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Arch Pathol Lab Med ; 130(4): 544-7, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16594749


A gradually enlarging axillary mass in a 79-year-old man was excised. The specimen was processed for light microscopy, immunohistochemical studies, and electron microscopy; gene rearrangement studies were also performed. A diagnosis of an interdigitating dendritic cell tumor of the lymph node and a B-cell small lymphocytic lymphoma occurring in the same anatomic location was made. We found that although rare cases of interdigitating dendritic cell tumor with an associated secondary malignancy have been described in the literature, to our knowledge, this is the first report of interdigitating dendritic cell tumor and synchronous neoplasm diagnosed at the same site. A possible relationship between the 2 disorders is also discussed.

Células Dendríticas/patologia , Leucemia Linfocítica Crônica de Células B/patologia , Neoplasias Primárias Múltiplas/patologia , Sarcoma/patologia , Idoso , Biomarcadores Tumorais/análise , Células Dendríticas/química , Evolução Fatal , Rearranjo Gênico de Cadeia Pesada de Linfócito B/genética , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Leucemia Linfocítica Crônica de Células B/química , Leucemia Linfocítica Crônica de Células B/genética , Linfonodos/química , Linfonodos/patologia , Masculino , Neoplasias Primárias Múltiplas/química , Sarcoma/química , Sarcoma/genética
Eur J Cancer ; 41(7): 1058-64, 2005 May.
Artigo em Inglês | MEDLINE | ID: mdl-15862756


Factors predictive of carrying MLH1 and MSH2 germline mutations in patients with colorectal cancer (CRC) are as yet unknown. The aim of this population-based study, was to further define the role of MLH1/MSH2 mutations through an evaluation clinic program with 362 consecutive Sardinian CRC patients. Eight MLH1/MSH2 germline mutations were detected in 21 (6%) patients. Examining family cancer history, MLH1/MSH2 mutations were found in 14/48 (29.2%) probands from CRC families and, among them, in 10/13 (76.9%) families fulfilling the Amsterdam criteria. The patients with low familial recurrence (two CRCs in the family) presented a much lower frequency of MLH1/MSH2 mutations (2/55; 3.6%). Significantly higher rates of MLH1/MSH2 mutations were found in patients with age of onset 45 years (P=0.012) or with 3 affected family members (P=0.009). While no significant predictive value was found for the presence of endometrial cancer within the family, earlier age of diagnosis and/or familial CRC recurrence should be considered as strong predictors for the occurrence of MLH1/MSH2 mutations, and therefore useful in recommending CRC patients for genetic testing.

Neoplasias Colorretais/genética , Proteínas de Ligação a DNA/genética , Mutação em Linhagem Germinativa/genética , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Proteínas Proto-Oncogênicas/genética , Proteínas Adaptadoras de Transdução de Sinal , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Proteínas de Transporte , Distribuição de Qui-Quadrado , Neoplasias Colorretais/epidemiologia , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS , Recidiva Local de Neoplasia/genética
Hum Pathol ; 36(2): 207-11, 2005 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15754299


Inflammatory pseudotumor (IPT) and follicular dendritic reticulum cell tumor (FDRCT) are rare entities of the lymph node characterized by spindle-cell proliferation. We report a case of a 31-year-old woman, who was admitted for biopsy of a lymph node in the left submandibular area. The microscopic examination revealed a proliferation of spindle cells, partially replacing the normal lymph node architecture, suggestive of an IPT. The preserved peripheral portion showed follicular hyperplasia with Castleman-like appearance. Six years later she presented with a new enlargement in the same submandibular area. The nodule was removed, and a diagnosis of a classic FDRCT of the lymph node was made. The present case is remarkable, and clinicopathological data show that IPT-like proliferations could be in some case an early presentation of FDRCT.

Células Dendríticas Foliculares/patologia , Granuloma de Células Plasmáticas/patologia , Neoplasias de Cabeça e Pescoço/patologia , Linfonodos/patologia , Linfoma Difuso de Grandes Células B/patologia , Complicações Neoplásicas na Gravidez/patologia , Adulto , Feminino , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Linfonodos/cirurgia , Linfoma Difuso de Grandes Células B/cirurgia , Gravidez
Hum Mutat ; 23(4): 318-26, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15024726


Allelic deletions, which are suggestive for the presence of tumor suppressor genes, represent a common event in endometrial cancer (EC). Previous loss-of-heterozygosity studies for human chromosome 10q identified a candidate deletion interval at 10q25-q26, which we further narrowed to a 160-kb region at 10q26, bounded by markers D10S1236 and WIAF3299. Using a positional candidate approach, we identified three alternative transcripts of a novel human gene, CASC2 (cancer susceptibility candidate 2; formely C10orf5). One of such transcripts, CASC2a, encodes a short protein of 102 amino acids with no similarity to any other known gene product. Three (7%) CASC2a mutations were identified in tumor DNA from 44 EC patients. While c.-156G>T and c.22C>T (p.Pro8Ser) are sequence variants with unknown functional significance, c.84delA is a mutation with a truncation effect on the predicted protein (p. Asn28fsX50). Expression studies by real-time RT-PCR on several normal and tumor cells revealed that CASC2a mRNA is downregulated in cancer, suggesting that it may act as a potential tumor suppressor gene. The very low mutation rate seems to also indicate that inactivation of CASC2a might probably be due to mechanisms different from genetic alterations.

Cromossomos Humanos Par 10 , Neoplasias do Endométrio/genética , Perda de Heterozigosidade , Proteínas Supressoras de Tumor/genética , Carcinoma/genética , Carcinoma/metabolismo , Linhagem Celular Tumoral , Análise Mutacional de DNA , Neoplasias do Endométrio/metabolismo , Feminino , Predisposição Genética para Doença , Humanos , RNA Mensageiro/metabolismo , Análise de Sequência , Distribuição Tecidual , Células Tumorais Cultivadas , Proteínas Supressoras de Tumor/metabolismo
Tumori ; 90(5): 510-3, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15656340


A case of angiotropic lymphoma involving renal glomeruli and interstitial vessels associated with nephrotic syndrome and with minor lesions in the glomerular basal membrane is reported. A 56-year-old woman had fever, weakness and clinical findings of a nephrotic syndrome with normal renal function. Renal biopsy revealed that the glomeruli were infiltrated by neoplastic lymphoid cells positive for CD20 and CD45; the glomerular basement membranes showed a pattern of minimal change disease. This case and our review of the literature suggest that the rare association of intravascular lymphoma and glomerular disease is more than coincidental.

Glomérulos Renais/patologia , Neoplasias Renais/complicações , Linfoma/complicações , Síndrome Nefrótica/complicações , Neoplasias Vasculares/complicações , Antígenos CD20/análise , Biomarcadores Tumorais/análise , Evolução Fatal , Feminino , Humanos , Glomérulos Renais/irrigação sanguínea , Neoplasias Renais/patologia , Antígenos Comuns de Leucócito/análise , Linfoma/patologia , Pessoa de Meia-Idade , Nefrose Lipoide/complicações , Síndrome Nefrótica/patologia , Pseudomonas aeruginosa , Choque Séptico/microbiologia , Neoplasias Vasculares/patologia