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1.
Am J Dermatopathol ; 40(10): 721-726, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29570128

RESUMO

Adenoid cystic carcinoma (ACC) of the skin is a rare malignant neoplasm histologically identical to homonymous tumors in other organs. Cutaneous ACC has been found to harbor MYB gene activations, either through MYB chromosomal abnormalities or by generation of the MYB-NFIB fusion. In salivary gland ACC, in addition to the MYB gene, alterations in MYBL1, the gene closely related to MYB, have been reported. We studied 10 cases of cutaneous ACC (6 women, 4 men; and age range 51-83 years) for alterations in the MYB, NFIB, and MYBL1 genes, using FISH and PCR. MYB break-apart and NFIB break-apart tests were positive in 4 and 5 cases, respectively. MYB-NFIB fusions were found in 4 cases. The break of MYBL1 was found in 2 cases, and in one of them, the NFIB break-apart probe was positive, strongly indicating a MYBL1-NFIB fusion. In 2 cases, the MYB break-apart test was positive, whereas no MYB-NFIB was detected, strongly suggesting another fusion partner. It is concluded that MYBL1 alterations are detected in primary cutaneous ACC but are apparently less common compared with MYB and NFIB alterations.


Assuntos
Biomarcadores Tumorais/genética , Carcinoma Adenoide Cístico/genética , Proteínas Proto-Oncogênicas/genética , Neoplasias Cutâneas/genética , Transativadores/genética , Idoso , Idoso de 80 Anos ou mais , Carcinoma Adenoide Cístico/patologia , Feminino , Fusão Gênica , Rearranjo Gênico , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Fatores de Transcrição NFI/genética , Proteínas de Fusão Oncogênica/genética , Fenótipo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Neoplasias Cutâneas/patologia
2.
Am J Dermatopathol ; 39(5): 358-362, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28291131

RESUMO

Anogenital mammary-like glands (AGMLGs) are nowadays considered a normal component of the anogenital area. Lesions involving AGMLGs are histopathologically very similar to their mammary counterparts, but the information on molecular biological mechanisms in these vulvar/perianal tumors is scarce. Mutations in the PI3K-AKT cascade have been found in hidradenoma papilliferum. The authors studied selected BRCA1, BRCA2, and PIK3CA mutations in series of benign and malignant neoplasms thought to be associated with AGMLGs, including 9 cases of primary extramammary Paget disease, 3 different cases of mammary-type carcinoma (adenoid cystic like, tubulolobular, and invasive ductal like), and 5 cases of hidradenoma papilliferum. No BRCA mutation was detected, whereas 3 neoplasms yielded PIK3CA mutation, including extramammary Paget disease, mammary-type invasive ductal carcinoma, and tubulolobular carcinoma. Our study expands the spectrum of lesions of AGMLGs harboring mutations in genes encoding the PI3K-AKT cascade. Further studies of the whole BRCA1 and BRCA2 genes using a larger cohort are needed to clarify their role in the pathogenesis of AGMLG lesions.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Classe I de Fosfatidilinositol 3-Quinases/genética , Doença de Paget Extramamária/genética , Doença de Paget Extramamária/patologia , Idoso , Idoso de 80 Anos ou mais , Neoplasias do Ânus/genética , Neoplasias do Ânus/patologia , Biópsia por Agulha , Estudos de Coortes , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Imuno-Histoquímica , Glândulas Mamárias Humanas/patologia , Pessoa de Meia-Idade , Mutação , Prognóstico , Estudos Retrospectivos , Medição de Risco , Neoplasias Vulvares/genética , Neoplasias Vulvares/patologia
3.
Am J Dermatopathol ; 38(11): 802-808, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26863064

RESUMO

Extramammary Paget disease (EMPD) is a rare neoplasm usually presenting in the anogenital area, most commonly in the vulva. Adnexal involvement in primary EMPD is a very common feature and serves as a pathway for carcinoma to spread into deeper tissue. The depth of carcinomatous spread along the appendages and the patterns of adnexal involvement were studied in 178 lesions from 146 patients with primary EMPD. Hair follicles and eccrine ducts were the adnexa most commonly affected by carcinoma cells. The maximal depth of involvement was 3.6 mm in this series. When planning topical therapy or developing novel local treatment modalities for EMPD, this potential for significant deep spread along adnexa should be taken into account.


Assuntos
Neoplasias do Ânus/patologia , Glândulas Écrinas/patologia , Folículo Piloso/patologia , Neoplasias de Anexos e de Apêndices Cutâneos/patologia , Doença de Paget Extramamária/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Neoplasias Vulvares/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias do Ânus/terapia , Biópsia , Europa (Continente) , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias de Anexos e de Apêndices Cutâneos/terapia , Doença de Paget Extramamária/terapia , Prognóstico , Neoplasias das Glândulas Sudoríparas/terapia , Neoplasias Vulvares/terapia , Austrália Ocidental
4.
Am J Dermatopathol ; 36(10): 847-52, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23563252

RESUMO

: The authors present 2 cases of a subcutaneous biphasic synovial sarcoma with marked apocrine differentiation that potentially may be confused with cutaneous epithelial neoplasms, including malignant apocrine mixed tumor or metaplastic carcinoma with an apocrine glandular component. Microscopically, both neoplasms had a biphasic architecture with the epithelial and spindle cell components. The epithelial component was prominent and consisted of simple glands with round lumina and complex glandular structures with intraluminal bridges forming cribriform areas. The glands were lined by cuboidal to columnar cells with eosinophilic or clear cytoplasm manifesting apical apocrine-like and intraluminal eosinophilic secretions. The spindle cell component was less prominent and was composed of relatively uniform or slightly atypical spindle sells surrounding and merging focally with the glandular structures. Immunohistochemically, the tumor cells in both components were positive for vimentin, AE1/AE3, CK7, and epithelial membrane antigen. Desmin, smooth muscle actin, muscle-specific actin, CD34, and S-100 protein were all negative. SYT-SSX1 gene fusion using fluorescence in situ hybridization and RT-PCR methods was detected in both cases.


Assuntos
Sarcoma Sinovial/patologia , Neoplasias de Tecidos Moles/patologia , Glândulas Apócrinas/patologia , Biomarcadores Tumorais/análise , Diferenciação Celular , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Proteínas de Fusão Oncogênica/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Sarcoma Sinovial/genética , Neoplasias de Tecidos Moles/genética
5.
Int J Clin Exp Pathol ; 15(10): 403-411, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36381422

RESUMO

The phenotype of tumor-associated macrophages may be critical for tumor immunity, angiogenesis, and clinical disease outcome. Here, we elucidated the prognostic significance of the neovasculature and macrophages in colorectal cancer. We analyzed the effect of M2 macrophage density on the clinical behavior of 151 primary colorectal carcinomas using CD206 as a marker for type 2 macrophages. Triple immunohistochemical staining (ERG, SMA, and podoplanin) was used for microvessel evaluation. We found that M2 macrophages in colorectal cancer did not have a direct association with metastatic behavior. However, high numbers of CD206 tumor-associated macrophages correlated positively with recurrence-free interval duration (P=0.005). Fewer macrophages in the tumor microenvironment resulted in insufficient coverage of newly formed vessels by pericytes (P=0.011), and a high number of pericyte-impaired microvessels correlated with metastatic behavior (P<0.001). These results suggested that type 2 macrophages had a role in limiting the metastatic process by affecting vascular maturity and normalization. These findings contribute to understanding complex interactions in the tumor microenvironment and the clinical behavior of colorectal cancer.

7.
Int J Surg Pathol ; 27(5): 483-491, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30854907

RESUMO

Urothelial cancer is a heterogeneous disease with different molecular pathways that produce distinct molecular subtypes with specific characteristics and patient survival outcomes that require different therapeutic methods. Urothelial tumors in young patients appear to have distinct genetic features compared with their counterparts in older patients. Using a Lund subtype-specific immunohistochemistry panel, we performed molecular subtype profiling of an urothelial carcinoma case series (n = 49) in patients younger than 45 years of age. We demonstrate that the urothelial carcinoma in young patients tends to be of molecular urothelial-like A subtype (80%) and is associated with favorable, recurrent-free survival (P = .022). In the urothelial-like cluster, we identified a portion of patients (10%) with high-grade non-muscle-invasive cancers (so-called urothelial-like D type) that showed significantly higher levels of squamous differentiation and p16, E2F3, and ki67 expression in addition to aberrant expression of Ck20 and a trend toward lower recurrent-free survival (P = .057). Segregation of the cohort according to the decade of occurrence revealed that all tumors (n = 8) of patients younger than 30 years were clearly classified as urothelial-like A subtype. Statistically more aggressive molecular subtypes, such as urothelial-like D and basal/squamous-like (6%) subtypes, were identified in patients older than 30 years of age. Genomically unstable (2%) and mesenchymal-like (2%) subtypes were classified in the 40- to 44-year age group only. These data suggest that more aggressive molecular subtypes of bladder carcinoma appear and become more frequent with age. Further investigations are needed to validate this hypothesis.


Assuntos
Biomarcadores Tumorais/análise , Carcinoma de Células de Transição/patologia , Neoplasias da Bexiga Urinária/patologia , Bexiga Urinária/patologia , Urotélio/patologia , Adulto , Fatores Etários , Carcinoma de Células de Transição/mortalidade , Intervalo Livre de Doença , Feminino , Seguimentos , Humanos , Masculino , Prognóstico , Estudos Retrospectivos , Análise de Sobrevida , Neoplasias da Bexiga Urinária/mortalidade , Adulto Jovem
8.
Monoclon Antib Immunodiagn Immunother ; 38(1): 12-17, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30657411

RESUMO

CHID1 has been recently described as a predictive marker of different malignant tumors. Thus, monoclonal antibodies (mAbs) for CHID1 detection in different human liquids and in tissues are an important tool for the diagnosis of CHID1-positive cancers. However, only few mAbs have been established to date. In this study we describe the generation of a new hybridoma clone 3D4 producing anti-CHID1 antibodies. 3D4 mAb specifically binds human CHID1 and was successfully used in enzyme-linked immunosorbent assay, immunoblotting, immunofluorescence on paraformaldehyde-fixed cells, and in immunohistochemistry of paraffin-embedded tissue specimens. These results indicate that this new anti-CHID1 mAb 3D4 will be useful in the diagnosis of CHID1-related cancers and is a strong tool for both basic and clinical research on chitinase-like proteins.


Assuntos
Anticorpos Monoclonais/imunologia , Proteínas de Transporte/imunologia , Quitinases/imunologia , Neoplasias/imunologia , Animais , Anticorpos Monoclonais/biossíntese , Anticorpos Monoclonais/farmacologia , Proteínas de Transporte/genética , Linhagem Celular Tumoral , Quitinases/genética , Ensaio de Imunoadsorção Enzimática/métodos , Formaldeído , Humanos , Hibridomas/imunologia , Imuno-Histoquímica/métodos , Camundongos , Neoplasias/diagnóstico , Inclusão em Parafina
9.
Virchows Arch ; 452(1): 109-11, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18066589

RESUMO

We present an extremely rare case of a benign cystic ovarian teratoma with structures of male accessory sexual glands. The patient was a 30-year-old woman. A unilocular cystic tumor, measuring 5 cm in the largest diameter, was found in her right ovary and was removed. The teratoma contained epidermis, skin appendages, respiratory and intestinal epithelia, cartilage, muscle, and nervous and connective tissue. In addition to these histologically mature tissues, there were nodules with prostatic acini, prostate duct-like structures strongly positive for prostate-specific antigen and acid prostatic phosphatase, structures resembling Cowper's glands, and seminal vesicles surrounded by fibromuscular stroma. To our knowledge, this is the first case in the English literature describing seminal vesicles associated with prostatic tissue and bulbo-urethral glands in a mature ovarian teratoma.


Assuntos
Glândulas Bulbouretrais/patologia , Neoplasias Ovarianas/patologia , Próstata/patologia , Glândulas Seminais/patologia , Teratoma/patologia , Fosfatase Ácida , Adulto , Glândulas Bulbouretrais/química , Feminino , Humanos , Masculino , Neoplasias Ovarianas/química , Neoplasias Ovarianas/cirurgia , Próstata/química , Antígeno Prostático Específico/análise , Proteínas Tirosina Fosfatases/análise , Glândulas Seminais/química , Teratoma/química , Teratoma/cirurgia , Resultado do Tratamento
10.
Int J Surg Pathol ; 26(4): 364-369, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29254456

RESUMO

Primary extraspinal myxopapillary ependymoma (MPE) is an exceptionally rare lesion that is mainly located in the subcutaneous sacrococcygeal region. We describe the first case of MPE that presented as an intramuscular tumor mass located in the lumbar area. Absence of the visible connection with the spinal cord and lack of any other tumors in the reported case argue for the primary ectopic origin of the MPE. The differential diagnosis of MPE is discussed. Additionally, we evaluated the expression level of molecular biomarkers that have a prognostic value in central nervous system tumors.


Assuntos
Ependimoma/genética , Ependimoma/patologia , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Adolescente , Feminino , Humanos , Região Lombossacral , Transcriptoma
11.
Virchows Arch ; 450(1): 119-21, 2007 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17123108

RESUMO

We present two cases of cotyledonoid dissecting leiomyoma of the uterus with intravascular involvement, which occurred in women aged 73 and 48 years. Grossly and microscopically, both neoplasms had an extrauterine cotyledonoid part and intrauterine dissecting fascicles of disorganized, swirled neoplastic smooth muscle with hydropic degeneration and foci of an intravascular growth (the latter was identified histologically). To our knowledge, the intravascular component of such a neoplasm is a very rare feature that has previously been described only in three cases in the literature.


Assuntos
Leiomioma/patologia , Neoplasias Uterinas/patologia , Idoso , Feminino , Humanos , Leiomioma/ultraestrutura , Pessoa de Meia-Idade , Neoplasias Uterinas/ultraestrutura
12.
Int J Surg Pathol ; 25(6): 563-566, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28449606

RESUMO

Only 28 cases of pseudomyxoma peritonei (PMP) arising from urachal neoplasms have been reported. We report one example of this extremely rare disease with KRAS mutational status in its spectrum of pathology. A 45-year-old woman presented with urachal frankly invasive mucinous cystadenocarcinoma confined to the dome of the bladder, which clinically manifested as PMP and was not detected at the first surgery. The primary tumour was revealed 6 months later because of its recurrence as PMP. Microscopic investigation revealed tubular adenoma and cystadenocarcinoma communicating with the bladder lumen and transitioning from the urachal urothelium to the mucinous epithelium. A urachal remnant was identified near the neoplasm. On immunohistochemistry, the tumour proved positive for CK7, CK20, CEA, and CDX2. Staining for ß-catenin revealed expression in both the cytoplasm and cell membrane. Mismatch repair protein expression was normal. Somatic KRAS-mutation (G12V) was revealed in tubular adenoma, cystadenocarcinoma, and mucinous carcinoma peritonei and may play an oncogenic role in the malignant transformation of urachal mucosa and the development of PMP.


Assuntos
Adenocarcinoma/patologia , Cistadenocarcinoma Mucinoso/patologia , Neoplasias Peritoneais/etiologia , Pseudomixoma Peritoneal/etiologia , Neoplasias da Bexiga Urinária/patologia , Adenocarcinoma/complicações , Adenocarcinoma/genética , Cistadenocarcinoma Mucinoso/complicações , Cistadenocarcinoma Mucinoso/genética , Feminino , Humanos , Pessoa de Meia-Idade , Mutação , Neoplasias Peritoneais/patologia , Proteínas Proto-Oncogênicas p21(ras)/genética , Pseudomixoma Peritoneal/patologia , Neoplasias da Bexiga Urinária/complicações , Neoplasias da Bexiga Urinária/genética
13.
Am J Surg Pathol ; 41(8): 1053-1058, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28614205

RESUMO

To determine whether a subset of primary extramammary Paget disease (EMPD) may originate in anogenital mammary-like glands (AGMLG), the authors studied 181 specimens of EMPD, detailing alterations in AGMLG. The latter were identified in 33 specimens from 31 patients. All patients were women, ranging in age from 38 to 93 years (median, 65 y). In all cases, lesions involved the vulva and in 1 patient the perianal skin was affected. Histopathologically, AGMLG manifested changes identical to columnar cell change (CCC) (87.1%), usual ductal hyperplasia (22.6%), columnar cell hyperplasia (CCH) (9.7%), oxyphilic (apocrine) metaplasia (6.5%), and atypical duct hyperplasia (3.2%). Four cases (12.9%), in addition to intraepidermal carcinoma, harbored invasive carcinoma. In all 4 of these, AGMLG displayed a range of alterations including ductal carcinoma in situ, CCC, and CCH. Three further cases (9.7%) showed ductal carcinoma in situ without any definite invasive carcinoma. Colonization of AGMLG by neoplastic Paget cells was noted in 6 cases. As CCC and CCH may be encountered in normal AGMLG, these alterations are unlikely to play a significant role in the pathogenesis of the disease. However, by analogy with mammary Paget disease, rare cases of primary EMPD may originate in AGMLG with a subsequent upward migration of the neoplastic cells into the epidermis and possible later breach through the basal membrane. Usual ductal hyperplasia and atypical duct hyperplasia can then be regarded as earlier precursor lesions, linking both ends of the spectrum.


Assuntos
Canal Anal/patologia , Neoplasias do Ânus/etiologia , Neoplasias do Ânus/patologia , Doença de Paget Extramamária/etiologia , Doença de Paget Extramamária/patologia , Vulva/patologia , Neoplasias Vulvares/etiologia , Neoplasias Vulvares/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Pessoa de Meia-Idade
14.
Virchows Arch ; 448(2): 232-5, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16447065

RESUMO

We present a further case of a rare mesenchymal neoplasm termed phosphaturic mesenchymal tumor (mixed connective tissue variant). The patient was a 42-year-old man with a long history of osteomalacia of unknown etiology with pathological bone fracture, abnormality of parathyroid glands, kyphosis, scoliosis, and spondylosis. Laboratory investigation disclosed hypophosphatemia, elevated serum alkaline phosphatase activity, and normal serum calcium level. The patient had a soft tissue mass in the right inguinal area, measuring 11 x 6 x 5 cm, which was previously interpreted as a calcified hematoma on sonography. The tumor was surgically removed. Grossly, the tumor was well circumscribed, unencapsulated, and had soft to dense consistency. The cut surface had a variegated appearance due to the presence of large hemorrhagic areas admixed with foci of grey-yellow tissue. Histologically, the tumor was composed of primitive mesenchymal cells, osteoclast-like cells, and cells showing myofibroblastic features without cytologic atypia. There were a well developed vascular network, microcystic areas, and poorly formed cartilaginous foci. Unusual and hitherto unpublished prominent features were flower-like, slate-gray crystals, widespread hemosiderin deposits and large areas of hemorrhages, with the latter comprising approximately 60% of the tumor. A spectral analysis indicated that chemically, the crystals mainly consisted of calcium phosphate and sodium nitrate.


Assuntos
Mesenquimoma/patologia , Neoplasias de Tecidos Moles/patologia , Adulto , Fosfatase Alcalina/sangue , Cálcio/sangue , Fosfatos de Cálcio/análise , Humanos , Hipofosfatemia/sangue , Masculino , Mesenquimoma/sangue , Mesenquimoma/ultraestrutura , Microscopia Eletrônica , Nitratos/análise , Neoplasias de Tecidos Moles/sangue , Neoplasias de Tecidos Moles/ultraestrutura , Espectrometria por Raios X
15.
Int J Surg Pathol ; 14(4): 320-5, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17041195

RESUMO

Eleven schwannomas are described. All tumors were well demarcated and surrounded by a true capsule or pseudocapsule and manifested Antoni A and Antoni B areas, Verocay bodies, and hyalinized vessels. In addition to typical schwannoma, there were clear cell areas composed of spindled cells arranged either in parallel sheets or in loops within the myxoid matrix, morphologically identical to retiform (reticular) perineurioma. The Schwann cells in the conventional schwannomatous areas displayed typical ultrastructural features. Those comprising the perineurioma-like areas revealed a primitive morphology. They were slender or polygonal and were devoid of an external lamina, pinocytic vesicles, or junctions. These findings suggest that the perineurioma-like areas consist of primitive or modified Schwann cells, or, alternatively, these perineurioma-like areas represent true, but incomplete perineurial differentiation within otherwise ordinary benign schwannomas. These neoplasms represent a morphologic variant of schwannoma having distinctive perineurial-like areas, a pattern which may elicit diagnostic difficulties.


Assuntos
Neoplasias de Bainha Neural/patologia , Neurilemoma/patologia , Adulto , Idoso , Antígenos CD34/genética , Antígenos CD34/metabolismo , Claudina-1 , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Masculino , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Pessoa de Meia-Idade , Mucina-1/genética , Mucina-1/metabolismo , Neoplasias de Bainha Neural/genética , Neoplasias de Bainha Neural/metabolismo , Neoplasias de Bainha Neural/ultraestrutura , Neurilemoma/genética , Neurilemoma/metabolismo , Neurilemoma/ultraestrutura , Proteínas S100/genética , Proteínas S100/metabolismo
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