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Veronica Jorge Ayres,1 Luciana Costa Ramalho,1 Sheila Cristina Lordelo Wludarski,2 Eduardo de Faria Castro Fleury1 1Department of Radiology of Instituto Brasileiro do Controle do Câncer, São Paulo, SP, 03102-002, Brazil; 2Department of Pathology of Instituto Hermes Pardini SA, Belo Horizonte, MG, BrazilCorrespondence: Veronica Jorge AyresInstituto Brasileiro do Controle do Câncer, Av Alcântara Machado, 2576, São Paulo, 03102-002, SP, BrazilTel + 55 11 3474-4222Email ayresve@gmail.comAbstract: A solitary dilated duct visualized by mammography is a rare event. According to the latest edition of BI-RADS® it is classified as category 4. This series of cases shows complementary ultrasound of a solitary dilated duct can reduce false-positive results on mammography.Keywords: breast, duct, mammography, ultrasound

Currently, attention has been given to complications related to breast implants, especially due to the presence of anaplastic large cell lymphoma (ALCL) related to silicone implants. Many manuscripts attempt to associate silicone presence with clinical complaints reported by patients, while others try to demonstrate the mechanisms of silicone bleeding by permeability loss of breast implant surfaces. There also are reports of foreign body type reactions from implant fibrous capsule to silicone corpuscles. However, there seems to be no study that correlates the clinical, radiological, and histological correlations of these lesions. The objective of this review is to correlate radiological findings of silicone-induced granuloma of breast implant capsule (SIGBIC) from breast MRI (BMRI) scans and complementary findings of ultrasound (US) and positron emission tomography (PET) scan, and its histology originated from surgical breast implant capsulectomy. To make this correlation possible, we divided SIGBIC into three radiological findings: (1) intracapsular SIGBIC, (2) SIGBIC with extracapsular extension, and (3) mixed SIGBIC associated with seroma. Our experience demonstrates histological-radiological correlation in SIGBIC diagnosis. Knowledge of these findings may demonstrate its real importance in terms of public health and patient management. We believe that SIGBIC is currently underdiagnosed by lack of training, guidance, and management in our clinical practice.

Follicular lymphoma is clinically heterogenous, and therefore necessitates the identification of prognostic markers to stratify risk groups and optimize clinical management. It is relatively rare in patients younger than 40 years, and the clinicopathologic characteristics and biological behavior in this age group are poorly understood. In the current study, samples from a cohort of 200 patients between 19 and 40 years were evaluated retrospectively with respect to clinical, histologic, and genetic features. These were then correlated with clinical outcome. The median age at presentation was 35 years with a slight female prepoderance (56%). Most of the cases are presented with nodal disease (90%). Concomitant follicular lymphoma and diffuse large B-cell lymphoma were observed in 7 (4%) patients. Immunohistologic studies showed the expression of CD10 (91%), BCL6 (97%), BCL2 (95%), MUM1/IRF4 (12%), MDM2 (17%), and CD23 (25%). BCL2 rearrangement was present in 74%, and BCL6 in 20%. The estimated overall survival of patients was 13 years (mean). The presence of anemia, elevated lactose dehydrogenase, bone marrow involvement, and high-risk follicular lymphoma international prognostic index correlated with adverse overall survival. Our findings revealed that follicular lymphoma in young adults demonstrate similarities with that of older adults, including the frequency of presentation at various anatomic sites, grade, and adverse prognostic factors.

The distinction between classic lobular and ductal carcinoma, both in situ and invasive, has important therapeutic and management implications. Most ductal and lobular carcinomas are distinguished readily on hematoxylin-eosin-stained sections because of distinct histomorphologic features. In cases with ambiguous morphologic features, however, categorization in one or another type can be a challenge. Several immunohistochemical markers, including epithelial cadherin, p120, β-catenin, and low-molecular-weight and high-molecular-weight cytokeratins among others, have been introduced to help better discriminate between lobular neoplasia and ductal carcinoma. In this critical review of the literature, we comment about the usefulness and the limitations of these markers to improve the accuracy in the differential diagnosis of breast pathology.

Context.—The mammary gland can be a site of metastasis in patients with malignant melanoma, which is easily recognized microscopically if clinical information is available. Nonetheless, metastatic melanoma presenting as an isolated mammary tumor can be more challenging to diagnose because it can simulate a primary breast carcinoma clinically and morphologically.Objective.—To review metastatic melanoma to the breast, presenting as primary breast carcinomas clinically and morphologically.Design.—The authors report 20 cases of metastatic melanoma clinically presenting as breast tumors. Cases with widespread metastatic presentation were excluded.Results.—Epithelioid and spindle cell tumors predominated, suggesting mammary ductal, papillary, or sarcomatoid carcinoma. Most cases (16 of 20) were submitted for consultation or second opinion owing to their unusual presentation in the breast, or to perform predictive/prognostic immunohistochemical assays. Seven cases had a remarkable phenotypic spectrum expanding the differential diagnosis to large cell lymphoma, leiomyosarcoma, medullary carcinoma, malignant schwannoma, and liposarcoma. Tumor cells were negative for cytokeratin stains and positive for S100 protein, HMB-45, and Melan-A. Negative staining was also observed for epithelial membrane antigen, CD45, desmin, estrogen and progesterone receptors, and human epidermal growth factor receptor 2.Conclusions.—Metastatic melanoma may simulate a broad spectrum of primary breast malignancies. Although the application of a simple panel of antibodies assists in rendering the correct interpretation, lesions presenting as isolated breast tumors may introduce a significant diagnostic difficulty, especially when there is inadequate patient history and/or limited biopsy material. Further challenges are introduced by the extraordinary phenotypic plasticity of metastatic melanoma. Awareness of this pattern variance is essential to avoid inappropriate treatment, especially in cases simulating a “triple negative,” poorly differentiated carcinoma of the breast.

We have studied 22 cases of mammary lipophyllodes tumors (LPT), analyzing their clinicopathologic features along with available follow-up. All cases were tested for cytokeratins, S100 protein, and MDM2, and in selected cases for estrogen receptor, smooth muscle actin, bcl2, desmin, and myogenin. Patients were women aged 21 to 69 years (average, 45 years), and LPT size ranged from 1.6 to 30 cm (average, 9.7 cm). Microscopically, LPT segregated as follows: atypical lipoma-like tumor/well-differentiated liposarcoma (ALT/WDL), 8 cases; myxoid, 6; and pleomorphic/poorly differentiated/round cell, 8, including a case of dedifferentiated liposarcoma. Immunohistochemistry studies showed focal positive staining for S100 and CD34 in most ALT/WDL, and desmin and myogenin in 2 cases with evidence of rhabdomyoblastic differentiation. MDM2 positivity was focally seen in 1 case. Follow-up was available in 8 cases. Multiple recurrent tumors were seen in 2 patients, and metastatic disease to the lung was seen in 2 patients. In 4 patients with a follow-up between 2 and 15 years there was no evidence of recurrent or metastatic disease. Patients with ALT/WDL (2/2) were alive with no evidence of disease; 2 of 4 patients with myxoid liposarcoma component experienced tumor recurrence, whereas pleomorphic liposarcoma LPT pursued a less favorable course although only 1 patient died of the condition. Absence of MDM2 reactivity in most cases seems not as meaningful as in fatty tumors of somatic soft parts.

Breast cancer accounts for approximately one quarter of all cancers in females. HER2 gene amplification or HER2 protein overexpression, detected in about 20% of breast carcinomas, predicts a more aggressive clinical course and determines eligibility for targeted therapy with trastuzumab. HER2 testing has become an essential part of the clinical evaluation of all breast carcinoma patients, and accurate HER2 results are critical in identifying patients who may be benefited from targeted therapy. This study investigated the concordance in the results of HER2 immunohistochemistry assays performed in 500 invasive breast carcinomas between a reference laboratory and 149 local laboratories from all geographic regions of Brazil. Our results showed an overall poor concordance (171 of 500 cases, 34.2%) regarding HER2 results between local and reference laboratories, which may be related to the low-volume load of HER2 assays, inexperience with HER2 scoring system, and/or technical issues related to immunohistochemistry in local laboratories. Standardization of HER2 testing with rigorous quality control measures by local laboratories is highly recommended to avoid erroneous treatment of breast cancer patients.

The article reports the clinical, histopathological, and immunohistochemical findings of a 1-year-old boy presenting with isosexual pseudoprecocity attributable to a functioning Leydig cell tumor of the testis. The case appears to represent the youngest patient ever recognized with this well-known syndrome. Malignancy features were also for the first time initially assessed using criteria, retrospectively developed from the literature, for metastasizing Leydig cell tumor. All the following were found: infiltrative borders, cellular pleomorphism, high mitotic index (12-14/high-power field), high MIB-1 index (40%), P53 positivity in 50% of the cells, and bcl-2 positivity in 15% of the cells. Immunohistochemistry proved the cells of the tumor to be positive for inhibin, Melan-A, synaptophysin, cytokeratin, and calretinin and negative for S-100 and chromogranin A. Notably, lipochrome and crystals of Reinke were not found in the tumor cells. Although the neoplasm fulfilled the criteria for a potentially metastasizing Leydig cell tumor, there was no evidence of that event having occurred, perhaps as a result of early treatment or as indication that criteria developed for Leydig cell tumor of adults may not apply to children.

Objetivo: Relatar 20 pacientes portadores de dermolipoma e 10 pacientes com prolapso de gordura orbitária, ressaltando aspectos que podem auxiliar para o diferencial clínico destas duas entidades. Métodos: Foi realizado estudo retrospectivo de 12 anos, avaliando-se portadores de dermolipoma e de prolapso de gordura orbitária, atendidos na Faculdade de Medicina de Botucatu-SP. Resultados: No período foram detectados 20 (1,6 pacientes/ano) portadores de dermolipoma e 10 (0,8 pacientes/ano), de prolapso de gordura orbitária. Quanto ao sexo, o dermolipoma acometeu mais mulheres e o prolapso de gordura orbital ocorreu mais em homens. Nos portadores de dermolipoma, a lesão foi encontrada no canto externo em todos os pacientes, sendo bilateral em apenas um caso; nos com prolapso de gordura orbital, a lesão localizava-se no canto externo em 9 dos 10 portadores. Sete pacientes com dermolipoma possuíam associação com outras doenças oculares e em dez pacientes a lesão estava presente desde o nascimento. Conclusão: O dermolipoma é semelhante ao prolapso de gordura orbitária quanto à localização e aparência clínica. Porém, o dermolipoma está presente desde o nascimento, ocorre mais no sexo feminino, podendo estar associado a outras doenças oculares. O prolapso de gordura orbitária é alteração que ocorre em indivíduos idosos, geralmente do sexo masculino.Purpose: To describe the clinical features of patients with dermolipoma and orbital fat prolapse. Methods: A retrospective 12-years survey was done concerning patients with dermolipoma and orbital fat prolapse, at the Faculdade de Medicina de Botucatu - UNESP. Results: During that time we found 20 patients with dermolipoma and 10 with orbital fat prolapse. Dermolipoma occurred mainly in children, more in female, and was frequently located at the external canthus, 7 patients had other ocular associated diseases. The orbital fat prolapse occurred also in Caucasians, more in males, the elderly, and in all but one occurred temporally. Conclusion: Dermolipoma and orbital fat prolapse have similar clinical appearances, but they are clearly distinct. Dermolipoma affects children, female, and orbital fat prolapse, elderly and males.

CONTEXT: Perineuriomas are rare tumors composed of cells resembling those of the normal perineurium. It usually occurs in subcutaneous, soft-tissue or intraneural locations. Very few reports in the literature have described perineuriomas in the gastrointestinal tract, including the stomach, colon and jejunum. CASE REPORT: We report the clinicopathological and immunohistochemical features of a case of ileal perineurioma that was manifested clinically as intestinal obstruction due to intussusception. Ileal perineurioma has not previously been reported at this anatomical location

O câncer de mama corresponde a aproximadamente um quarto das neoplasias malignas em mulheres. A incidência do câncer de mama no Brasil é de cerca de 50.000 novos casos por ano, sendo considerado importante problema de saúde pública. HER2 e receptores hormonais (receptores de estrógeno e progesterona) são considerados os mais importantes marcadores prognósticos e preditivos em carcinoma de mama. A amplificação do gene HER2 ou a superexpressão da proteína HER2, que ocorre em cerca de 20 porcento dos carcinomas de mama, está associada a curso clínico mais agressivo e determina elegibilidade para terapia específica anti-HER2 com trastuzumabe. A terapia hormonal reduz em mais de 50 porcento o risco relativo de recorrência da doença em pacientes com tumores sensíveis a esse tratamento. Os testes de HER2 e receptores hormonais são partes essenciais da avaliação clínica das pacientes com carcinoma de mama; resultados precisos são fundamentais na identificação de pacientes que podem ser beneficiadas por terapias específicas. O presente estudo investigou a concordância nos resultados dos testes de HER2 e receptores hormonais determinados por imuno-histoquímica em 500 carcinomas invasivos de mama entre um laboratório referência e laboratórios locais de todas as regiões geográficas do Brasil. Os resultados demonstram baixa concordância geral (171/500 casos, 34,2 porcento) em relação aos resultados do teste de HER2 entre laboratórios locais e referência, o que pode estar relacionado ao baixo volume de testes de HER2 realizados, inexperiência com o sistema de escores de HER2 e/ou questões técnicas relacionadas à imuno-histoquímica nos laboratórios locais. A concordância nos resultados do teste de receptores de estrógeno e progesterona foi de 89,4 porcento (447/500 casos) e de 85,0 porcento (425/500 casos), respectivamente, entre laboratórios locais e referência. Padronização dos testes de HER2 e receptores hormonais com medidas de controle de qualidade rigorosas por laboratórios locais é fortemente recomendada para se evitar o tratamento inadequado de pacientes com câncer de mama Breast cancer accounts for approximately one quarter of all cancers in females. The incidence of breast cancer in Brazil is about 50,000 new cases per year, and it is considered an important public health problem. HER2 and hormone receptors (estrogen and progesterone receptors) are considered the main prognostic and predictive markers for breast carcinoma. HER2 gene amplification or HER2 protein overexpression, detected in about 20 percent of breast carcinomas, predicts a more aggressive clinical course and determines eligibility for targeted therapy with trastuzumab. Hormonal therapy reduces the relative risk of recurrence by more than 50% in breast cancer patients with hormone-sensitive tumors. HER2 and hormone receptors testing has become an essential part of the clinical evaluation of all breast carcinoma patients, and accurate results are critical in identifying patients who may benefit from targeted therapy. The present study investigated the concordance in the results of HER2 and hormone receptors immunohistochemistry assays performed in 500 invasive breast carcinomas between a reference laboratory and local laboratories from all geographic regions of Brazil. Our results showed an overall poor concordance (171/500 cases, 34.2 percent) regarding HER2 results between local and reference laboratories, which may be related to the low-volume load of HER2 assays, inexperience with HER2 scoring system, and/or technical issues related to immunohistochemistry in local laboratories. The concordance of estrogen and progesterone receptors results was 89.4 percent (447/500 cases) and 85.0 percent (425/500 cases), respectively, between local and reference laboratories. Standardization of HER2 and hormone receptors testing with rigorous quality control measures by local laboratories is highly recommended in order to avoid erroneous treatment of breast cancer patients

CONTEXTO E OBJETIVO: O carcinoma de mama e responsavel por cerca de um quarto de todos os cânceres em mulheres. O teste de receptores de estrogeno e progesterona se tornou parte essencial da avaliacao clinica de pacientes com carcinoma de mama; assim, resultados precisos sao fundamentais para identificacao de pacientes que podem se beneficiar da terapia hormonal. O presente estudo tem por objetivo investigar a concordância nos resultados do teste de receptores hormonais entre um laboratorio referencia e laboratorios locais (ou comunitarios) do Brasil. TIPO DE ESTUDO E LOCAL: Estudo retrospectivo em laboratorio referencia em patologia no Brasil. METODOS: A concordância nos resultados dos testes de receptores hormonais entre um laboratorio referencia e 146 diferentes laboratorios locais brasileiros foi comparada em 500 casos de carcinoma invasivo de mama atraves da imunoistoquimica. RESULTADOS: Houve concordância de 89,4% (447/500 casos) e 85,0% (425/500 casos) nos resultados dos testes de receptores de estrogeno (κ = 0,744, P < 0,001) e progesterona (κ = 0,688, P < 0,001), respectivamente, entre laboratorios locais e referencia, similar a descrita em outros paises. A taxa de resultados falso-negativos nos testes de receptores de estrogeno e progesterona em laboratorios locais foi de 8,7% e 14,4%, respectivamente. A taxa de resultados falso-positivos nos testes de receptores de estrogeno e progesterona em laboratorios locais foi de 15,5% e 16,0%, respectivamente. CONCLUSAO: Questoes tecnicas e de interpretacao dos resultados podem explicar a maior parte das discordâncias nos testes de receptores hormonais em laboratorios locais. A validacao dos testes de receptores de estrogeno e progesterona pelos laboratorios locais com medidas de controle de qualidade rigorosas e fortemente recomendada de modo a evitar o tratamento erroneo de pacientes com carcinoma de mama.

A 10-year-old Caucasian boy was admitted to the hospital with a 3-month history of headache, vomiting, ataxia, and right amaurosis. A magnetic resonance imaging (MRI) showed a solid, expansive, parasagittal mass in the right parietal hemisphere that extended sagitally to include the optical chiasm. The lesion was considered unresectable. Histology and immunophenotyping of biopsy tissue revealed characteristics of peripheral T-cell lymphoma. No other anatomical region, including bone marrow, was compromised. Primary T-cell lymphomas of the central nervous system are rare, especially in childhood. Here, we describe the rapidly deteriorating and fatal clinical course of a boy with a primary T-cell lymphoma in the central nervous system.

HER2 gene amplification or HER2 protein overexpression predicts a more aggressive clinical course in breast cancer, with a worse response to hormonal therapy, and determines eligibility for the use of the anti-HER2 antibody trastuzumab. For these reasons, the diagnostic assays that determine HER2 status in breast carcinoma have become increasingly important. Our goal was to evaluate the concordance, sensitivity, and specificity of a rabbit monoclonal antibody directed to the extracellular domain of the HER2 receptor (SP3) and compare it with fluorescence in situ hybridization and HercepTest in 179 invasive breast carcinomas. We found that SP3 was in agreement with fluorescence in situ hybridization results in 94.6% of cases. HercepTest and fluorescence in situ hybridization results were in agreement in 95.1% of the cases. Only 4.3% (4/93) of the cases that scored 0/1+ by SP3 were amplified by fluorescence in situ hybridization, and 8.3% (3/36) of cases that scored 3+ were not amplified by fluorescence in situ hybridization. Comparing SP3 with HercepTest, we observed that HercepTest demonstrated higher sensitivity (100.0% vs. 89.0%) but SP3 demonstrated higher specificity (97.0% vs. 89.0%). An important advantage of SP3 (in comparison with HercepTest) is its higher discrimination power (72.1% vs. 34.1%). For these reasons, this antibody could be helpful in the determination of HER2 status in a routine basis.