The 5q- syndrome and autoimmune phenomena: Report of three cases

Pinheiro, Ronald Feitosa; Silva, Maria Regina Regis; Chauffaille, Maria de Lourdes L.F.

doi:10.1016/j.leukres.2005.08.025

Cited by 9 publications

(6 citation statements)

References 12 publications

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“…In addition, it has been noted that immune dysfunction in MDS could also contribute to the development of cytopenia in some groups of patients. Accumulating evidence has demonstrated the association of MDS and autoimmune manifestations, T-cell mediated myelosuppression and cytokine-induced cytopenia (14,15). Immunosuppressive therapy in selected MDS patients results in high rates of hematological recovery with improved survival, especially in young patients and in the presence of HLA-DR15 (16).…”

Section: Discussionmentioning

confidence: 99%

Association of myelodysplastic syndrome with CD5+, CD23+ monoclonal B-cell lymphocytosis

Sandes¹,

Chauffaille²,

Órfão³

et al. 2012

Clinics

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Section: Discussionmentioning

confidence: 99%

Association of myelodysplastic syndrome with CD5+, CD23+ monoclonal B-cell lymphocytosis

Sandes¹,

Chauffaille²,

Órfão³

et al. 2012

Clinics

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“…Median follow-up was 19 months (range: 2 to 36 months). Information concerning 8 of these 50 patients has been previously published (8)(9)(10)(11)(12)(13). The study was approved by the Institution's Ethics Committee and all patients signed an informed consent form.…”

Section: Methodsmentioning

confidence: 99%

“…I-FISH and G-banding were performed in 50 MDS patients at diagnosis and after 6 and 12 months, or whenever AML transformation was detected (8)(9)(10)(11)(12)(13).…”

Section: Introductionmentioning

confidence: 99%

Comparison of I-FISH and G-banding for the detection of chromosomal abnormalities during the evolution of myelodysplastic syndrome

Pinheiro

Chauffaille

2009

Braz J Med Biol Res

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Myelodysplastic syndrome (MDS) patients with a normal karyotype constitute a heterogeneous group from a biological standpoint and their outcome is often unpredictable. Interphase fluorescence in situ hybridization (I-FISH) studies could increase the rate of detection of abnormalities, but previous reports in the literature have been contradictory. We performed I-FISH and conventional karyotyping (G-banding) on 50 MDS patients at diagnosis, after 6 and 12 months or at any time if a transformation to acute myeloid leukemia (AML) was detected. Applying a probe-panel targeting the centromere of chromosomes 7 and 8, 5q31, 5p15.2 and 7q31, we observed one case with 5q deletion not identified by G-banding. I-FISH at 6 and 12 months confirmed the karyotype results. Eight cases transformed to AML during follow-up, but no hidden clone was detected by I-FISH in any of them. The inclusion of I-FISH during follow-up of MDS resulted in a small improvement in abnormality detection when compared with conventional G-banding

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“…Chromosomal aberrations are observed in 30% to 50% of MDS cases at diagnosis, and from 80% to 90% of secondary MDS. Chromosomes 5,7,8,11,13,17,20,21 and X are the most frequently involved. Chromosomal aberrations have an independent prognosis value and relate with clinical course and transformation.…”

Section: Introductionmentioning

confidence: 99%

“…As alterações cromossômicas são observadas em 30% a 50% dos casos de SMD primária, ao diagnóstico, e entre 80% e 90% das secundárias. Os cromossomos 5,7,8,11, 13, 17, 20, 21 e X são os mais freqüentemente envolvidos. As alterações cromossômicas são variáveis independentes de valor prognóstico e correlacionamse com o curso clínico da doença e com a transformação.…”

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Alterações cromossômicas em síndrome mielodisplásica

Chauffaille¹

2006

Rev. Bras. Hematol. Hemoter.

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O estudo das alterações cromossômicas em síndrome mielodisplásica (SMD) é de extrema importância porque auxilia no diagnóstico, prognóstico, classificação, acompanhamento evolutivo, escolha terapêutica e melhor entendimento da biologia da doença. As alterações cromossômicas são observadas em 30% a 50% dos casos de SMD primária, ao diagnóstico, e entre 80% e 90% das secundárias. Os cromossomos 5,7,8,11, 13, 17, 20, 21 e X são os mais freqüentemente envolvidos. As alterações cromossômicas são variáveis independentes de valor prognóstico e correlacionamse com o curso clínico da doença e com a transformação. Destacam-se como indicativos de bom prognóstico: cariótipo normal, nulissomia Y, del(5q), del(12p), del(11q) e del(20q) isoladas; como de prognóstico intermediário: trissomia 8, rearranjos envolvendo 3q21q26, translocações 11q, del(17p), trissomia 18 e trissomia 19; e como de prognóstico desfavorável: cariótipo complexo, monossomia 7, del(7q) e i(17q). Em relação à classificação, a Organização Mundial da Saúde tornou obrigatória a análise do cariótipo para a completa avaliação da SMD recém diagnosticada e definiu a síndrome 5q-como entidade específica. No tocante ao acompanhamento, alterações podem ser detectadas evolutivamente, definindo agressividade ou transformação da doença. Atualmente alguns tratamentos já são delineados com base nas alterações cromossômicas. Não se sabe se as alterações cromossômicas detectadas em SMD são eventos iniciais que levam ao desenvolvimento da doença (causa) ou se são apenas fenômenos secundários (conseqüência). De qualquer forma, elas apontam que, em nível molecular, há uma série de aspectos ainda por serem entendidos. Rev. bras. hematol. hemoter. 2006;28(3):182-187.Palavras-chave: Cromossomo; síndrome mielodisplásica; cariótipo, prognóstico. Professora adjunta, livre-docente,

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The 5q- syndrome and autoimmune phenomena: Report of three cases

Cited by 9 publications

References 12 publications

Association of myelodysplastic syndrome with CD5+, CD23+ monoclonal B-cell lymphocytosis

Association of myelodysplastic syndrome with CD5+, CD23+ monoclonal B-cell lymphocytosis

Comparison of I-FISH and G-banding for the detection of chromosomal abnormalities during the evolution of myelodysplastic syndrome

Alterações cromossômicas em síndrome mielodisplásica

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