Semillas radiactivas y no radiactivas como método de localización quirúrgica de las lesiones mamarias no palpables / Radioactive and non-radioactive seeds as surgical localization method of non-palpable breast lesions

El diagnóstico cada vez más precoz de la enfermedad mamaria y el uso más extendido del tratamiento sistémico primario conlleva en la práctica clínica un creciente número de cirugías de lesiones mamarias no palpables (LMNP).La cirugía conservadora de la mama requiere a menudo la utilización de un procedimiento de localización preoperatorio guiado por imagen, en el cual se coloca un dispositivo en el interior de la lesión a extirpar para guiar al cirujano durante la cirugía. Se trata de pacientes con tumores pequeños, no palpables, detectados en la mamografía de cribado poblacional, casos con significativa reducción de la lesión tras la quimioterapia neoadyuvante e incluso en ocasiones es necesario el marcaje de adenopatías axilares previo al tratamiento sistémico.Durante décadas, la localización con arpón ha sido el estándar para el marcaje preoperatorio en cáncer de mama. Debido al componente externo del arpón, se debe extremar el cuidado de no alterar su posición antes de la cirugía, por lo que se coloca horas antes de la cirugía y conlleva una compleja y limitada flexibilidad de programación quirúrgica.La ecografía intraoperatoria subsana este inconveniente, pero tiene la limitación de que únicamente va a poder realizarse en aquellas LMNP que tienen traducción ecográfica. La técnica Radioguided Ocult Lesión Localization (ROLL), si bien es otra alternativa adoptada por muchas instituciones, no está exenta de complicaciones, entre las que destaca la posibilidad de difusión del radiotrazador hacia el tejido sano.Para solventar estos inconvenientes, más recientemente, se comenzaron a utilizar las semillas radiactivas de 125I. Posteriormente, gracias a los avances tecnológicos, han surgido alternativas de semillas no radiactivas como los reflectores de radar, las semillas magnéticas y los marcadores por radiofrecuencia. Estos dispositivos de localización se pueden colocar días antes de la cirugía

The increasingly early diagnosis of breast disease and the more widespread use of primary systemic therapy leads to an increasing number of surgeries for non-palpable breast lesions (NPL) in clinical practice.Breast-conserving surgery often requires the use of an image-guided preoperative localization procedure, in which a device is placed within the lesion to be removed to guide the surgeon during surgery. These are patients with small, non-palpable tumors detected in the population screening mammogram, cases with significant reduction of the lesion after neoadjuvant chemotherapy and sometimes it is even necessary to mark axillary lymphadenopathies prior to systemic treatment.For decades, wire localization has been the standard for preoperative marking in breast cancer. Due to the external component of this device, extreme care must be taken not to alter its position before surgery, which is why it is placed hours before surgery and entails complex and limited flexibility in surgical programming.Intraoperative ultrasound improves this drawback but has the limitation that it can only be performed in those NPLs that have ultrasound translation. The Radioguided Occult Lesion Localization (ROLL) technique, although it is another alternative adopted by many institutions, is not without complications, among which the possibility of diffusion of the radiotracer into healthy tissue stands out.To overcome these problems, more recently, 125I radioactive seeds began to be used. Subsequently, thanks to technological advances, non-radioactive seed alternatives such as radar reflectors, magnetic seeds and radio frequency markers have emerged. These locating devices can be placed days before surgery, avoiding wire-related problems and complications. They are introduced percutaneously and identified intraoperatively using a detector device.There is no perfect intraoperative localization method for NPL excision, but fortunately, we have multiple techniques

Radioactive and non-radioactive seeds as surgical localization method of non-palpable breast lesions.

The increasingly early diagnosis of breast disease and the more widespread use of primary systemic therapy leads to an increasing number of surgeries for non-palpable breast lesions (NPL) in clinical practice. Breast-conserving surgery often requires the use of an image-guided preoperative localization procedure, in which a device is placed within the lesion to be removed to guide the surgeon during surgery. These are patients with small, non-palpable tumors detected in the population screening mammogram, cases with significant reduction of the lesion after neoadjuvant chemotherapy and sometimes it is even necessary to mark axillary lymphadenopathies prior to systemic treatment. For decades, wire localization has been the standard for preoperative marking in breast cancer. Due to the external component of this device, extreme care must be taken not to alter its position before surgery, which is why it is placed hours before surgery and entails complex and limited flexibility in surgical programming. Intraoperative ultrasound improves this drawback but has the limitation that it can only be performed in those NPLs that have ultrasound translation. The Radioguided Occult Lesion Localization (ROLL) technique, although it is another alternative adopted by many institutions, is not without complications, among which the possibility of diffusion of the radiotracer into healthy tissue stands out. To overcome these problems, more recently, 125I radioactive seeds began to be used. Subsequently, thanks to technological advances, non-radioactive seed alternatives such as radar reflectors, magnetic seeds and radio frequency markers have emerged. These locating devices can be placed days before surgery, avoiding wire-related problems and complications. They are introduced percutaneously and identified intraoperatively using a detector device. There is no perfect intraoperative localization method for NPL excision, but fortunately, we have multiple techniques with different advantages and disadvantages that must be assessed and adapted to the center's own resources, the type of surgery, and always to the benefit of the patient.

Biological and pathological features in pregnancy-associated breast cancer: a matched case-control study.

BACKGROUND: The prognosis for breast cancer has been considered to be worsened by the coexistence of pregnancy. However, to date, significant controversy still exists regarding the pathological tumor features and prognosis of patients diagnosed with pregnancy-associated breast cancer (PABC). The aim of the present study was to analyze the different prognostic factors and outcome in PABC subset versus a non-PABC control group matched for age and year of diagnosis. MATERIALS AND METHODS: A total of 56 PABC cases were diagnosed from 1990 to 2008, for whom 73 non-PABC patients were identified. Pathological characteristics, immunohistochemical fea- tures, and differences in overall and disease-free survival were compared between both groups. RESULTS: Compared to non-PABC controls, PABC patients presented more advanced disease (31% vs 13%, p = 0.024) and greater lymph node involvement (53% vs 34%, p = 0.034). Pathological and tumor features tended to present poorer prognostic factors in the PABC subset. Survival was poorer in the PABC patients (five-year DFS 68% in PABC vs 86% in non-PABC, p = 0.12). However, analysing survival adjusted for stage and age, the authors did not find significant differences between both groups. CONCLUSIONS: PABC patients tended to be diagnosed in advanced breast disease and presented tumors with adverse pathological prognostic factors. While the authors found a poorer outcome in PABC group, no significant differences were observed with stage-matched analysis. The present results may suggest that the poorer prognosis observed within PABC women could not be due to pregnancy itself, but with a delay in diagnosis and tumor subtype pathological features.

Accuracy of three-dimensional ultrasound compared with magnetic resonance imaging in diagnosis of Müllerian duct anomalies using ESHRE-ESGE consensus on the classification of congenital anomalies of the female genital tract.

OBJECTIVE: To establish the accuracy of three-dimensional ultrasound (3D-US), compared with magnetic resonance imaging (MRI), for diagnosing uterine anomalies, using the European Society of Human Reproduction and Embryology-European Society for Gynaecological Endoscopy (ESHRE-ESGE) consensus on the classification of congenital anomalies of the female genital tract. METHODS: Sixty women with uterine anomalies suspected after examination by conventional two-dimensional ultrasound were evaluated with 3D-US and MRI. These data were analyzed retrospectively to confirm the presence and type of uterine malformation in accordance with the ESHRE-ESGE consensus. Sensitivity, specificity and positive (PPV) and negative (NPV) predictive values were calculated, using MRI as the gold standard, and agreement between the two methods was evaluated by kappa index. RESULTS: Compared with MRI, for the diagnosis of normal uteri, 3D-US had a sensitivity of 83.3%, specificity of 100%, PPV of 100%, NPV of 98.2% and kappa index of 0.900. For dysmorphic uteri and for hemi-uteri, the sensitivity, specificity, PPV and NPV were all 100%, and kappa was 1.00. For septate uteri, the sensitivity was 100%, specificity was 88.9%, PPV was 95.5%, NPV was 100% and kappa was 0.918. For bicorporeal uteri, the sensitivity was 83.3%, specificity was 100%, PPV was 100%, NPV was 98.2% and kappa was 0.900. CONCLUSIONS: 3D-US is highly accurate for diagnosing uterine malformations, having a good level of agreement with MRI in the classification of different anomaly types based on the ESHRE-ESGE consensus.

Hormone receptor and HER2 status: The only predictive factors of response to neoadjuvant chemotherapy in breast cancer.

We report our experience in neoadjuvant breast cancer chemotherapy in a single centre between 2000 and 2011. We looked for predictive factors for response to neoadjuvant chemotherapy in the present study. A total of 110 consecutive breast cancer patients were treated with neoadjuvant chemotherapy in our centre. Pathological response was achieved in 24 HR+/HER2- (38.7%), 25 HER2+ (67.6%) and five triple-negative (45.5%) (p = 0.02) patients. No statistically significant differences were found in pathological tumour response according to T stage. The multivariate analysis revealed tumour subtype was the only associated factor for pathological response, with HER2 + tumours the best responders, OR 3.9 (1.5-9.9): 5-year DFS was 40% HER2+/no response; 78% HER2+/response; 65% HR+/HER2-/no response; 82% HR+/HER2-/response; 25% triple-negative/no response and 100% triple-negative/response. HR and HER2 status were the only prognostic factors for pathological response. pCR was correlated with survival in all tumour subtypes.

Atypical ultrasonographic presentation of ovarian vein thrombosis.

Ovarian vein trombosis (OVT) is a pathologic entity classically considered as a postpartum complication and only rarely associated with other diseases. Due to its vague symptoms, it is usually underdiagnosed. However its consequences can be fatal. We report a case of an incidental finding of ovarian thrombosis in an asymptomatic 45-year-old woman who underwent surgery due to the ultrasonographic finding of a para-ovarian cyst.

Utilidad de la elastografía como técnica complementaria de la ecografía convencional en lesiones mamarias BI-RADS 3 / No disponible

Objetivo: Analizar la aportación de la elastografía como técnica complementaria de la ecografía convencional en el manejo de las lesiones mamarias BI-RADS 3 (probablemente benignas). Pacientes y métodos: Se revisaron de forma retrospectiva 45 lesiones mamarias clasificadas como BI-RADS 3 (American College of Radiology, Breast Imaging Reporting and Data System) examinadas con ecografía en modo B y posteriormente con elastografía. El grado de elasticidad de las lesiones se puntuó del 1 al 5 según la escala de Ueno (1-3: benignas; 4-5: malignas). El estándar de referencia fue el diagnóstico citológico en combinación con el seguimiento y/o el resultado histológico de la biopsia con aguja gruesa o biopsia quirúrgica. Resultados: La elastografía presentó una sensibilidad de 50%, especificidad de 90,7%, valor predictivo positivo de 20% y valor predictivo negativo de 97,5%. Cuarenta y tres de las 45 lesiones fueron citológica y/o histológicamente benignas. Treinta y nueve de las 43 lesiones benignas presentaban una puntuación elastográfica benigna (entre 1 y 3) y las 4 restantes tenían puntuación 4 (falsos positivos elastográficos). Todas las lesiones con puntuación elastográfica entre 1 y 3 fueron cito/histológicamente benignas excepto un caso, con diagnóstico histológico de carcinoma ductal infiltrante (falso negativo ecográfico y elastográfico). Conclusión: La elastografía puede ser de utilidad como técnica complementaria de la ecografía convencional en lesiones mamarias BI-RADS 3. La alta concordancia entre elastografía y cito/histología en el diagnóstico de estas lesiones podría disminuir el número de biopsias innecesarias y permitiría orientar a estas pacientes de bajo riesgo hacia un seguimiento(AU)

Objective: To analyze the contribution of elastography as a complementary technique of conventional ultrasound in the management of BI-RADS 3 breast lesions (probably benign). Patients and methods: 45 breast lesions classified as BIRADS 3 (American College of Radiology, Breast Imaging Reporting and Data System) have been retrospectively reviewed, all of them studied with conventional ultrasound and immediately after with real-time elastography. Elastographic images were classified according to Ueno’s five-score system. Scores 1-3 were considered benign and 4-5 malignant. Cytological diagnosis in combination with follow-up and/or histopathological result of a core-needle biopsy or surgical biopsy were used as the reference standard. Results: Elastography had a sensitivity of 50%, specificity of 90.7%, positive predictive value of 20% and negative predictive value of 97.5%. Forty-three of the 45 BI-RADS 3 lesions were cytologically and/or histologically benign. Thirtynine of the 43 benign lesions had a benign elastographic score (between 1 and 3) and the remaining 4 had score 4 (elastographic false positives). All lesions with benign elastographic score were benign except one case with histological diagnosis of infiltrating ductal carcinoma (false negative case). Conclusion: Elastography may be useful as a complementary technique of conventional ultrasound in BI-RADS 3 breast lesions. The high degree of concordance between elastography and cyto/histopathology in the diagnosis of these lesions could reduce the number of unnecessary biopsies and would allow for management of these low risk patients with follow-up(AU)

Biopsia con aguja gruesa de las lesiones mamarias bajo guía ecográfica / No disponible

Objetivo: Valorar la exactitud diagnostica de la biopsia con aguja gruesa bajo guía ecográfica según morfología, tamaño y clasificación BI-RADS de la lesión. Pacientes y métodos: Entre septiembre de 2007 y marzo de 2009 se realizaron 150 biopsias a 142 pacientes consecutivas con aguja gruesa de calibre 14G guiadas por ecografía. Fueron intervenidas 103 pacientes y 29 casos benignos se controlaron en 12-24 meses. 18 casos fueron excluidos por falta de seguimiento o traducción ecográfica. Resultados: Se biopsiaron 114 nódulos (86%) y 18 distorsiones (14%) en 130 pacientes con edad media de 49 años (rango 28-82). La sensibilidad, especificidad, VPP y VPN en nódulos fue: 92, 100; 100 y 86,7% y en distorsiones 92,9, 100, 100 y 80%. El tamaño medio fue de 15,7 mm (rango 3- 42 mm), con sensibilidad, especificidad, VPP y VPN de 84,2, 100, 100 y 81,3% en lesiones menores de 10 mm, 91,1, 100, 100 y 86,7% en lesiones entre 11 y 20 mm, y en lesiones mayores de 20 mm 100, 100, 100 y 100%. La sensibilidad, especificidad, VPP y VPN para BI-RADS 3 (n = 38, 29%) fue 88,9, 100, 100, 96,7; para BI-RADS 4 (n = 60, 45%) 87,2, 100, 100 y 68,4%, y para BI-RADS 5 (n = 34, 26%) 100, 100, 100 y 100%. 82 lesiones fueron malignas, 48 benignas y 2 lesiones de alto riesgo. Hubo 6 falsos negativos y tres infravaloraciones. Conclusión: La biopsia con aguja gruesa bajo guía ecográfica es una técnica fiable para el diagnóstico de lesiones mamarias independientemente de su morfología, variando el resultado según tamaño y categoría BI-RADS(AU)

Purpose: To determine the accuracy of ultrasound-guided breast core-needle biopsy related to lesion morphology, size and BI-RADS classification. Patients and methods: Between September 2007 and March 2009 150 ultrasound-guided 14G core needle biopsies were performed to 142 consecutive patients. 103 patients were surgically treated and 29 benign cases were followed up for 12-24 months. 18 cases were lost to follow-up or lacked sonographic correlation and were thus excluded. Results: 114 nodules (86%) and 18 distortions (14%) were biopsied in 130 patients (ages 28-82 years, mean 49 years). Sensitivity, specificity, PPV and PNV was 92, 100, 100 and 86,7% for nodules and 92.9, 100, 100% and 80% for distortions. Mean size of the lesions was 15.7 mm (range 3-42 mm), with sensitivity, specificity, PPV and PNV 84,2, 100, 100 y 81,3% for lesions less than 10 mm, 91,1, 100, 100 and 86,7% for lesions between 11 and 20 mm, and 100, 100, 100 and 100% for lesions larger than 20 mm. Sensitivity, specificity, PPV and PNV for BI-RADS 3 lesions (n = 38, 29%) was 88.9, 100, 100, 96.7%; for BI-RADS 4 (n = 60, 45%) 87.2, 100, 100 y 68.4%, and for BI-RADS 5 (n = 34, 26%) 100, 100, 100 y 100%. 82 lesions were malignant, 48 benign y 2 high risk lesions. 6 false negatives and three underestimation were found. Conclusion: Core needle biopsy under ultrasound guidance is an effective technique to diagnose breast lesions, independently of its morphology but depending on lesion size and BIRADS category(AU)

Síndrome de Poland. Aspectos ecográficos / No disponible

El síndrome de Poland es una alteración congénita que se caracteriza por la ausencia total o parcial del músculo pectoral mayor y de la glándula mamaria, con un grado variable de anomalías de la mano homolateral y que puede tener asociadas otras malformaciones. Es un síndrome esporádico cuya causa exacta se desconoce, aunque parece corresponder a una alteración vascular embrionaria. Se presenta con mayor frecuencia del lado derecho y en hombres, aunque son pacientes mujeres las que más consultan y por razones estéticas, generalmente después de la adolescencia. El diagnóstico de este síndrome es básicamente clínico, aunque la ecografía puede ayudar a determinar con mayor precisión cuáles son las estructuras afectadas. Se presenta el caso de una paciente que muestra compromiso aislado del músculo pectoral mayor y de la glándula mamaria(AU)

Poland syndrome is a congenital abnormality characterized by aplasia and/or hypoplasia of pectoralis muscle and breast tissue and by thoracic wall defects and ipsilateral upper extremity anomalies in variable degrees. It is a sporadic syndrome of unknown etiology but it seems to be related with a vascular development disorder. This syndrome is more frequent in the right side and in male patients, although female patients usually consult the physician for aesthetic reasons and mainly before the adolescence period. The diagnosis is made on clinical examination. Breast ultrasound is helpful in identifying affected structures properly. We report a case of Poland’s syndrome in a female patient with isolated involvement of pectoralis muscle and breast tissue(AU)

Neurofibroma of the vaginal wall.

BACKGROUND: Von Recklinghausen's disease is characterized by cutaneous manifestations but it is a systemic disease which may affect the genitourinary tract. CASE: A 20-year-old woman with a history of type-1 neurofibromatosis attended our center due to a vaginal nodule. Surgical treatment consisted of an incisional biopsy of the nodule. The anatomopathological diagnosis was plexiform neurofibroma. CONCLUSION: Periodical check-ups are recommended in asymptomatic vaginal neurofibroma whereas its radical excision should be avoided as such surgery is highly aggressive.

[Hysterosalpingography: how, when, what for?]. / Histerosalpingografía: 'cómo, cuándo, para qué?

Histerosalpingography is the most commonly used technique in the evaluation of infertility. It has traditionally been considered the gold standard for assessment of Fallopian tubes giving information about their patency and morphology. It is also recommended for the study of the uterine cavity. With a good knowledge about the anatomy and the variants of the normality, and a good technique, we can do a good differential diagnosis between normality and pathology, which probably it will need more tests.

Carcinoma oculto de la mama metastásico en ganglio intramamario / No disponible

Se presenta un caso de una mujer de 63 años con un nóduloen los cuadrantes externos de la mama derecha con característicasmamográficas y ecográficas de benignidad, en la queel estudio citológico evidencia un carcinoma, el cual histológicamentecorresponde a un ganglio linfático intramamario metastásicocon un primario en la glándula mamaria no detectado

A case of a 63-year old woman with a nodular lesion in theexternal quadrants of the right breast. The lesion was mammographicallyand ultrasonographically benign, but fine needleaspiration showed a carcinoma. Pathologic examinationrevealed a metastatic intramammary lymph node, but the primarycarcinoma in the breast could not be detected

Histerosalpingografía: ¿cómo, cuándo, para qué? / Hysterosalpingography: how, when, what for?

La histerosalpingografía (HSG) es la técnica radiológica de cribaje más utilizada en la actualidad en el estudio de la infertilidad femenina. Durante muchos años ha sido la prueba de elección para el estudio de la morfología y funcionalismo de las trompas de Falopio, aunque también con un correcto conocimiento anatómico, y una buena calidad técnica, nos permite una adecuada evaluación de la cavidad uterina, y hacer un buen diagnóstico diferencial entre las variantes de la normalidad, y los hallazgos patológicos, que seguramente requerirán otras exploraciones

Histerosalpingography is the most commonly used technique in the evaluation of infertility. It has tradicionally been considered the gold standard for assessment of Fallopian tubes giving information about their patency and morphology. It is also recommended for the study of the uterine cavity. With a good knowledge about the anatomy and the variants of the normality, and a good technique, we can do a good differential diagnosis between normality and pathology, which probably it will need more tests

The "target sign": is it a specific sign of CNS tuberculoma?

In brain lesions, the target sign has been defined as a central nidus of calcification or central enhancement surrounded by a ring of enhancement. It has been considered a pathognomonic finding of central nervous system (CNS) tuberculoma. The purpose of this report is to demonstrate that the target sign related to central enhancement is a nonspecific finding and may lead to erroneous diagnosis of CNS tuberculoma.

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.

A series of patients affected by a muscular dystrophy, similar to the original description of a juvenile scapulo-humeral form by Erb in 1884 and fitting with the criteria used to define limb-girdle muscular dystrophies, was discovered in a small community living in the southern part of Reunion Island in the Indian Ocean. A detailed clinical analysis was conducted over 5 years on a cohort of 20 patients. This community presented a high degree of consanguinity as it was segregated from the majority of the island population for more than a century. In previous molecular genetic studies, the disease locus has been mapped to chromosome 15p. Mutations were recently identified in a gene located in this region encoding for muscle-specific calcium activated neutral protease (CANP3). Clinical, pathological, genetic and complete identification of the mutations are presented here, establishing, for the first time, precise clinico-genetic correlations in this form of autosomal recessive, juvenile, limb-girdle muscular dystrophy (LGMD).