RESUMO
Tumors of the perivascular epithelioid cells (PEComa) of the uterus are rare mesenchymal tumors that are characterized by the expression of both melanocyte and smooth muscle markers. It is often difficult to distinguish PEComas from other uterine tumors: endometrial stromal sarcoma, smooth muscle tumors including epithelioid tumors, melanoma and clear cell sarcoma. We report two cases of malignant PEComas of the uterus, treated in two different hospitals, found in women over 60, presenting a clinical picture of metrorrhagia in a context of myomatous uterus. In the first case, the histological examination of the hysterectomy specimen found a diffuse proliferation of epithelioid cells expressing HMB45. In the second case, the question of the differential diagnosis of the PEComa with a uterine epithelioid leiomyosarcoma arose, in front of the weak or even absent expression of the melanocytic immunohistochemical markers (melanA negative and focal HMB 45). The opinion requested from a network of experts (RRePS) had made it possible to validate the diagnosis of PEComa, notably by carrying out a complement of immunohistochemistry (expression of cathepsin K) by the tumor cells. In spite of its rarity, the diagnosis of PEComa should be considered before this type of epithelioid or clear cell uterine tumor because of the possibility of treatment by targeted therapies such as the mTOR (mammalian target of rapamycin) inhibitors.
Assuntos
Neoplasias de Células Epitelioides Perivasculares , Tumor de Músculo Liso , Biomarcadores Tumorais , Células Epitelioides , Feminino , Humanos , Imuno-Histoquímica , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Tumor de Músculo Liso/diagnóstico , ÚteroRESUMO
The last international guidelines on HER2 determination in breast cancer have been updated in 2018 by the American Society of Clinical Oncology and College of American Pathologists, on the basis of a twenty-year practice and results of numerous clinical trials. Moreover, the emerging HER2-low concept for 1+ and 2+ non amplified breast cancers lead to refine French practices for HER2 status assessment. The GEFPICS group, composed of expert pathologists, herein presents the latest French recommendations for HER2 status evaluation in breast cancer, taking into account the ASCO/CAP guidelines and introducing the HER2-low concept. In the era of personalized medicine, HER2 status assessment remains one of the most important biomarkers in breast cancer and its quality guaranties the optimal patients' care. French pathologists' commitment in theranostic biomarker quality is more than ever required to provide the most efficient cares in oncology.
Assuntos
Neoplasias da Mama , Biomarcadores Tumorais , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Feminino , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Receptor ErbB-2/genéticaRESUMO
We report the case of a 13-year-old young lady with a one year reccuring bullous dermatitis history for which the diagnostic hypothesis of dermatitis arterfacta was made. This hypothesis was made by the pathologist, without it being suggested by the dermatologist, after observing singular histological lesions coresponding to a cutaneous blister associated with epidermic necrosis with multinucleated keratinocytes. When dermatitis artefacta is suspected, a biopsy is usually conducted to rule out differential diagnosis such as auto-immmune dermatitis when there is a blister. Confession from patients is rarely obtained. Therefore, having positive histogical clues for dermatitis artefacta would be of a great use to help making the diagnosis in difficult cases.
Assuntos
Dermatopatias Vesiculobolhosas/diagnóstico , Adolescente , Biópsia , Dermatite/diagnóstico , Dermatite/patologia , Diagnóstico Diferencial , Feminino , Humanos , Queratinócitos/patologia , Dermatopatias Vesiculobolhosas/patologiaRESUMO
Microcystic variant of serous cystadenoma of the pancreas is a rare neoplasm; essentially located in the body or tail of the pancreas and associated with the von Hippel-Lindau. Often, patients are asymptomatic and the neoplasm is incidentally discovered. Usually radiographic manifestations are characteristic. Histopathological examination revealed uniform clear cuboidal cells; they can be confused with other clear cell neoplasms like renal cell carcinomas, well-differentiated neuroendocrine tumors and solid pseudopapillary tumors of the pancreas. Immunohistochemistry can be help to establish the diagnosis and to remove differential diagnosis. Serous cystadenoma is a benign neoplasm whose prognosis is excellent. We herein report two cases of microcystic serous cystadenomas of the pancreas diagnosed in two asymptomatic women and review analysis in the literature to remind the main features of this lesion and the main differential diagnosis.
Assuntos
Cistadenoma Seroso/patologia , Neoplasias Pancreáticas/patologia , Idoso , Idoso de 80 Anos ou mais , Feminino , HumanosRESUMO
Neoadjuvant therapy is an increasing treatment option in the management of breast cancer. The tumor response to neoadjuvant therapy, especially the pathological complete response, is a validated endpoint frequently used in clinical trials. However, there is still a lack of standardization for the surgical specimen management in the neoadjuvant setting. This leads to heterogeneity in the specimen handling and might lead to significant bias for the prognostic assessment of patients or in clinical trials. The GEFPICS group, composed of expert breast cancer pathologists, herein presents guidelines for the management of breast and axillary specimen before treatment (management of biopsy, items of the pathological report) and after neoadjuvant therapy (specimen handling, histological assessment of response, items of the pathological report and response grading systems).
Assuntos
Neoplasias da Mama/patologia , Mama/patologia , Linfonodos/patologia , Terapia Neoadjuvante , Manejo de Espécimes/normas , Biomarcadores Tumorais , Biópsia/métodos , Biópsia/normas , Neoplasias da Mama/química , Neoplasias da Mama/mortalidade , Neoplasias da Mama/terapia , Quimioterapia Adjuvante/normas , Ensaios de Seleção de Medicamentos Antitumorais , Feminino , França , Humanos , Linfonodos/efeitos dos fármacos , Linfonodos/cirurgia , Prontuários Médicos/normas , Microscopia , Neoplasia Residual/patologia , Prognóstico , Biópsia de Linfonodo Sentinela/métodos , Manejo de Espécimes/métodos , Resultado do Tratamento , Carga Tumoral/efeitos dos fármacosRESUMO
No gold standard exists for histopathological diagnosis of a prosthetic joint infection (PJI). The historical criterion considers the presence of neutrophil infiltration upon examination of periprosthetic tissue. Morawietz et al. proposed a classification of periprosthetic membranes (Morawietz et al., Clin Pathol 59:591-597, 2006, https://doi.org/10.1136/jcp.2005.027458) and a more recently described classification with a new cutoff value of 23 neutrophils in 10 high-power fields (Morawietz et al., Histopathology 54:847-853, 2009. https://doi.org/10.1111/j.1365-2559.2009.03313.x). We performed a multicenter prospective study, which compared both methods for the diagnosis of PJI. All suspicions of PJI (n = 264) between December 2010 and March 2012 in seven centers were prospectively included. Five perioperative specimens were collected per patient for cultures, and one was collected for histology. Diagnosis of PJI was made according to the Infectious Diseases Society of America (IDSA) guidelines. Histopathological analysis classified the patients according to the threshold of 23 neutrophils and according to the classification of Morawietz. Performances of both methods were compared by using clinical and/or bacteriological criteria as the gold standard. Among 264 patients with suspected PJI, a diagnosis of infection was confirmed in 215 and unconfirmed in 49 patients. Histopathological analysis was available for 150 confirmed PJI and 40 unconfirmed PJI cases. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 78.7%, 90.0%, 96.7%, 52.9%, and 81.1%, respectively, for the Morawietz classification, and 82.0%, 90.0%, 96.9%, 57.1%, and 83.7%, respectively, for the 23-neutrophil threshold. The new algorithm using a threshold of 23 neutrophils can be proposed as a new gold standard for the histopathological diagnosis of PJI.
Assuntos
Artrite Infecciosa/diagnóstico , Interface Osso-Implante/patologia , Prótese Articular , Neutrófilos/patologia , Infecções Relacionadas à Prótese/diagnóstico , Idoso , Artrite Infecciosa/patologia , Técnicas Bacteriológicas , Feminino , Humanos , Contagem de Leucócitos , Masculino , Estudos Prospectivos , Infecções Relacionadas à Prótese/patologia , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Merkel cell carcinoma (MCC) can present as a cutaneous tumor or a lymph node metastasis without a primary tumor. MCC presenting without a primary tumor (MCCWOPT) can be misinterpreted on histologic examination as lymph node metastasis (LNM) from another neuroendocrine carcinoma (LNMNEC). However, this distinction is crucial for therapeutic management. OBJECTIVE: To determine the discriminative criteria for the differential diagnosis of MCCWOPT, LNM from cutaneous MCC, and LNMNECs. METHODS: Clinical, morphologic, and immunohistochemical data (expression of cytokeratins AE1, AE3, 7, 19, and 20; chromogranin A, synaptophysin, thyroid transcription factor-1 [TTF-1]), as well as the presence of Merkel cell polyomavirus (by immunohistochemistry and PCR) were compared in patients with MCCWOPT (n = 17), LNM from a cutaneous MCC (n = 11), and LNMNEC (n = 20; 8 lung, 7 thyroid, 3 digestive tract, 2 other). RESULTS: MCC (including MCCWOPT and LNM from a cutaneous MCC) differed from LNMNEC by 7 discriminative criteria: 1) elderly age, 2) location of the tumor, 3) extent of the disease, 4) cytokeratin expression, 5) TTF-1 expression, 6) histologic type, and 7) Merkel cell polyomavirus detection, summarized under the acronym ELECTHIP. All MCC patients had ≥5 of the ELECTHIP criteria, whereas all patients with LNMNEC (except 1) had <3 criteria. LIMITATIONS: The discriminant ability of the ELECTHIP criteria should be validated in a second independent set. CONCLUSION: MCCWOPT can be distinguished from other LNMNEC by the ELECTHIP criteria.
Assuntos
Carcinoma de Célula de Merkel/patologia , Carcinoma Neuroendócrino/patologia , Linfonodos/patologia , Neoplasias Cutâneas/patologia , Infecções Tumorais por Vírus/patologia , Idoso , Biomarcadores Tumorais/análise , Biópsia por Agulha , Carcinoma de Célula de Merkel/diagnóstico , Carcinoma Neuroendócrino/diagnóstico , Estudos de Coortes , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Linfonodos/virologia , Metástase Linfática/patologia , Masculino , Poliomavírus das Células de Merkel/isolamento & purificação , Pessoa de Meia-Idade , Prognóstico , Medição de Risco , Neoplasias Cutâneas/diagnóstico , Infecções Tumorais por Vírus/diagnósticoAssuntos
Carcinoma de Célula de Merkel/diagnóstico , Linfonodos/patologia , Metástase Linfática/diagnóstico , Neoplasias Primárias Desconhecidas/diagnóstico , Neoplasias Cutâneas/patologia , Biomarcadores Tumorais/análise , Carcinoma de Célula de Merkel/secundário , Carcinoma de Célula de Merkel/virologia , Humanos , Linfonodos/virologia , Metástase Linfática/patologia , Poliomavírus das Células de Merkel/isolamento & purificação , Neoplasias Primárias Desconhecidas/virologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/virologiaRESUMO
We report two cases of patients with chronic renal failure showing rectal bleeding due to digestive ulcers, associated with Kayexalate(®) alone. Kayexalate(®) crystals correspond to a typical histological picture and it is important to know how to identify them in order to discuss a possible pathogenicity.
Assuntos
Doenças do Colo/induzido quimicamente , Poliestirenos/efeitos adversos , Úlcera/induzido quimicamente , Adulto , Doenças do Colo/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Úlcera/patologiaRESUMO
The gastro-intestinal neuroectodermal tumor (GNET) is a rare sarcoma of the digestive tract, which was recently recognised. The knowledge of the morphological, immunohistochemical and molecular diagnostic criteria is necessary to not mistake it for the metastasis of a melanoma or for another sarcoma of the digestive tract as the gastro-intestinal clear cells sarcoma or the malignant peripheral nervous system tumor (MPNST). We report the case of a 41-year-old patient with a GNET of the small intestine with hepatic metastasis. The histological examination showed a diffuse proliferation of epithelioid cells, which only express PS100. The presence EWSR1-ATF1 gene fusions with any melanocytic differentiation leads to the diagnosis of GNET.
Assuntos
Neoplasias Intestinais/patologia , Neoplasias Hepáticas/secundário , Tumores Neuroectodérmicos/secundário , Adulto , Biomarcadores Tumorais/análise , Diagnóstico Diferencial , Febre/etiologia , Humanos , Neoplasias Intestinais/genética , Neoplasias Hepáticas/diagnóstico , Masculino , Melanoma/diagnóstico , Tumores Neuroectodérmicos/diagnóstico , Tumores Neuroectodérmicos/genética , Proteínas de Fusão Oncogênica/genética , Proteínas S100/análise , Sarcoma de Células Claras/diagnóstico , Redução de PesoRESUMO
Biomarker assessment of breast cancer tumor samples is part of the routine workflow of pathology laboratories. International guidelines have recently been updated, with special regards to the pre-analytical steps that are critical for the quality of immunohistochemical and in situ hybridization procedures, whatever the biomarker analyzed. Fixation and specimen handling protocols must be standardized, validated and carefully tracked. Cooperation and training of the personnel involved in the specimen workflow (e.g. radiologists, surgeons, nurses, technicians and pathologists) are of paramount importance. The GEFPICS' update of the recommendations herein details and comments the different steps of the pre-analytical process. Application of these guidelines and participation to quality insurance programs are mandatory to ensure the correct evaluation of oncotheranostic biomarkers.
Assuntos
Biomarcadores Tumorais/análise , Neoplasias da Mama/química , Imuno-Histoquímica/métodos , Hibridização In Situ/métodos , Receptor ErbB-2/análise , Receptores de Esteroides/análise , Neoplasias da Mama/patologia , Feminino , Fixadores , França , Técnicas Histológicas , Humanos , Prognóstico , Controle de Qualidade , Receptores de Estrogênio/análise , Receptores de Progesterona/análise , Manejo de Espécimes/métodosRESUMO
International guidelines on HER2 determination in breast cancer have just been updated by the American Society of Clinical Oncology (ASCO) and College of American Pathologists (CAP), on the basis of more than ten-year practice, results of clinical trials and concordance studies. The GEFPICS group, composed of expert pathologists in breast cancer, herein presents these recommendations, adapted to the French routine practice. These guidelines highlight the possible diagnosis difficulties with regards to HER2 status determination, such as intra-tumor heterogeneity, special histological subtypes and biomarker re-evaluation during metastatic relapse. Pre-analytical issues and updated scoring criteria (especially for equivocal cases) are detailed, in order to decrease the occurrence of false negative cases. In the era of personalized medicine, pathologists are more than ever involved in the quality of oncotheranostic biomarker evaluation.
Assuntos
Biomarcadores Tumorais/análise , Neoplasias da Mama/química , Neoplasias da Mama/patologia , Receptor ErbB-2/análise , Neoplasias da Mama/tratamento farmacológico , Reações Falso-Negativas , Feminino , França , Humanos , Imuno-Histoquímica/métodos , Hibridização In Situ , Hibridização in Situ Fluorescente , Metástase Neoplásica/patologia , Recidiva Local de Neoplasia , PrognósticoRESUMO
Papillary carcinomas are a special histological type of breast cancer and have a relatively good outcome. We characterized the genomic and phenotypic characteristics of papillary carcinomas to determine whether they would constitute an entity distinct from grade- and oestrogen receptor (ER)-matched invasive ductal carcinomas of no special type (IDC-NSTs). The phenotype of 63 papillary carcinomas of the breast and grade- and ER-matched IDC-NSTs was determined by immunohistochemistry. DNA of sufficient quality was extracted from 49 microdissected papillary carcinomas and 49 microdissected grade- and ER-matched IDC-NSTs. These samples were subjected to high-resolution microarray-based comparative genomic hybridization (aCGH) and Sequenom MassARRAY sequencing analysis of 19 known oncogenes. Papillary carcinomas were predominantly of low histological grade, expressed immunohistochemical markers consistent with a luminal phenotype, and a lower rate of lymph node metastasis and p53 expression than grade- and ER-matched IDC-NSTs. Papillary carcinomas displayed less genomic aberrations than grade- and ER-matched IDC-NSTs; however, the patterns of gene copy number aberrations found in papillary carcinomas were similar to those of ER- and grade-matched IDC-NSTs, including 16q losses. Furthermore, PIK3CA mutations were found in 43% and 29% of papillary carcinomas and grade- and ER-matched IDC-NSTs, respectively. The genomic profiles of encapsulated, solid and invasive papillary carcinomas, the three morphological subtypes, were remarkably similar. Our results demonstrate that papillary carcinomas are a homogeneous special histological type of breast cancer. The similarities in the genomic profiles of papillary carcinomas and grade- and ER-matched IDC-NSTs suggest that papillary carcinomas may be best positioned as part of the spectrum of ER-positive breast cancers, rather than as a distinct entity. Furthermore, the good prognosis of papillary carcinomas may stem from the low rates of lymph node metastasis and p53 expression, low number of gene copy number aberrations and high prevalence of PIK3CA mutations.
Assuntos
Neoplasias da Mama/genética , Carcinoma Ductal de Mama/genética , Carcinoma Papilar/genética , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/patologia , Carcinoma Papilar/patologia , Estudos de Casos e Controles , Classe I de Fosfatidilinositol 3-Quinases , Feminino , Humanos , Imunofenotipagem/métodos , Metástase Linfática , Mutação/genética , Fenótipo , Fosfatidilinositol 3-Quinases/genética , Receptores de Estrogênio/genéticaRESUMO
We report the case of a 16-year-old girl with an anaplastic large cell lymphoma of lymphohistiocytic pattern revealed by a hemophagocytic syndrome. Histologically, the lymphomatous population was concealed by clusters of histiocytes. Immunohistochemical study allowed the diagnosis. The combination of these two entities is rarely described and may be a source of delay in diagnosis of a life-threatening condition.
Assuntos
Linfo-Histiocitose Hemofagocítica/etiologia , Linfoma Anaplásico de Células Grandes/complicações , Ativação de Macrófagos , Adolescente , Quinase do Linfoma Anaplásico , Biópsia , Medula Óssea/patologia , Cromossomos Humanos Par 2/genética , Cromossomos Humanos Par 2/ultraestrutura , Cromossomos Humanos Par 5/genética , Cromossomos Humanos Par 5/ultraestrutura , Feminino , Febre/etiologia , Hepatomegalia/etiologia , Humanos , Linfonodos/patologia , Linfo-Histiocitose Hemofagocítica/patologia , Linfoma Anaplásico de Células Grandes/diagnóstico , Linfoma Anaplásico de Células Grandes/genética , Linfoma Anaplásico de Células Grandes/patologia , Otite Média/etiologia , Pancitopenia/etiologia , Receptores Proteína Tirosina Quinases/análise , Recidiva , Esplenomegalia/etiologia , Translocação GenéticaAssuntos
Biópsia com Agulha de Grande Calibre , Neoplasias da Mama/secundário , Cistadenocarcinoma Seroso/secundário , Neoplasias Ovarianas/patologia , Idoso , Biomarcadores Tumorais/análise , Neoplasias da Mama/química , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Carcinoma de Células Renais/secundário , Terapia Combinada , Cistadenocarcinoma Seroso/química , Cistadenocarcinoma Seroso/diagnóstico , Cistadenocarcinoma Seroso/patologia , Feminino , Humanos , Imunofenotipagem , Metástase Linfática , Melanoma/secundário , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/cirurgia , Neoplasias Peritoneais/etiologia , Tomografia por Emissão de Pósitrons combinada à Tomografia ComputadorizadaRESUMO
A standardized second histological review for lymphomas was established by the French National Cancer Institute in 2010. The objective of our study was to assess the clinical impact of this process between a general hospital (reader 1) and an expert (reader 2). This prospective study was conducted between April 1st 2010 and April 1st 2011. Fifty-four cases of lymphoma were subjected to an expert review following the "LYMPHOPATH" recommendations and diagnoses of readers 1 and 2 were compared according to the WHO 2008 classification of lymphomas. We distinguished serious discrepancies (lymphoma versus other malignancy) from subtyping disagreement with or without impact on therapeutic strategy. We also determined the delays between the initial reception of the sample and reader 1's (period A) and reader 2's (period B) reports, respectively. Any additional analysis performed by second reader was also reported. Our study revealed one case of subtyping discordance (1.85%). The mean delays were 7 days for period A and 20 days for period B, respectively. Additional immunohistochemical techniques were requested by reader 2 in 11 cases (20.4%). These data provide evidence to suggest that in our department, a second review targeted on difficult diagnoses, rare lymphomas or when further analyses are required would be more relevant than a standardized second review.
Assuntos
Erros de Diagnóstico , Hospitais Gerais/estatística & dados numéricos , Linfoma/diagnóstico , Patologia Clínica , Encaminhamento e Consulta/normas , Antígenos CD/análise , Antígenos de Neoplasias/análise , Biomarcadores Tumorais/análise , Biópsia/métodos , Competência Clínica , Diagnóstico Tardio , Gerenciamento Clínico , Hospitais Urbanos/estatística & dados numéricos , Humanos , Linfonodos/patologia , Linfoma/química , Linfoma/classificação , Linfoma/patologia , Linfoma/cirurgia , Variações Dependentes do Observador , Paris , Serviço Hospitalar de Patologia , Estudos Prospectivos , Garantia da Qualidade dos Cuidados de Saúde , Encaminhamento e Consulta/estatística & dados numéricos , Reprodutibilidade dos Testes , Manejo de Espécimes/métodos , Manejo de Espécimes/normasRESUMO
Autologous stem cell transplantation (ASCT) as first-line therapy for follicular lymphoma (FL) remains controversial. The multicenter study randomized 172 patients with untreated FL for either immunochemotherapy or high-dose therapy (HDT) followed by purged ASCT. Conditioning was performed with total body irradiation (TBI) and cyclophosphamide. The 9-year overall survival (OS) was similar in the HDT and conventional chemotherapy groups (76% and 80%, respectively). The 9-year progression-free survival (PFS) was higher in the ASCT than the chemotherapy group (64% vs 39%; P = .004). A PFS plateau was observed in the HDT group after 7 years. On multivariate analysis, OS and PFS were independently affected by the per-formance status score, the number of nodal areas involved, and the treatment group. Secondary malignancies were more frequent in the HDT than in the chemotherapy group (6 secondary myelodysplastic syndrome/acute myeloid leukemia and 6 second solid tumor cancers vs 1 acute myeloid leukemia, P = .01). The occurrence of a PFS plateau suggests that a subgroup of patients might have their FL cured by ASCT. However, the increased rate of secondary malignancies may discourage the use of purged ASCT in combination with TBI as first-line treatment for FL. This trial has been registered with ClinicalTrials.gov under identifier NCT00696735.