Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.

Gynecological cancer accounts for an elevated incidence worldwide requiring responsiveness regarding its care. The comprehensive genomic approach agrees with the classification of certain tumor types. We evaluated 49 patients with gynecological tumors undergoing high-throughput sequencing to explore whether identifying alterations in cancer-associated genes could characterize concrete histological subtypes. We performed immune examination and analyzed subsequent clinical impact. We found 220 genomic aberrations mostly distributed as single nucleotide variants (SNV, 77%). Only 3% were classified as variants of strong clinical significance in BRCA1 and BRCA2 of ovarian high-grade serous (HGSC) and uterine endometrioid carcinoma. TP53 and BRCA1 occurred in 72% and 28% of HGSC. Cervical squamous cell carcinoma was entirely HPV-associated and mutations occurred in PIK3CA (60%), as well as in uterine serous carcinoma (80%). Alterations were seen in PTEN (71%) and PIK3CA (60%) of uterine endometrioid carcinoma. Elevated programmed death-ligand 1 (PD-L1) was associated with high TILs. Either PD-L1 augmented in deficient mis-matched repair (MMR) proteins or POLE mutated cases when compared to a proficient MMR state. An 18% received genotype-guided therapy and a 4% immunotherapy. The description of tumor subtypes is plausible through high-throughput sequencing by recognizing clinically relevant alterations. Additional concomitant assessment of immune biomarkers identifies candidates for immunotherapy.

Invasive mole in a perimenopausal woman with lung and vaginal metastases: A case report.

Gestational trophoblastic disease can result in serious complications and disease progression. Therefore, follow-up of such patients is essential for early detection of malignant trophoblastic tumors and to reduce mortality rate. Primary treatment is chemotherapy but hysterectomy should be considered in patients who have uncontrollable hemorrhage and hemodynamic instability.

Endometritis tuberculosa sin foco primario y dolor pélvico crónico / Tuberculous endometritis with no primary focus and chronic pelvic pain

Antecedentes: La tuberculosis genital y la endometritis tuberculosa es una forma de tuberculosis que continúa siendo frecuente en los países en desarrollo y habitualmente es secundaria a un foco primario pulmonar. Puede cursar de forma asintomática, o bien, producir síntomas como infertilidad primaria o secundaria, alteraciones menstruales o dolor pélvico crónico, entre otros. Caso clínico: Se presenta el caso de una paciente de 47 años en estudio por ginecología y urología por dolor pélvico crónico y sintomatología urinaria inespecífica de aproximadamente 6 meses de evolución. La ecografía transvaginal muestra contenido intracavitario escaso sugerente de piometra e imágenes trabeculares compatibles con sinequias uterinas. Mediante aspirado endometrial se extrae pus y muestra endometrial que se remite para estudio anatomopatológico. Tras el informe anatomopatológico que diagnostica inflamación crónica granulomatosa necrotizante, se solicita estudio por PCR y cultivo para micobacteriumm tuberculosis, siendo ambos positivos para el microorganismo. De este modo, se diagnosticó como endometritis tuberculosa sin existir afectación de otros órganos tras el estudio completo. Se realizó tratamiento con etambutol hidrocloruro, isoniacida, pirazinamida y rifampicina durante 2 meses y pirazinamida e isonicida durante 7 meses adicionales. Al final del tratamiento, la paciente mostraba clara mejoría de los síntomas y a la ecografía desaparición de la colección intracavitaria uterina.

Background: Genital tuberculosis and endometritis tuberculosa is a form of tuberculosis which remains prevalent in developing countries and is usually secondary to a pulmonary primary focus. It may be asymptomatic, or may produce symptoms such as primary or secondary infertility, menstrual disorders or chronic pelvic pain, among others. Clinical case: We present the case of a patient of 47-year who was studied by ginecology and urology for chronic pelvic pain and unspecific urinary symptoms since about 6 months. In transvaginal ultrasound pyometra and trabecular images compatible with uterine synechiae were observed. Endometrial samples were obtaining and sent for histopathologic examination which was informed of chronic necrotizing granulomatous inflammation. We asked for PCR and culture for tuberculosis micobacteriumm, both being positive for the microorganism. Thus, she was diagnosed of endometritis tuberculosa without involvement of other organs after complete study. She performed a treatment with ethambutol hydrochloride, isoniazid, rifampicin and pyrazinamide for 2 months and pyrazinamide and isoniazid for 7 months. At the end of treatment, the patient showed clear improvement of symptoms and disappearance of uterine intracavitary collection in the ultrasonographic study.

Ewing-like sarcoma with CIC-DUX4 gene fusion in a patient with neurofibromatosis type 1. A hitherto unreported association.

Sarcoma with CIC-DUX4 gene fusion is emerging as the most prevalent subset of Ewing-like undifferentiated small round cell sarcomas with around 50 cases published. We report hereby the case of a 40-year-old male who presented a CIC-DUX4 sarcoma in deep soft tissues in his thigh. He had been diagnosed with neurofibromatosis type 1 at age 19 and over the years underwent resection of multiple neural neoplasms, including two malignant peripheral nerve sheath tumors with classical spindle-cell histopathology. The CIC-DUX4 sarcoma was treated with surgical resection, radiation and chemotherapy, but lung and brain metastases developed and the patient died from the disease 14 months after diagnosis. This is the first case of sarcoma with CIC-DUX4 gene fusion reported in a patient with NF1. Whether this association is coincidental or CIC-DUX4 sarcomas could be related to NF1 remains to be clarified. Study of alternative molecular alterations in EWSR1-negative undifferentiated small round cell sarcomas is clinically relevant, since CIC-DUX4 sarcomas seem to be a very aggressive subset with poor response to the presently used therapeutic regimens.