Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, BAP1 Gene Expression Profile and Patient Outcome.

Rhabdoid meningiomas (RM) are a rare meningioma subtype with a heterogeneous clinical course which is more frequently associated with recurrence, even among tumors undergoing-complete surgical removal. Here, we retrospectively analyzed the clinical-histopathological and cytogenetic features of 29 tumors, from patients with recurrent (seven primary and 14 recurrent tumors) vs. non-recurrent RM (n = 8). Recurrent RM showed one (29%), two (29%) or three (42%) recurrences. BAP1 loss of expression was found in one third of all RM at diagnosis and increased to 100% in subsequent tumor recurrences. Despite both recurrent and non-recurrent RM shared chromosome 22 losses, non-recurrent tumors more frequently displayed extensive losses of chromosome 19p (62%) and/or 19q (50%), together with gains of chromosomes 20 and 21 (38%, respectively), whereas recurrent RM (at diagnosis) displayed more complex genotypic profiles with extensive losses of chromosomes 1p, 14q, 18p, 18q (67% each) and 21p (50%), together with focal gains at chromosome 17q22 (67%). Compared to paired primary tumors, recurrent RM samples revealed additional losses at chromosomes 16q and 19p (50% each), together with gains at chromosomes 1q and 17q in most recurrent tumors (67%, each). All deceased recurrent RM patients corresponded to women with chromosome 17q gains, although no statistical significant differences were found vs. the other RM patients.

Primary Cutaneous Acral CD8-Positive Lymphoproliferative Disorder: A Case Report With Nonacral Presentation.

In this study, we describe a patient of primary cutaneous acral CD8-positive lymphoproliferative disorder located in a nonacral region. A 65-year-old male presented with an ill-defined lesion of rubbery consistency and a maximum diameter of 2.5 cm localized in the right thigh. Histologically, it was composed of a diffuse dermal infiltration of medium-sized atypical lymphocytes that expressed CD3, CD8, and TIA-1. In addition, a characteristic paranuclear positivity with CD68 was observed. During the follow-up, the patient had a recurrence of the disease in the abdomen with a lesion showing similar morphology and phenotype. To our knowledge, < 20 patients of primary cutaneous acral CD8-positive lymphoproliferative disorder with a nonacral presentation have been described in English literature. Although rare, its identification is essential to differentiate it from other T-cell lymphoma that express CD8 and cytotoxic markers, and whose clinical courses are very aggressive.

Estudio del ganglio centinela en el cáncer de mama por el método OSNA (One-Step Nucleic Acid Amplification) tras neoadyuvancia en el Hospital Universitario de Navarra / Sentinel lymph node study in breast cancer using the OSNA (one-step nucleic acid amplification) method after neoadjuvant treatment at Hospital Universitario de Navarra

Introducción: la biopsia selectiva de ganglio centinela (GC) es la técnica estándar para la estadificación axilar en el cáncer de mama. No hay consenso en el empleo del método OSNA (One-Step Nucleic Acid Amplification) para el análisis del GC en las pacientes que recibieron el tratamiento neoadyuvante (TNA). En este trabajo analizamos los resultados obtenidos con OSNA en estas pacientes para justificar su implantación en nuestro centro. Material y métodos: se seleccionaron 42 casos del grupo de 163 pacientes con CM tratadas con TNA en nuestro centro, a las que se realizó OSNA del GC, obteniéndose una media de 2,1 ganglios por paciente. Se analizó además la expresión de citoqueratina 19 (CK19), grado tumoral, fenotipo molecular y el grado de respuesta al TNA de estas pacientes. Se estudiaron los GC mediante técnica OSNA y los no centinelas por el método tradicional. Resultados: el grado tumoral fue 2-3 en el 97,6% de los casos, el fenotipo luminal A (17%), luminal B (38%), triple-negativo (26,1%) y HER2 (19%). La respuesta al TNA fue completa en el 59,5% de las pacientes y la expresión de CK19 no se vio modificada. Los ganglios estudiados fueron positivos en 9 pacientes (21,4%) en las que posteriormente se realizó una linfadenectomía y un único caso presentó ganglio no centinela afecto (2,3%). Conclusiones: el método OSNA para el estudio del GC tras el TNA es muy superior al método tradicional, ya que permite la detección intraoperatoria de grupo celular aislado y micrometástasis no detectables con los métodos tradicionales, evitando segundas intervenciones y falsos negativos al analizarse completo el GC, y demuestra que no se altera la expresión de CK19 con el TNA. (AU)

Background: Selective sentinel node (SN) biopsy is the standard technique for axillary staging in breast cancer (BC). There is no consensus on the use of OSNA (One-Step Acid Nucleic Amplification) method for SN in patients undergoing neoadjuvant treatment (NAT). We have studied the results obtained in our centre to justify the advantages of its implementation. Material and methods: 42 cases were selected from the group of 163 patients with BC treated with NAT, who underwent OSNA of the SN, obtaining a mean of 2.1 nodes per patient. We also analyzed cytokeratin 19 (CK19) expression, tumour grade, molecular phenotype and the degree of response to NAT in these patients. The SN were studied using the OSNA technique and non-sentinel nodes using the traditional method. Results: Tumour grade was 2-3 in 97.6% of cases, phenotype luminal A (17%), luminal B (38%), triple-negative (26.1%) and HER2 (19%). The response to NAT was complete in 59.5% of patients and CK19 expression was unchanged. The nodes studied were positive in 9 patients (21.4%) in whom lymphadenectomy was performed and only one case had a non-sentinel node involvement (2.3%). Conclusions: The OSNA method for the study of SN after NAT is far superior to the traditional method as it: It allows intraoperative detection of isolated cell group and micrometastases not detectable with traditional methods, avoiding second interventions. It avoids false negatives when the whole SN is analyzed. It shows that CK19 expression is not altered by NAT. (AU)

Clinical, Histopathologic and Genetic Features of Rhabdoid Meningiomas.

Rhabdoid meningiomas (RM) shows heterogeneous histological findings, and a wide variety of chromosomal copy number alterations (CNA) are associated with an unpredictable course of the disease. In this study, we analyzed a series of 305 RM samples from patients previously reported in the literature and 33 samples from 23 patients studied in our laboratory. Monosomy 22-involving the minimal but most common recurrent region loss of the 22q11.23 chromosomal region was the most observed chromosomal alteration, followed by losses of chromosomes 14, 1, 6, and 19, polysomies of chromosomes 17, 1q, and 20, and gains of 13q14.2, 10p13, and 21q21.2 chromosomal regions. Based on their CNA profile, RM could be classified into two genetic subgroups with distinct clinicopathologic features characterized by the presence of (1) chromosomal losses only and (2) combined losses and gains of several chromosomes. The latter displays a higher frequency of WHO grade 3 tumors and poorer clinical outcomes.