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.

Mutational profiling can identify laryngeal dysplasia at risk of progression to invasive carcinoma.

Early diagnosis of laryngeal squamous cell carcinoma (LSCC) at the stage of dysplasia could greatly improve the outcome of affected patients. For the first time we compared the mutational landscape of non-progressing dysplasia (NPD; n = 42) with progressing dysplasia (PD; n = 24), along with patient-matched LSCC biopsies; a total of 90 samples. Using targeted next-generation sequencing identified non-synonymous mutations in six genes (PIK3CA, FGFR3, TP53, JAK3, MET, FBXW7), and mutations were validated by Sanger sequencing and/or qPCR. Analysis was extended in silico to 530 head and neck (HNSCC) cases using TCGA data. Mutations in PIK3CA and FGFR3 were detected in PD and LSCC cases, as well as other HNSCC cases, but absent in NPD cases. In contrast, mutations in JAK3, MET and FBXW7 were found in NPD cases but not PD, LSCC or other HNSCC cases. TP53 was the most frequently mutated gene in both PD and NPD cases. With the exception of R248W, mutations were mutually exclusive. Moreover, five of seven PD mutations were located in motif H2 of p53, whereas none of the NPD mutations were. In summary, we propose that the mutational profile of laryngeal dysplasia has utility for the early detection of patients at risk of progression.

Blastoma pleuropulmonar: un tumor pediátrico infrecuente. A propósito de un caso y revisión de la literatura / Pleuropulmonary blastoma: an unusual pediatric tumor. Case report and review of literature

El blastoma pleuropulmonar (BPP) es un tumor disontogénicopediátrico muy raro y agresivo reconocido comoentidad clínico-patológica desde 1988 y del que se han descritoalrededor de 100 casos en la literatura mundial. Se clasificacomo tipo I, II y III en base a su naturaleza quística osólida. Presentamos un caso de una niña de 3 años con unatumoración que ocupa gran parte del hemitórax izquierdocon colapso del pulmón izquierdo y derrame pleural.Macroscópicamente es una masa sólida con áreas quísticasde 400 g y 15 cm de diámetro. Microscópicamente se tratade una tumoración mesenquimal de diferenciación divergentecon zonas blastematosas y mesenquimales que incluyediferenciación rabdomioblástica, fibroblástica, liposarcomatosay condroblástica-condroide. Su inmunofenotipomuestra positividad para desmina en extensas áreas deltumor, actina estriada en célula aisladas y S-100 en losfocos condroides. Marcadores neuroendocrinos negativos.Queratina positiva únicamente en las células epiteliales ymesoteliales de revestimiento atrapadas en el crecimientotumoral

Pleuropulmonary blastoma is an aggressive and extremelyrare pediatric dysontogenic tumor. It was firstly describedin 1988 and since then only about 100 cases havebeen reported. Based on of cystic or solid predominant features,type I, type II and type III were established. In thispaper a 3 yrs old female case is reported. The tumor massoccupied the main part of left hemithorax, collapsing lungand causing pleural effusion. Surgical specimen was a solidwith cystic areas, 400 g and 15 cm in main diameter mass.Microscopically it was a mesenchymal tumor showing blastematousareas and divergent differentiation with rhabdomyoblastic,fibroblastic, liposarcomatous and chondroblastic/chondroid components. Immunohistochemistry showedpositivity for desmin in wide areas, striated muscle actin inisolated cells and S-100 in chondroid foci. Neuroendocrinemarkers were negative. Cytokeratins were positive only inepithelial and mesothelial cells remaining within the tumor (AU)

Melanosis vaginal asociada a melanoma primario de vulva / Benign vaginal melanosis associated to primary melanoma of the vulva. Case report

Presentamos un caso de melanosis vaginal asociada a melanoma de vulva en una mujer de 69 años. Las dos lesiones pigmentarias surgen en la paciente de forma independiente y sin relación aparente. La mujer había sido tratada quirúrgicamente por un melanoma maligno primitivo de vulva con invasión a nivel IV de Clark y metástasis en una adenopatía inguinal. La lesión de melanosis vaginal se desarrolló tres años después de la vulvectomía radical. Además de la descripción del caso se realiza una revisión de la literatura y se comenta sus posibles implicaciones clínico-patológicas

A case of vulvar melanosis associated with primary vulvar melanoma in a 69 yr. old Caucasian woman is reported the two pigmentary lesions became manifest in the patient independently and had no apparent relationship. Firstly, the patient was treated by radical vulvectomy for a primitive vulvar melanoma, Clark’s stage IV with metastasis in an inguinal adenopathy. Three years after vulvectomy the patient developed the benign vaginal melanosis. A review of the literature and a discussion and comments on the clinico-pathological implications between both entities are included in this paper

Melanosis vaginal asociada a melanoma primario de vulva / Benign vaginal melanosis associated to primary melanoma of the vulva. Case report

Presentamos un caso de melanosis vaginal asociada a melanoma de vulva en una mujer de69 años. Las dos lesiones pigmentarias surgen en la paciente de forma independiente y sin relaciónaparente. La mujer había sido tratada quirúrgicamente por un melanoma maligno primitivode vulva con invasión a nivel IV de Clark y metástasis en una adenopatía inguinal. La lesión demelanosis vaginal se desarrolló tres años después de la vulvectomía radical. Además de la descripcióndel caso se realiza una revisión de la literatura y se comenta sus posibles implicacionesclínico-patológicas

A case of vulvar melanosis associated with primary vulvar melanoma in a 69 yr. old caucasianwoman is reported the two pigmentary lesions became manifest in the patient independentlyand had no apparent relationship. Firstly, the patient was treated by radical vulvectomy for a primitivevulvar melanoma, Clark’s stage IV with metastasis in an inguinal adenopathy. Three yearsafter vulvectomy the patient developed the benign vaginal melanosis. A review of the literatureand a discussion and comments on the clinico-pathological implications between both entitiesare included in this paper