RESUMO
Merkel cell carcinoma (MCC) is an aggressive skin cancer frequently caused by genomic integration of the Merkel cell polyomavirus (MCPyV). MCPyV-negative cases often present as combined MCCs, which represent a distinctive subset of tumors characterized by association of an MCC with a second tumor component, mostly squamous cell carcinoma. Up to now, only exceptional cases of combined MCC with neuroblastic differentiation have been reported. Herein we describe two additional combined MCCs with neuroblastic differentiation and provide comprehensive morphologic, immunohistochemical, transcriptomic, genetic and epigenetic characterization of these tumors, which both arose in elderly men and appeared as an isolated inguinal adenopathy. Microscopic examination revealed biphasic tumors combining a poorly differentiated high-grade carcinoma with a poorly differentiated neuroblastic component lacking signs of proliferation. Immunohistochemical investigation revealed keratin 20 and MCPyV T antigen (TA) in the MCC parts, while neuroblastic differentiation was confirmed in the other component in both cases. A clonal relation of the two components can be deduced from 20 and 14 shared acquired point mutations detected by whole exome analysis in both combined tumors, respectively. Spatial transcriptomics demonstrated a lower expression of stem cell marker genes such as SOX2 and MCM2 in the neuroblastic component. Interestingly, although the neuroblastic part lacked TA expression, the same genomic MCPyV integration and the same large T-truncating mutations were observed in both tumor parts. Given that neuronal transdifferentiation upon TA repression has been reported for MCC cell lines, the most likely scenario for the two combined MCC/neuroblastic tumors is that neuroblastic transdifferentiation resulted from loss of TA expression in a subset of MCC cells. Indeed, DNA methylation profiling suggests an MCC-typical cellular origin for the combined MCC/neuroblastomas. © 2024 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
Assuntos
Antígenos Virais de Tumores , Carcinoma de Célula de Merkel , Transdiferenciação Celular , Poliomavírus das Células de Merkel , Neoplasias Cutâneas , Humanos , Carcinoma de Célula de Merkel/patologia , Carcinoma de Célula de Merkel/virologia , Carcinoma de Célula de Merkel/genética , Carcinoma de Célula de Merkel/metabolismo , Masculino , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/virologia , Neoplasias Cutâneas/metabolismo , Antígenos Virais de Tumores/genética , Antígenos Virais de Tumores/metabolismo , Poliomavírus das Células de Merkel/genética , Pontos de Checagem do Ciclo Celular/genética , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Idoso de 80 Anos ou mais , Idoso , Neoplasias Complexas Mistas/patologia , Neoplasias Complexas Mistas/genética , Neoplasias Complexas Mistas/metabolismo , Neuroblastoma/patologia , Neuroblastoma/genética , Neuroblastoma/metabolismoRESUMO
Salivary hybrid carcinoma (HC) is defined as when two or more kinds of carcinoma exist at the same location in a single mass. We reestimated and examined three cases of salivary gland HC. Case 1 involved a 76-year-old male. Case 2 involved a 74-year-old female. Case 3 involved a 66-year-old male. Histologically, case 1 involved a combination of salivary duct carcinoma (SDC) and squamous cell carcinoma (SqCC). Immunohistochemically, the former was positive for gross cystic disease fluid protein (GCDFP)-15 and androgen receptor (AR). Case 2 involved a combination of SqCC and neuroendocrine carcinoma. Immunohistochemically the latter was positive for synaptophysin and neural cell adhesion molecule (NCAM). Case 3 involved a combination of SDC and epithelial-myoepithelial carcinoma (EMC). Immunohistochemically, the former was positive for GCDFP-15 and AR, whereas the inner cells of the latter were positive for cytokeratin 7, and the outer cells of the latter were positive for actin. Because of the transitional zone between SDC and EMC, it was speculated that high-grade SDC arose from low-grade EMC.
Assuntos
Biomarcadores Tumorais/metabolismo , Carcinoma/patologia , Neoplasias Complexas Mistas/patologia , Neoplasias Parotídeas/patologia , Idoso , Carcinoma/diagnóstico , Carcinoma/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Masculino , Neoplasias Complexas Mistas/diagnóstico , Neoplasias Complexas Mistas/metabolismo , Neoplasias Parotídeas/diagnóstico , Neoplasias Parotídeas/metabolismoRESUMO
The term meningioma-like tumor of the skin (MLTS) was coined in 1993 to designate a particular whorled spindle cell superficial cutaneous tumor. No additional confirmed cases of this entity have been reported to date. Some authors have speculated that these cases might be cellular neurothekeomas. In order to delineate the histologic spectrum and the immunophenotype of this unusual tumor, we studied 5 cases, 2 previously unreported and the 3 original cases. The immunohistochemical findings of case 5, however, were limited to those from the original study. Clinically, the tumor presented as a reddish papule, plaque, or nodule, located in the extremities or trunk. The patient often referred to a recent growth of a longstanding lesion. Histologically, the characteristic whorled spindle and stellate dendritic cell population, commonly in a perivascular arrangement, and variable myxoid component, were consistently found in all cases. A prominent microvasculature was also a constant finding. The presence of large deciduoid cells was conspicuous in one case. A reticular pattern of multivacuolated cells giving a chordoma-like appearance was evident in another case. Tumor cells were diffusely positive for CD34 in all 4 cases studied, and negative for S-100, EMA, NKI-C3, CD68, and smooth muscle markers. No complete loss of retinoblastoma protein was found. No brachyury immunostaining was found in the case with chordoid features. No EWSR1 or NAB2-STAT6 gene fusions were found. From these findings, we demonstrate that MLTS is a distinct CD34 spindle cell benign dermal tumor, unrelated to cellular neurothekeoma, and exhibiting myxoid, deciduoid, or chordoma-like features.
Assuntos
Antígenos CD34/metabolismo , Biomarcadores Tumorais/metabolismo , Neoplasias Complexas Mistas/patologia , Neoplasias Cutâneas/patologia , Adulto , Idoso , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias Complexas Mistas/diagnóstico , Neoplasias Complexas Mistas/metabolismo , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/metabolismoRESUMO
Malignant rhabdoid tumors (MRT; atypical teratoid/rhabdoid tumor [ATRT] in the central nervous system) are aggressive tumors in infants and children which can overlap with other sarcomas, such as synovial sarcoma (SS). The gold standard for SS diagnosis is characterization of the t(X;18) chromosomal translocation. However, stratification of cases for molecular analysis is not always straightforward or feasible. Recent literature suggests transducer-like enhancer of split 1 (TLE1) protein expression may distinguish SS from certain histologic mimics; however, this has not been investigated in MRT and ATRT. We stained whole-tissue sections of 18 archived cases of MRT and ATRT with TLE1. Nuclear expression was scored using a 4-tiered (0, 1+, 2+, and 3+) scale describing staining intensity, extent, or combination of both. The majority of MRT and ATRT cases showed some TLE1 immunoreactivity (n = 16; 89% for ≥1 + staining); 14 (78%) of total cases showed ≥2 + positivity using any of the 3 scoring systems. Over half (n = 10; 56%) of cases showed ≥2 + staining; 4 (22%) cases showed 3 + strong and diffuse TLE1 staining measured by all scoring systems in agreement. Although still of potential use, we urge caution in the interpretation of TLE1 when the differential diagnosis includes both SS and MRT or ATRT.
Assuntos
Biomarcadores Tumorais/metabolismo , Neoplasias Complexas Mistas/diagnóstico , Proteínas Repressoras/metabolismo , Tumor Rabdoide/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico , Teratoma/diagnóstico , Adolescente , Criança , Pré-Escolar , Proteínas Correpressoras , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Neoplasias Complexas Mistas/metabolismo , Tumor Rabdoide/metabolismo , Neoplasias de Tecidos Moles/metabolismo , Teratoma/metabolismoAssuntos
Carcinoma de Células Escamosas/diagnóstico por imagem , Transportador de Glucose Tipo 1/biossíntese , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Complexas Mistas/diagnóstico por imagem , Papiloma/diagnóstico por imagem , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/patologia , Feminino , Fluordesoxiglucose F18 , Humanos , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/patologia , Pessoa de Meia-Idade , Neoplasias Complexas Mistas/metabolismo , Neoplasias Complexas Mistas/patologia , Papiloma/metabolismo , Papiloma/patologia , Tomografia por Emissão de Pósitrons/métodosRESUMO
Hepatocellular carcinomas can be further divided into distinct subtypes that provide important clinical information and biological insights. These subtypes are distinct from growth patterns and are on based on morphologic and molecular findings. There are 12 reasonably well-defined subtypes as well as 6 provisional subtypes, together making up 35% of all hepatocellular carcinomas. These subtypes are discussed, with an emphasis on their definitions and the key morphologic findings.
Assuntos
Carcinoma Hepatocelular/patologia , Carcinoma Neuroendócrino/patologia , Carcinossarcoma/patologia , Colangiocarcinoma/patologia , Neoplasias Hepáticas/patologia , Neoplasias Complexas Mistas/patologia , Carcinoma Hepatocelular/genética , Carcinoma Hepatocelular/metabolismo , Carcinoma Neuroendócrino/metabolismo , Carcinossarcoma/genética , Carcinossarcoma/metabolismo , Colangiocarcinoma/metabolismo , Fígado Gorduroso/patologia , Células Gigantes/patologia , Fator Estimulador de Colônias de Granulócitos/metabolismo , Humanos , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/metabolismo , Linfócitos do Interstício Tumoral/patologia , Tipagem Molecular , Neoplasias Complexas Mistas/genética , Neoplasias Complexas Mistas/metabolismoRESUMO
Mixed endometrial stromal and smooth muscle tumor of the uterus is a rare occurrence, and it is truly challenging to diagnose or dif- ferentiate mesenchymal tumors of the uterine corpus, due to their many overlapping features. In most cases, the gross pathology of mixed endometrial stromal and smooth muscle tumor differs from that of pure endometrial stromal and pure smooth muscle tumors. A 59-year-old postmenopausal woman presented with vaginal spotting, low abdominal pain, and an uterine mass. Subsequent pelvic magnetic resonance imaging revealed a 4.0x3.8x3.4-cm sized uterine mass with enhancement. The mass showed restricted diffusion on diffusion-weighted images, and thus, was suspected to be uterine sarcoma rather than degenerative leiomyoma. Levels of tumor markers, CA 125, CA 19-9, and SCC, were within their normal ranges. The patient underwent exploratory laparotomy. Morphological and immunohistochemical evaluations were performed, and a final diagnosis of mixed endometrial stromal and smooth muscle tumor of the uterus was rendered. Her postoperative course was uneventful, and aromatase inhibitor adjuvant therapy was administered.
Assuntos
Neoplasias do Endométrio/patologia , Tumores do Estroma Endometrial/patologia , Neoplasias Complexas Mistas/patologia , Tumor de Músculo Liso/patologia , Desmina/metabolismo , Neoplasias do Endométrio/metabolismo , Tumores do Estroma Endometrial/metabolismo , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Complexas Mistas/metabolismo , Neprilisina/metabolismo , Tumor de Músculo Liso/metabolismoRESUMO
We report a case of ductulo-insular pancreatic endocrine tumor (DI-PET) in a 50-year-old woman. The patient presented with symptoms and signs of hypoglycemia, and a small tumor in the uncus of the pancreas was extirpated. The tumor predominantly consisted of a neuroendocrine tumor (NET) of grade 2, which surrounded a minor component of ductular proliferation accompanied by a desmoplastic stroma. Both components were largely juxtaposed but admixed with each other in small areas. The NET component was immunoreactive for insulin and accompanied by the marked deposition of amyloid in the stroma. The ductular component consisted of a haphazard proliferation of ductules showing mildly atypical cytological features and immunoreactivities for cytokeratins 7 and 19. DI-PET is a rare composite neoplasm that should be distinguished from mixed ductal-neuroendocrine carcinoma because of the marked differences in treatment modalities and prognoses between the tumors. DI-PET associated with stromal amyloid deposition has not been reported to date. The 'transdifferentiation' of NET cells into ductular cells is considered as the most plausible histogenetic mechanism of this tumor, although other possibilities, such as an origin from a primitive endodermal stem cell or the induction of ductular proliferation by stimulation with NET-derived humoral factors, cannot be excluded.
Assuntos
Amiloide/metabolismo , Neoplasias Complexas Mistas/patologia , Tumores Neuroendócrinos/patologia , Neoplasias Pancreáticas/patologia , Biomarcadores Tumorais/análise , Feminino , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Neoplasias Complexas Mistas/metabolismo , Ductos Pancreáticos/patologia , Neoplasias Pancreáticas/metabolismoRESUMO
Papillary glioneuronal tumor (PGNT) is a rare type of primary brain tumor. Although PGNT has traditionally been defined as a clinically indolent neoplasm, several cases with high proliferative activity and tumor recurrence have recently been reported. We report a case of PGNT in a 12-year-old boy who presented with epilepsy and harbored a 64 mm cystic tumor with a high proliferative component in the right temporal lobe. (11) C-methionine positron emission tomography (PET) showed high uptake in the solid mass. Gross total resection of the tumor mass was achieved and the patient became seizure-free without any neurological deficits. Histologically, the tumor contained two distinct areas of a vasocentric papilliform structure and a desmoplastic component. Minigemistocytic cells and small necrotic regions were observed adjacent to the pseudopapillae. Immunohistochemical analyses revealed both glial and neuronal differentiation. The Ki-67 proliferation index was high (14%) in the area corresponding to the high uptake region in the (11) C-methionine PET. No tumor recurrence was observed 20 months after surgery. High proliferative PGNTs are rare and to our knowledge this is only the third pediatric case of PGNT with atypical features reported in the literature. Hence, we here review the reported cases of PGNT and discuss the clinical, radiological and histological features of this malignancy.
Assuntos
Neoplasias Encefálicas/patologia , Neoplasias Complexas Mistas/patologia , Astrocitoma/diagnóstico por imagem , Astrocitoma/metabolismo , Astrocitoma/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/metabolismo , Radioisótopos de Carbono , Carcinoma Papilar/diagnóstico por imagem , Carcinoma Papilar/metabolismo , Carcinoma Papilar/patologia , Proliferação de Células , Criança , Humanos , Imageamento por Ressonância Magnética , Masculino , Neoplasias Complexas Mistas/diagnóstico por imagem , Neoplasias Complexas Mistas/metabolismo , Tomografia por Emissão de PósitronsRESUMO
Recently, Chung et al. have reported the detailed clinicopathological features of an extremely rare case sharing similar histopathological characteristics with fibroadenomas, phyllodes tumours, intraductal papillomas or ductal adenomas, given the name of intraductal fibroadenomatosis, as an unusual variant of intracanalicular fibroadenoma. Herein we demonstrated a very unusual case of intraductal fibroadenoma of the breast with admixture of components of intracanalicular type fibroadenoma or benign phyllodes tumour and a smaller amount of intraductal papilloma, occupying the one duct and some adjacent ductules, presenting as a well-demarcated nodule.
Assuntos
Fibroadenoma/patologia , Neoplasias Complexas Mistas/patologia , Mamilos/patologia , Papiloma Intraductal/patologia , Tumor Filoide/patologia , Biomarcadores Tumorais/análise , Criança , Feminino , Fibroadenoma/metabolismo , Humanos , Imuno-Histoquímica , Glândulas Mamárias Humanas/patologia , Neoplasias Complexas Mistas/metabolismo , Papiloma Intraductal/metabolismo , Tumor Filoide/metabolismoRESUMO
A 48-year-old woman presented with left abdominal pain and fullness. Computed tomography scan revealed a multicystic mass with multifocal mural nodules. Histologic examination showed a mucinous cystic tumor with cystadenoma, borderline malignant cystadenoma and cystadenocarcinoma, which were associated with sarcoma-like mural nodules (SLMNs) and multifocal anaplastic carcinoma. Mural nodules showed a positive reaction for CD56 and vimentin, but were negative for cytokeratin 7 and SMA. She underwent postoperative chemotherapy and is currently under follow-up; no recurrence or metastases were found in the first year of follow-up. Ovarian mucinous cystic tumor with SLMNs and foci of anaplastic carcinoma is extremely rare. To our knowledge, this case reports the most complex neoplastic and reactive components. Our findings shed some light on the pathogenesis of this rather rare carcinoma. We think that the formation of SLMNs may be the result of the reactive proliferation of undifferentiated mesenchymal cells, while the anaplastic carcinoma may be derived from mucinous epithelium. Moreover, because of difficulties encountered in their differential diagnosis, we think that the existence of foci of anaplastic carcinoma along with SLMNs necessitates careful histologic and immunohistochemical analysis of mural nodules for the determination of treatment and prognosis.
Assuntos
Adenocarcinoma Mucinoso/patologia , Carcinoma/patologia , Neoplasias Complexas Mistas/patologia , Neoplasias Ovarianas/patologia , Adenocarcinoma Mucinoso/metabolismo , Carcinoma/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Neoplasias Complexas Mistas/metabolismo , Neoplasias Ovarianas/metabolismoRESUMO
There are several recent reports describing hybrid peripheral nerve sheath tumors showing a biphasic component of neoplastic cells. These combinations include a mixture of neurofibroma and schwannoma, schwannoma and perineurioma, neurofibroma and perineurioma, and perineurioma and granular cell tumor. A case of a triphasic combination of neurofibroma, schwannoma, and perineurioma has also been described. We describe the clinicopathologic and immunohistochemical characteristics of 9 cases of a benign cutaneous plexiform nerve sheath tumor located on the lips and exhibiting hybrid features of perineurioma and cellular neurothekeoma. Clinically, lesions were solitary dome-shaped papules located on the lips. Histopathologically, the neoplasms consisted of well-circumscribed but uncapsulated dermal nodules with a plexiform pattern. They were composed of nests or rounded aggregations of neoplastic cells embedded in a slightly myxoid stroma. Within the aggregates, cells were distributed in a storiform and lamellar pattern. Immunohistochemically, most neoplastic cells expressed strong immunoreactivity for S100A6, MiTF, NKI/C3, PGP9.5, EMA, and NSE, whereas variable, focal, and weaker positivity for CD34, claudin-1, and Glut-1 was seen in some cases. On the basis of these findings, we believe that this neoplasm is a distinctive benign cutaneous plexiform nerve sheath tumor with histopathologic and immunohistochemical hybrid features of perineurioma and cellular neurothekeoma.
Assuntos
Neoplasias Labiais/patologia , Neoplasias Complexas Mistas/patologia , Neoplasias de Bainha Neural/patologia , Neurotecoma/patologia , Adulto , Idoso , Biomarcadores Tumorais/análise , Feminino , Humanos , Imuno-Histoquímica , Neoplasias Labiais/metabolismo , Masculino , Pessoa de Meia-Idade , Neoplasias Complexas Mistas/metabolismo , Neoplasias de Bainha Neural/metabolismo , Neurotecoma/metabolismoAssuntos
Neoplasias Renais/patologia , Neoplasias Complexas Mistas/patologia , Neoplasias Epiteliais e Glandulares/patologia , Actinas/metabolismo , Antígeno Carcinoembrionário/metabolismo , Desmina/metabolismo , Diagnóstico Diferencial , Células Epiteliais/metabolismo , Células Epiteliais/patologia , Seguimentos , Humanos , Neoplasias Renais/metabolismo , Neoplasias Renais/cirurgia , Masculino , Pessoa de Meia-Idade , Neoplasias Complexas Mistas/metabolismo , Neoplasias Complexas Mistas/cirurgia , Neoplasias Epiteliais e Glandulares/metabolismo , Neoplasias Epiteliais e Glandulares/cirurgia , Células Estromais/metabolismo , Células Estromais/patologia , Vimentina/metabolismoRESUMO
Sinonasal intestinal-type adenocarcinomas (ITACs) are rare neoplasms histologically resembling intestinal adenocarcinomas. Although a neuroendocrine differentiation in ITACs has been described, true mixed exocrine-neuroendocrine carcinomas, neoplasms in which each component represents at least 30 % of the lesion, are extremely rare and their molecular alterations are largely unknown. We describe herein the clinico-pathologic features, the methylation profile, chromosomal gains and losses, and mutation analysis of KRAS, BRAF and p53 in a nasal mixed exocrine-neuroendocrine carcinoma resected in a 79-year-old man. The tumor was composed of an ITAC and a poorly differentiated neuroendocrine carcinoma. Both exocrine and neuroendocrine components were CK8, CK20, CDX2 and p53 positive, and CK7 and TTF1 negative. The neuroendocrine component also showed immunoreactivity for chromogranin A, synaptophysin, serotonin and glicentin. Gains and losses were found at following chromosome regions: 17p13 (TP53), 14q24 (MLH3), 19q13 (KLK3), 5q21 (APC), 7q21 (CDK6), 9q34 (DAPK1), 12p13 (TNFRSF 1A, CDKN1B), 13q12 (BRCA2), 17p13.3 (HIC1), 18q21 (BCL2), and 22q12 (TIMP3). Aberrant methylation was detected only in the neuroendocrine component and involved APC and DAPK1 genes. No mutation of KRAS (exons 2-4), BRAF (exon 15), and p53 (exons 4-10) was found in both components. The results suggest a monoclonal origin of the tumor from a pluripotent cell undergoing a biphenotypic differentiation and that the neuroendocrine differentiation may be from an exocrine to an endocrine pathway. We have also reviewed the literature on sinonasal mixed exocrine-neuroendocrine carcinomas to give to the reader a comprehensive overview of these very rare tumor types.
Assuntos
Cavidade Nasal/patologia , Neoplasias Complexas Mistas/patologia , Neoplasias Nasais/patologia , Adenocarcinoma/genética , Adenocarcinoma/metabolismo , Adenocarcinoma/patologia , Idoso , Biomarcadores Tumorais/análise , Carcinoma Neuroendócrino/genética , Carcinoma Neuroendócrino/metabolismo , Carcinoma Neuroendócrino/patologia , Análise Mutacional de DNA , Humanos , Imuno-Histoquímica , Masculino , Neoplasias Complexas Mistas/genética , Neoplasias Complexas Mistas/metabolismo , Neoplasias Nasais/genética , Neoplasias Nasais/metabolismoRESUMO
Three cases of composite uterine neoplasms comprised of primitive neuroectodermal tumor (PNET) and rhabdomyosarcoma (RMS) have previously been described, including only one wherein the rhabdomyosarcomatous component was of the embryonal subtype. Whether such composite neoplasms are a variant of RMS, a variant of PNET, or a unique entity is unknown. We report the clinicopathologic, immunohistochemical, and molecular cytogenetic findings in a case of uterine embryonal RMS with coexisting PNET that was diagnosed in a 25-year-old female. The tumor broadly involved the cervix and corpus uteri and resulted in uterine inversion. The 2 distinct components each showed classic morphologic features, including cartilage in the RMS component. The unique combination of histologic, immunohistochemical and molecular findings in composite neoplasms of this type raises a question of whether they should be classified and treated as RMS, PNET, or a unique high-grade sarcoma. A variety of clinicopathologic arguments are presented that support the notion that the current neoplasm is an embryonal rhabdomyosarcoma with divergent neuroectodermal and cartilaginous differentiation.
Assuntos
Neoplasias Complexas Mistas/patologia , Tumores Neuroectodérmicos Primitivos/patologia , Rabdomiossarcoma Embrionário/patologia , Neoplasias Uterinas/patologia , Adulto , Aneuploidia , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Transformação Celular Neoplásica , Terapia Combinada , DNA de Neoplasias/análise , Intervalo Livre de Doença , Feminino , Humanos , Histerectomia , Hibridização in Situ Fluorescente , Neoplasias Complexas Mistas/genética , Neoplasias Complexas Mistas/metabolismo , Tumores Neuroectodérmicos Primitivos/genética , Tumores Neuroectodérmicos Primitivos/metabolismo , Rabdomiossarcoma Embrionário/genética , Rabdomiossarcoma Embrionário/metabolismo , Recusa do Paciente ao Tratamento , Neoplasias Uterinas/genética , Neoplasias Uterinas/metabolismoRESUMO
We describe the clinicopathological, immunohistochemical, and molecular features of 3 primary juxtacortical myoepithelioma/mixed tumor of bone. The patients were 2 males (13 and 23 years of age) and a 15-year-old female. The juxtacortical lesions were all located in the femur, and were surgically removed, 2 with wide margins and one with marginal margins. This latter tumor recurred locally 18 months later. The 3 patients were free of disease at 6 to 17 months follow-up. Histologically, all lesions showed a prominent multinodular architecture, and were formed by epithelioid and stellate elements, organized in solid sheets, or embedded in myxoid or chondroid matrix. Areas of osteoid formation were also observed. One tumor had the appearance of classical mixed tumor, showing aspects of duct formation and focal squamous differentiation. Immunohistochemically, all cases were positive for cytokeratins, epithelial membrane antigen, and S100 protein. The expression of other myoepithelial markers, including p63, glial fibrillary acid protein and calponin was more limited. No rearrangement of Ewing sarcoma region 1 (EWSR1) and fused in sarcoma (FUS) genes was observed by fluorescent in situ hybridization. To our knowledge, this is the first report of primary myoepitheliomas of bone arising at juxtacortical sites. These lesions must be distinguished from other benign and malignant bone and cartilage-forming surface tumors, including periosteal chondroma and chondrosarcoma, juxtacortical chondromyxoid fibroma, and periosteal and paraosteal osteosarcoma. The clinicoradiologic presentation and their histological and immunohistochemical features are distinctive enough to allow the separation from these entities.
Assuntos
Neoplasias Ósseas/patologia , Mioepitelioma/patologia , Neoplasias Complexas Mistas/patologia , Adolescente , Biomarcadores Tumorais/metabolismo , Neoplasias Ósseas/genética , Neoplasias Ósseas/metabolismo , DNA de Neoplasias/análise , Intervalo Livre de Doença , Feminino , Fêmur/diagnóstico por imagem , Fêmur/patologia , Fêmur/cirurgia , Fêmur/ultraestrutura , Humanos , Hibridização in Situ Fluorescente , Queratinas/metabolismo , Masculino , Mucina-1/metabolismo , Mioepitelioma/genética , Mioepitelioma/metabolismo , Neoplasias Complexas Mistas/genética , Neoplasias Complexas Mistas/metabolismo , Radiografia , Recuperação de Função Fisiológica , Estudos Retrospectivos , Proteínas S100/metabolismo , Resultado do Tratamento , Adulto JovemRESUMO
PURPOSE: Solid-pseudopapillary neoplasms (SPNs) are rare pancreatic tumors, with a low potential for malignancy. The clinical and pathological features of 33 SPNs were reviewed. METHODS: This study conducted a retrospective analysis of 33 patients who underwent surgery for a pathologically confirmed SPN from 2000 to 2011. RESULTS: Thirty of the 33 patients (91 %) were female, and the median age at diagnosis was 29.2 years (range 12-59). The most common symptom was abdominal discomfort with dull pain (58 %). Others included asymptomatic lesions that were only detected incidentally during imaging (21 %), a palpable abdominal mass (15 %) and indigestion (6 %). All 33 patients underwent surgery with a curative intent and 3 (9 %) underwent laparoscopic surgery. The mean diameter of the tumors was 4.9 cm (range 2-15 cm), and they occurred in the head (9, 27 %), neck (5, 15 %), body or tail (19, 58 %) of the pancreas. One patient had lymph node metastases, one patient had portal venous invasion and 8 patients had perineural invasion. The patient follow-up ranged from 4 to 118 months, and 32 patients were alive and well without recurrence. One patient relapsed 10 months after distal pancreatectomy with splenectomy and underwent a second surgery via laparotomy. Unfortunately, the patient died of multiple organ failure 12 days after the second surgery. CONCLUSION: SPNs are rare neoplasms with malignant potential but excellent prognosis. Adequate surgical resection, including laparoscopic surgery, may therefore be performed safely and is associated with a long-term survival, even in invasive cases.
Assuntos
Neoplasias Complexas Mistas/diagnóstico , Pancreatectomia , Neoplasias Pancreáticas/diagnóstico , Pancreaticoduodenectomia , Adolescente , Adulto , Biomarcadores Tumorais/metabolismo , Criança , Feminino , Seguimentos , Humanos , Laparoscopia , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/epidemiologia , Neoplasias Complexas Mistas/metabolismo , Neoplasias Complexas Mistas/mortalidade , Neoplasias Complexas Mistas/cirurgia , Pancreatectomia/métodos , Neoplasias Pancreáticas/metabolismo , Neoplasias Pancreáticas/mortalidade , Neoplasias Pancreáticas/cirurgia , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemAssuntos
Neoplasias das Glândulas Suprarrenais/metabolismo , Carcinoma de Células Renais/patologia , Dopamina/metabolismo , Neoplasias Renais/patologia , Neoplasias Complexas Mistas/metabolismo , Neoplasias Primárias Múltiplas/patologia , Córtex Suprarrenal/patologia , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/cirurgia , Medula Suprarrenal/patologia , Adrenalectomia , Carcinoma de Células Renais/cirurgia , Humanos , Neoplasias Renais/cirurgia , Masculino , Pessoa de Meia-Idade , Neoplasias Complexas Mistas/patologia , Neoplasias Complexas Mistas/cirurgia , Neoplasias Primárias Múltiplas/cirurgia , NefrectomiaRESUMO
We present 2 rare cases of mixed schwannoma with meningioma. The first case was sporadic, in a 38-year-old female in cervical spine (C2). The second case was a 24-year-old female, associated with NF-2, involving bilateral cerebellopontine angle with extension into the left cavernous sinus, sellar region with erosion of the petrous ridge and multiple intradural extramedullary lesions in the spinal cord suggestive of neurofibromas. To date only 12 cases of such tumors are documented in the literature. To the best of our knowledge this is the first case of sporadic mixed schwannoma with meningioma in cervical spine (C2).