Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a congenital condition characterized by agenesis of the uterus and vagina in females with normal ovaries and fallopian tubes, secondary sexual characteristics and 46XX karyotype. They present with primary amenorrhoea. Urinary anomalies, usually renal agenesis and rarely ectopia, occur. Skeletal abnormality can co-exist in about 10% of the patients. Simultaneous pulmonary hypoplasia has been reported very rarely in the literature. The normal external appearance of MRKH syndrome makes it difficult to diagnose until puberty. The purpose of this pictorial essay is to display the structural malformations of this rare disease. The presence of unilateral pulmonary agenesis is extremely rare. The use of invasive diagnostic laparoscopy and ionizing radiation, including intravenous urography or CT scan, has been reported in the literature for diagnosing MRKH. MRI is the mainstay of imaging in evaluating this syndrome, as it is free of radiation, non-invasive and has multiplanar capabilities.
Internal gold fiducials are necessary for tracking the translational and rotational movements of target lesions during stereotactic radiosurgery. The fiducials are generally placed under image guidance in and around the lesions by interventional radiologists. Specific challenges are encountered during the procedure. This article discusses the basic principles and techniques as well as the specific complications.
Purpose/Objective(s): Although most hepatocellular carcinoma (HCC) with macroscopic vascular invasion (MVI) is not considered resectable, some patients can receive subsequent curative surgical resection owing to downstaging by combined radiotherapy and transarterial chemoembolization (TACE). This study aims to analyze the long-term survival outcomes of patients with HCC showing MVI who underwent hepatic resection after combined radiotherapy and TACE. Materials/Methods: Between January 2010 and February 2016, a total of 652 HCC patients with macroscopic vascular invasion received combined radiotherapy plus TACE as a first-line treatment. Of these, the patients who underwent hepatic resection were retrospectively analyzed. Surgical resectability after combined treatment was determined by the hepatobiliary and transplant surgeons in the multidisciplinary team for liver cancer depended on the downstaging status and liver function. Results: Forty-two patients (6.4%) received hepatic resection after combined treatment. Thirty-eight (90.5%) were male and median tumor size was 9.2 cm (range, 3.1 e 30.4) at diagnosis. The extent of portal vein tumor thrombus was as follows: Vp2 in 12 patients, Vp3 in 16, and Vp4 in 11. Three patients had tumor invasion to the hepatic vein or inferior vena cava. The median interval between the combined treatment and surgical resection was 7 months (range, 1 e 36). Median follow-up periods for all patients and for survivals were 38 months (range, 7 e 109) and 81 months (range, 44 e 109), respectively. Five-year overall survival and progressionfree survival rates were 47.5%, and 24.2%, respectively. A major surgical complication was observed in 1 patient (hematoma), however, this was managed well with subsequent surgery. No mortality after surgery was observed in any patient. Conclusion: After combined radiotherapy and TACE, curative hepatic resection could be performed in selected patients with advanced HCC showing MVI, enabling long-term patient survival. Our findings suggest that hepatic resection might be considered after successful downstaging by combined treatment in patients with advanced HCC.
Background: Lung cancer is the poster child for advances in molecular oncology with a myriad of targeted therapies in NSCLC (non-small cell lung cancer) management. Kirsten rat sarcoma (KRAS) mutations are routinely isolated in NSCLC and account for a third of NSCLC oncogene driver tumors in Caucasian populations. The mutation is classically notorious to target with most therapies employed in management of KRASmut NSCLC being inhibitors of downstream signaling such as mitogen-activated protein kinase inhibitors (trametinib and selumetinib). There is a lacuna of information regarding prevalence and molecular epidemiology of KRAS mutations in NSCLC from an Indian context. Materials and Methods: The following study is a retrospective analysis of the incidence of KRAS epidemiology in high concentration epidermal growth factor receptor (EGFR) samples at a tertiary care hospital in South India from 2015 to 2017. Samples were selected following histopathological assessment and were subjected to nucleic acid extraction. KRAS mutation testing was performed using real-time polymerase chain reaction to ascertain the molecular epidemiology of KRAS in NSCLC patients. Results: KRAS mutations were observed in 15/44 NSCLC patients (34.09%) with a M:F ratio of 2:1. Majority of the mutations were single mutations, with 3 cases showing double mutations. Codon 12 mutations were observed in 6 cases followed by codon 146 mutations seen in 5 cases. Exon 3 (codon 59 and codon 61) and exon 4 (codon 117 and codon 146) were isolated in 5 and 3 cases, respectively. The current study demonstrated an elevated frequency for KRAS mutations in comparison to Asian cohorts. Conclusion: The advent of directly targeting KRAS inhibitors such as sotorasib (KRAS G12C inhibitor) necessitates KRAS mutation testing and warrants inclusion in the initial molecular workup of NSCLC.
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