Biomarkers in breast cancer: a consensus statement by the Spanish Society of Medical Oncology and the Spanish Society of Pathology

This consensus statement revises and updates the recommendations for biomarkers use in the diagnosis and treatment of breast cancer, and is a joint initiative of the Spanish Society of Medical Oncology and the Spanish Society of Pathology. This expert group recommends determining in all cases of breast cancer the histologic grade and the alpha-estrogen receptor (ER), progesterone receptor, Ki-67 and HER2 status, in order to assist prognosis and establish therapeutic options, including hormone therapy, chemotherapy and anti-HER2 therapy. One of the four available genetic prognostic platforms (MammaPrint®, Oncotype DX®, Prosigna® or EndoPredict®) may be used in node-negative ER-positive patients to establish a prognostic category and decide with the patient whether adjuvant treatment may be limited to hormonal therapy. Newer technologies including next-generation sequencing, liquid biopsy, tumour-infiltrating lymphocytes or PD-1 determination are at this point investigational

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The ever-evolving role of pathologists in the management of breast cancer with neoadjuvant treatment: recommendations based on the Spanish clinical experience

Purpose. To compare the current international standards for neoadjuvant systemic therapy (NAST) protocols, and establish consensus recommendations by Spanish breast pathologists; and to look into the Spanish reality of defining pathological complete response in daily practice. Materials and methods. A modified Delphi technique was used to gain consensus among a panel of 46 experts with regard to important issues about NAST specimens, with the objective of standardize handling and analysis of these breast cancer specimens. In addition, a survey was conducted among 174 pathologists to explore the Spanish reality of post-NAST breast cancer specimens handling. Results. Our survey shows that pathologists in Spain follow the same guidelines as their international colleagues and face the same problems and controversies. Among the experts, 94.1% agreed on the recommendation for a pre-treatment evaluation with a core needle biopsy, and 100% of experts agreed on the need of having properly indicated information for the post-NAST surgical specimens. However, only 82.7% of them receive properly labelled specimens and even less receive specimens where markers are identified and the degree of clinical/radiological response is mentioned. Among participants 59.9% were familiar with the residual cancer burden system for post-NAST response quantification, but only 16.1% used it regularly. Conclusions. Active participation on breast cancer multidisciplinary teams, optimal usage of core needle biopsy for timely and standardized procedures for the diagnostic analysis, and accurate diagnosis of pathological complete response and complete evaluation of the response to NAST need to become the standard practice when handling breast cancer specimens in Spain (AU)

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Molecular genetic heterogeneity in undifferentiated endometrial carcinomas.

Undifferentiated and dedifferentiated endometrial carcinomas are rare and highly aggressive subtypes of uterine cancer, not well characterized at a molecular level. To investigate whether dedifferentiated carcinomas carry molecular genetic alterations similar to those of pure undifferentiated carcinomas, and to gain insight into the pathogenesis of these tumors, we selected a cohort of 18 undifferentiated endometrial carcinomas, 8 of them with a well-differentiated endometrioid carcinoma component (dedifferentiated endometrioid carcinomas), and studied them by immunohistochemistry and massive parallel and Sanger sequencing. Whole-exome sequencing of the endometrioid and undifferentiated components, as well as normal myometrium, was also carried out in one case. According to The Cancer Genome Atlas classification, we distributed 95% of the undifferentiated carcinomas in this series as follows: (a) hypermutated tumors with loss of any mismatch repair protein expression and microsatellite instability (eight cases, 45%); (b) ultramutated carcinomas carrying mutations in the exonuclease domain of POLE (two cases, 11%); (c) high copy number alterations (copy-number high) tumors group exhibiting only TP53 mutations and high number of alterations detected by FISH (two cases, 11%); and (d) low copy number alterations (copy-number low) tumors with molecular alterations typical of endometrioid endometrial carcinomas (five cases, 28%). Two of the latter cases, however, also had TP53 mutations and higher number of alterations detected by FISH and could have progressed to a copy-number high phenotype. Most dedifferentiated carcinomas belonged to the hypermutated group, whereas pure undifferentiated carcinomas shared molecular genetic alterations with copy-number low or copy-number high tumors. These results indicate that undifferentiated and dedifferentiated endometrial carcinomas are molecularly heterogeneous tumors, which may have prognostic value.

Concordancia entre observadores en la detección por palpación de bocio en población escolar de 6 a 14 años / Interobserver agreement in detecting goitre in a school population between 6 and 14 years old

Fundamento: Estimar la concordancia entre observadores en la detección de bocio por palpación manual en la población escolar. Métodos. Durante un periodo de 5 meses durante el curso escolar 2001/2002 se estudió la presencia de bocio en una muestra representativa de 845 escolares de 6 a 14 años de 18 colegios de una Área de Salud de la Comunidad Valenciana. La exploración fue realizada de forma enmascarada por dos observadores (siempre los mismos). El tamaño tiroideo se estableció en seis grados (OA, OB, I, II, III y IV). Se consideró bocio a partir del grado OB inclusive. La concordancia se valoró en relación a variables como edad, sexo, masa corporal, y día de exploración. Se utilizó el índice kappa ponderado como medida de concordancia. Resultados. La prevalencia global de bocio fue del 40,4% según el observador 1o y de 36,8% para el 2o. La concordancia entre observadores tuvo un índice kappa de 0,83 (IC95% 0,78 - 0,88) y fue similar en relación al sexo, la masa corporal y el día de exploración. Según la edad de los niños: de 6 a 7 años (kappa 0,80; IC95% 0,69-0,91) de 12 a 14 años (kappa 0,85; IC95% 0,72 - 0,97). Conclusiones. Los observadores consiguieron una concordancia muy alta en la detección de bocio por palpación manual. La edad del niño influyó en el grado de concordancia con mayor dificultad en los más pequeños (AU)

Background: To estimate the agreement between observers on the detection of goitre by palpation in the school population because it is considered a variability test. Methods: For five months, during 2001/2002, the presence of goitre was studied in across-section sample of 845 school children (for 6 to 14 years old) from 18 school centres in a Health Area in Valentian Community. The exploration was always carried out by the same two observers. The thyroid size was established in 6 degrees. It was considered goitre since 0B inclusive. The agreement was assessed in relation to age, sex, IBM, and the exploration date. The Kappa Index was used as a measure of agreement. Results: The global prevalence of goitre was 40,4% according to the first observer and 36,8% to the second one. The agreement between observers was high, with a Kappa Index of 0.83 and it was similar in relation to sex, IBM, and the exploration date. It was smaller in the youngest children (six and seven years old) than in the oldest ones (from 12 to 14). Conclusions: An excellent interobserver agreement in clinic assessment of goitre by palpation in a school children population was achieved. The least concordance was seen in youngest group. It would be advisable to include the study of agreement in the protocol of endemic goitre study (AU)

[Cystic ureteritis in a kidney transplantation candidate]. / Ureteritis quística en paciente candidata a trasplante renal.

Cystic ureteritis is a very uncommon pathology, whose pathogenesis is not well established. It is usually asociated with chronic infectious factors. It presents unspecific symptoms but characteristic radiologic findings. There is not an especific treatment for this disease. Kidney transplant is the final pathway for patients with chronic renal failure. We report a case of cystic ureteritis diagnosed during pre-transplant study.

Ureteritis quística en paciente candidata a trasplante renal / Cystic ureteritis in a kidney trasplantation candidate

La ureteritis quística es una patología muy infrecuente, sin que hasta el momento se haya establecido su patogénesis exacta. Se presenta con sintomatología inespecífica, pero sin embargo los hallazgos radiológicos son bastante orientativos. No hay un tratamiento específico para estos pacientes, siendo el trasplante renal el paso final para los que desarrollen insuficiencia renal crónica terminal (IRCT).Presentamos un caso de ureteritis crónica diagnosticado durante el estudio pretrasplante de una paciente con IRCT (AU)

Cystic ureteritis is a very uncommon pathology, whose pathogenesis is not well established. It is usually asociated with chronic infectious factors. It presents unspecific symptoms but characteristic radiologic findings. There is not an especific treatment for this disease. Kidney trasplant is the final pathway for patients with chronic renal failure. We report a case of cystic ureteritis diagnosed during pre-trasplant study (AU)

Síndrome de Waterhouse-Friderichsen por Streptococcus pneumoniae / Fatal pneumococcal sepsis with Waterhouse-Friderichsen syndrome

Presentamos un caso de sepsis con síndrome de Waterhouse-Friderichsen, como forma de presentación de enfermedad neumocócica invasora en un niño previamente sano. El cuadro clínico evolucionó de forma fulminante y el paciente falleció a las 5 horas de su ingreso. El estudio necrópsico demostró apoplejía suprarrenal bilateral. Este caso demuestra que Streptococcus pneumoniae puede desencadenar un cuadro de sepsis fulminante con Síndrome de Waterhouse-Friderichsen en niños previamente sanos, siendo un cuadro clínico excepcional, muy poco descrito en la literatura científica. Debemos insistir en que es posible evitar la enfermedad neumocócica invasora en el niño, mediante la vacuna conjugada heptavalente, que ha demostrado ser segura y eficaz (AU)