Análisis de los factores radiopatológicos del cáncer de mama triple negativo y determinación de perfiles de riesgo / Analysis of the radio-pathological factors of triple negative breast cancer and determination of risk profiles

OBJETIVO: Los tumores triples negativos (TN) constituyen el subgrupo de cáncer de mama (CM) más agresivo. Nuestro objetivo es analizar los principales factores radiopatológicos de estos tumores para crear un perfil de riesgo. MATERIALES Y MÉTODOS: Es un estudio constituido por 140 pacientes diagnosticadas de CM TN desde enero del 2007 a diciembre del 2016. Se analizaron los factores radiológicos en resonancia magnética (RM) de estadificación: tamaño, necrosis, hallazgos asociados, adenopatías, parámetros de perfusión y difusión. En biopsias diagnósticas se estudiaron características del componente infiltrante: tipo histológico, Scarf-Bloom, Ki67 y p53 y el componente in situ. Se analizaron las adenopatías histológicamente positivas y en las piezas quirúrgicas: tamaño, invasión linfovascular/perineural y adenosis microglandular. El seguimiento finalizó en abril de 2018. Se evaluó la relación de los factores radiopatológicos con la recidiva y la supervivencia libre de enfermedad (SLE). RESULTADOS: Los tumores con tamaño igual o superior a 25 mm en RM, realce no nodular, edema mamario o retracción del complejo aréola-pezón y adenopatías presentaron más recidivas y menor SLE. Los carcinomas lobulillares infiltrantes, el tamaño posquirúrgico>20 mm y p53 <15% también se asociaron con la recidiva y una menor SLE. Las adenopatías histológicamente positivas se relacionaron con un mayor porcentaje de recidivas, y la invasión linfovascular, con una menor SLE. El análisis multivariante ha definido que el tamaño en RM>25 mm, el realce no nodular, las adenopatías en RM, y la expresión menor del 15% de p53 son variables pronósticas independientes. CONCLUSIONES: El tamaño igual o superior a 25 mm, realce no nodular y adenopatías en RM, y una expresión inferior al 15% de p53 condicionan una menor SLE

OBJECTIVE: Triple-negative tumors are the most aggressive type of breast cancer. We aimed to analyze the main radiologic and histopathologic factors of these tumors to create a risk profile. MATERIALS AND METHODS: We analyzed data from 140 patients diagnosed with triple-negative breast cancer between January 2007 and December 2016, with follow-up through April 2018. We analyzed the following variables in the breast MRI done for staging: size, necrosis, associated findings, adenopathies, and perfusion and diffusion parameters. We analyzed the following variables in histopathologic studies of biopsy specimens: histological type, Scarf-Bloom, Ki67, and p53 in the infiltrating component as well as in the in situ component. We analyzed the following variables in histopathologic studies of positive lymph nodes and surgical specimens: size, lymphovascular/perineural invasion, and microglandular adenosis. We analyzed the relation between the radiologic and histopathologic factors and recurrence and disease-free survival. RESULTS: MRI tumor size>25mm, non-nodular enhancement, breast edema, areola-nipple complex retraction, and lymph-node involvement were associated with recurrence and lower disease-free survival. Invasive lobular carcinoma, postsurgical size>20mm, and p53<15% were also associated with recurrence and lower disease-free survival. Histologically positive lymph nodes were associated with a greater percentage of recurrence and lymphovascular invasion and with lower disease-free survival. The multivariate analysis found that the variables MRI size>25mm, non-nodular enhancement, adenopathies on MRI, and p53 expression <15% were independent predictors of lower disease-free survival. CONCLUSIONS: In triple-negative breast tumors, factors associated with lower disease-free survival are non-nodular enhancement, size>25mm, and adenopathies on MRI, and p53 expression <15% on histopathologic study

Analysis of the radio-pathological factors of triple negative breast cancer and determination of risk profiles. / Análisis de los factores radiopatológicos del cáncer de mama triple negativo y determinación de perfiles de riesgo.

OBJECTIVE: Triple-negative tumors are the most aggressive type of breast cancer. We aimed to analyze the main radiologic and histopathologic factors of these tumors to create a risk profile. MATERIALS AND METHODS: We analyzed data from 140 patients diagnosed with triple-negative breast cancer between January 2007 and December 2016, with follow-up through April 2018. We analyzed the following variables in the breast MRI done for staging: size, necrosis, associated findings, adenopathies, and perfusion and diffusion parameters. We analyzed the following variables in histopathologic studies of biopsy specimens: histological type, Scarf-Bloom, Ki67, and p53 in the infiltrating component as well as in the in situ component. We analyzed the following variables in histopathologic studies of positive lymph nodes and surgical specimens: size, lymphovascular/perineural invasion, and microglandular adenosis. We analyzed the relation between the radiologic and histopathologic factors and recurrence and disease-free survival. RESULTS: MRI tumor size>25mm, non-nodular enhancement, breast edema, areola-nipple complex retraction, and lymph-node involvement were associated with recurrence and lower disease-free survival. Invasive lobular carcinoma, postsurgical size>20mm, and p53<15% were also associated with recurrence and lower disease-free survival. Histologically positive lymph nodes were associated with a greater percentage of recurrence and lymphovascular invasion and with lower disease-free survival. The multivariate analysis found that the variables MRI size>25mm, non-nodular enhancement, adenopathies on MRI, and p53 expression <15% were independent predictors of lower disease-free survival. CONCLUSIONS: In triple-negative breast tumors, factors associated with lower disease-free survival are non-nodular enhancement, size>25mm, and adenopathies on MRI, and p53 expression <15% on histopathologic study.

Análisis de los factores radio-patológicos y terapéuticos del cáncer de mama triple negativo y su influencia en la recidiva y supervivencia libre de enfermedad / Analysis of the radiopathological and therapeutic factors in triple-negative breast cancer and their influence on relapse and disease-free survival

Objetivo. Analizar la asociación entre la densidad mamográfica, la invasión linfovascular, la adenosis microglandular y el estado ganglionar de los tumores triples negativos (TN) con la recidiva tumoral y la supervivencia libre de enfermedad. Estudiar si la perfusión tumoral en las RM de estadificación se correlaciona con la recidiva tumoral, la supervivencia libre de enfermedad o los valores de restricción a la difusión. Analizar si la administración de quimioterapia neoadyuvante (QTN) o el tipo de tratamiento quirúrgico (cirugía conservadora o mastectomía) se asocian a un peor pronóstico. Pacientes y métodos. Estudio retrospectivo de las mamografías y de las RM pretratamiento de 122 pacientes con tumores TN entre los años 2007 y 2014. Se valoró la densidad mamaria en estudios mamográficos realizados en el momento del diagnóstico. El estado ganglionar se analizó en muestras de biopsia o quirúrgicas, mientras que la invasión linfovascular y la adenosis microglandular se estudió únicamente en muestras quirúrgicas. Resultados. La densidad mamográfica y los factores anatomo-patológicos no se asociaron con la recidiva tumoral. Los valores de realce máximo en la secuencia dinámica eran más altos en las pacientes sin recidiva tumoral (p=0,028), sin demostrar relación con la restricción a la difusión. Conclusiones. Los tumores con valores más altos de realce interno en RM de estadificación presentan un menor índice de recidivas. No se demostró correlación entre los valores de realce interno tumoral y de restricción a la difusión. Y no se observó asociación pronóstica con el resto de factores radio-patológicos (AU)

Objective. To analyse the association between breast density, lymphovascular invasion, microglandular adenosis and the axillary node status of triple-negative tumours (TN) with tumour recurrence and disease-free survival. To study whether tumour perfusion in MRI staging correlates with tumour recurrence, disease-free survival or diffusion restriction. To analyse whether the administration of neoadjuvant chemotherapy (NC) or the type of surgical treatment (breast-conserving surgery or mastectomy) are associated with a worse prognosis. Patients and methods. A retrospective study of mammograms and staging MRIs was performed from 2007 to 2014, including 122 women with TN breast cancer. Breast density was assessed in mammographic studies performed at the time of diagnosis. Lymph node status was analysed in biopsy or surgical specimens, whereas lymphovascular invasion and microglandular adenosis were studied only in surgical specimens. Results. Breast density and histopathological factors were not associated with tumour recurrence. The maximum enhancement values in the dynamic sequence were higher in patients without tumour recurrence (P=.028), without demonstrating a relationship with diffusion restriction. Conclusions. Tumours with higher values of internal enhancement showed less tumour recurrence. There was no correlation between the values of internal tumour enhancement and diffusion restriction. No prognostic association was observed with the remaining radiopathological factors (AU)

Sarcoma sinovial renal primario: presentación de un caso con estudio molecular / Synovial sarcoma of the kidney: a case report with molecular analysis

El sarcoma sinovial (SS) renal fue descrito por primera vez por Argani et al. en el año 2000. Presentamos un caso de SS renal monofásico de grado intermedio. Se trata de un varón de 42 años que presentaba un tumor renal sólido-quístico de 6 cm bien delimitado, con un nódulo sólido de 1,5 cm. Se realizó nefrectomía parcial. El tumor se caracterizaba por células fusiformes monomorfas y quistes revestidos por células epiteliales en tachuela. Se observó infiltración focal de la grasa perirrenal que rodeaba el nódulo sólido. Las células fusocelulares expresaban CD99, BCL2, EMA y SMA, y eran negativas para S-100, CD34, receptores de estrógenos y progesterona, desmina y WT1. Las células en tachuela expresaban CD10, PAX8, PAX2, EMA, CKAE1-AE3, CK7 y CK19, confirmando que eran epitelio renal atrapado. Se realizó FISH que demostró la translocación t(X;18), específica del SS. El paciente ha recibido 4 ciclos de quimioterapia adyuvante y continúa libre de recurrencia o metástasis 9 meses tras la intervención (AU)

Synovial sarcoma (SS) of the kidney was first reported by Argani et al. in 2000. We report a case of a renal monophasic SS of intermediate grade in 42-year-old man with a solid-cystic, well-circumscribed, 6 cm renal mass containing a solid nodule of 1.5 cm. Partial nephrectomy was performed. The tumour was characterized by monomorphic spindle cells and cysts lined by trapped «hobnail» epithelial cells. Sections showed focal infiltration of perinephric fat surrounding the solid nodule. Spindle cells expressed CD99, BCL2, EMA and SMA and were negative for S-100, CD34, oestrogen and progesterone receptors, desmin and WT1. The 'hobnail epithelium' expressed CD10, PAX8, PAX2, EMA, CKAE1-AE3, CK7 and CK19, confirming its non-neoplastic and renal identity. FISH was performed and t(X;18) translocation, specific of SS, was demonstrated. The patient received 4 cycles of adjuvant chemotherapy and is alive without evidence of disease 9 months after surgery (AU)

The detection of SRSF2 mutations in routinely processed bone marrow biopsies is useful in the diagnosis of chronic myelomonocytic leukemia.

Diagnosis of chronic myelomonocytic leukemia (CMML) is based on a combination of clinical, laboratory, and morphological parameters, including persistent peripheral blood monocytosis. Recently, mutations of serine/arginine-rich splicing factor 2 (SRSF2) have been identified in 40% to 50% of CMMLs and occasionally in other myeloid disorders. In this study, we established a robust assay for the detection of SRSF2 mutations in decalcified, paraffin-embedded bone marrow (BM) biopsies and investigated its diagnostic utility. BM biopsies of 78 patients with myeloid neoplasms, including 36 CMMLs, 22 myelodysplastic syndromes (MDS), and 20 Ph- myeloproliferative neoplasms (MPN) were analyzed. The region around hot spot P95 in exon 1 of SRSF2 was amplified and bidirectionally sequenced. In addition, a restriction fragment length polymorphism analysis was established. The JAK2 V617F mutation was investigated by allele-specific polymerase chain reaction. SRSF2 mutations were identified in 16 (44%) of 36 CMMLs, including 1 of 3 cases with associated systemic mastocytosis, 4 (20%) of 20 Ph- MPN, and 1 (4.5%) of 22 MDS. Restriction fragment length polymorphism analysis detected all mutations with the exception of a single P95A. Of note, 2 cases of JAK2 V617F+ primary myelofibrosis with SRSF2 mutation initially were diagnosed as CMML based on significant peripheral blood monocytosis. In CMML, no correlation with histopathology and/or clinical parameters was observed, but SRSF2 mutations were associated with normal karyotype (P < .001). In summary, SRSF2 mutations are frequent in CMML and a useful diagnostic feature demonstrable in BM biopsies, allowing a definitive diagnosis for cases with minimal dysplasia and normal karyotype. The role of SRSF2 mutations in cases with hybrid features between primary myelofibrosis and CMML needs further investigation.

Utilidad de las técnicas de imagen en el diagnóstico de la fibrosis hepática congénita. A propósito de un caso / Usefulness of imaging techniques in the diagnosis of congenital hepatic fibrosis. A case report

La fibrosis hepática congénita (FHC) es una rara entidad congénita multisistémica, incluida en el grupo de las enfermedades fibropoliquísticas, que afecta principalmente al sistema hepatobiliar. Su forma de presentación suele ser poco específica y en ocasiones resulta muy difícil llegar a su correcto diagnóstico. Presentamos el caso de una paciente de 29 años de edad en estudio por hepatomegalia asintomática, aparentemente sin antecedentes clínicos de interés. Si bien el diagnóstico definitivo se realizó mediante una biopsia hepática, los hallazgos obtenidos con las técnicas de imagen pudieron ofrecer una adecuada aproximación al diagnóstico...

Utilidad de las técnicas de imagen en el diagnóstico de la fibrosis hepática congénita. A propósito de un caso / Usefulness of imaging techniques in the diagnosis of congenital hepatic fibrosis. A case report

La fibrosis hepática congénita (FHC) es una rara entidad congénita multisistémica, incluida en el grupo de las enfermedades fibropoliquísticas, que afecta principalmente al sistema hepatobiliar. Su forma de presentación suele ser poco específica y en ocasiones resulta muy difícil llegar a su correcto diagnóstico. Presentamos el caso de una paciente de 29 años de edad en estudio por hepatomegalia asintomática, aparentemente sin antecedentes clínicos de interés. Si bien el diagnóstico definitivo se realizó mediante una biopsia hepática, los hallazgos obtenidos con las técnicas de imagen pudieron ofrecer una adecuada aproximación al diagnóstico...(AU)