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1.
Mod Pathol ; 23(1): 71-9, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19838161

RESUMO

Follicular lymphomas with plasmacytic differentiation were described more than two decades ago. However, the possibility that some of these reported cases are marginal zone lymphomas or composite lymphomas must be considered. In addition, it is also uncertain whether follicular lymphomas with plasmacytic differentiation have any unique cytogenetic or other features. Therefore, fluorescence immunophenotypic and interphase cytogenetic analysis of 14 well-characterized follicular lymphomas with plasmacytic differentiation was performed using a CD138 antibody to identify the plasma cells and with BCL2, BCL6, IGH@ and MALT1 break-apart probes and a chromosome 12 centromeric probe. CD10 was expressed in 12/14 cases, BCL6 in 12/12 cases and BCL2 in 12/14 cases. At least one cytogenetic abnormality was identified in 12/14 cases. The same abnormality was present in both the plasmacytic (CD138+) and non-plasmacytic (CD138-) component in all 10 evaluable cases. BCL2 rearrangements were present in seven cases (5 IGH@ rearranged, 1 IGH@-not rearranged, 1 IGH@-not evaluable), BCL6 rearrangement in two (1 also with BCL2/IGH@ rearrangement), +12 in 1, +MALT1 without +18 in 1, IGH@ rearrangement without other abnormalities in 1 and IGH@ rearranged or partially deleted in 1 case. No cases showed +BCL6 (3q27) or a MALT1 rearrangement. All six cases with an isolated BCL2 rearrangement had predominantly interfollicular plasmacytic cells whereas, 6/7 cases without the translocation had concentrations of intrafollicular or perifollicular plasmacytic cells (P<0.005), as did the case with BCL2 and BCL6 translocations. These results support the existence of bona fide follicular lymphomas with plasmacytic differentiation and support the clonal relationship of the neoplastic lymphoid and plasma cells in at least most of these cases. The differential distribution of the plasma cells, specifically in relation to the presence or absence of an isolated BCL2 rearrangement suggests that the latter cases may be distinctive, sharing some features with marginal zone lymphomas.


Assuntos
Linfoma Folicular/genética , Linfoma Folicular/patologia , Plasmócitos/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Caspases/biossíntese , Caspases/genética , Diferenciação Celular , Proteínas de Ligação a DNA/biossíntese , Proteínas de Ligação a DNA/genética , Feminino , Rearranjo Gênico , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Imuno-Histoquímica , Imunofenotipagem , Hibridização in Situ Fluorescente , Linfoma Folicular/metabolismo , Masculino , Pessoa de Meia-Idade , Proteína de Translocação 1 do Linfoma de Tecido Linfoide Associado à Mucosa , Proteínas de Neoplasias/biossíntese , Proteínas de Neoplasias/genética , Neprilisina/biossíntese , Proteínas Proto-Oncogênicas c-bcl-2/biossíntese , Proteínas Proto-Oncogênicas c-bcl-2/genética , Proteínas Proto-Oncogênicas c-bcl-6
2.
J Reprod Med ; 47(6): 515-8, 2002 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12092025

RESUMO

BACKGROUND: Men with Y chromosome long arm deletions, resulting in infertility, form a very significant group of patients, with a view to treatment. With recent advances in assisted reproductive techniques, it is expected that if these patients undergo intracytoplasmic sperm injection, their male offspring will inherit the same deleted regions of Y chromosomes. Hence, characterization of these deleted Y regions provides information, allowing patients to make informed decisions about reproduction. Fluorescence in situ hybridization (FISH), with probes along the Y chromosome, is very helpful in identification of the exact breakpoints. CASES: Two men with complaints of infertility on examination showed low or no sperm in their semen samples. Routine cytogenetic analysis of the peripheral blood showed a small marker chromosome. This marker was identified as the Y chromosome by FISH. Subsequently, other probes along the Y long arm were used to characterize the extent of the deletion. CONCLUSION: With the use of fluorescence-labelled probes, it was possible to identify the extent of the Y chromosome deletion. The distal Yq11 region had been lost in both patients, resulting in oligospermia and azoospermia. Characterizing markers by FISH gave good guidelines to the patients about the possible effects on offspring, allowing them to make appropriate decisions.


Assuntos
Deleção Cromossômica , Hibridização in Situ Fluorescente/métodos , Oligospermia/diagnóstico , Oligospermia/genética , Injeções de Esperma Intracitoplásmicas , Cromossomo Y/genética , Adulto , Análise Citogenética , Marcadores Genéticos/genética , Testes Genéticos , Humanos , Cariotipagem , Masculino , Oligospermia/terapia , Contagem de Espermatozoides
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