TransfusÆo de Sangue Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Brasil País de publicação: Brasil