Distinct Gene Mutations Are Associated With Clinicopathologic Features in Urachal Carcinoma.

OBJECTIVES: To investigate the gene mutational profile of urachal carcinoma in correlation with its clinicopathologic features. METHODS: We analyzed genetic mutations in 30 cases of urachal carcinoma by next-generation sequencing (NGS) test. Histologic slides and clinical data were reviewed. RESULTS: The patients included 21 men and 9 women, with a mean age of 53 years (range, 24-75 years). The urachal carcinomas included mucinous (11), enteric (10), signet ring cell (8), and high-grade neuroendocrine (1) subtypes. Targeted NGS analysis demonstrated genetic mutations in all the urachal tumors (mean, 2; range, 1-4). TP53 was the most mutated gene (25), followed by KRAS (9) and GNAS (8) genes. TP53 mutations were more common in the signet ring cell subtype (7/8), and GNAS mutations were present only in the mucinous (5/11) and signet ring cell subtypes (3/8) but not in the enteric subtype (0/10). KRAS mutations were significantly associated with cancer stage IV (P = .02) and younger patient age (P = .046). Furthermore, the presence of KRAS mutations in urachal carcinoma portended a poorer overall survival (P = .006). CONCLUSIONS: Urachal carcinoma demonstrates frequent gene mutations that are associated with distinct clinicopathologic features. Gene mutation may underlie the development and progression of this aggressive disease.

Mucous Gland Adenoma: The Spectrum of Growth Patterns and the Diagnostic Challenges.

Mucous gland adenomas represent a small percentage of primary lung neoplasms. The accurate diagnosis of these benign tumors can be challenging not only on resected specimens but also more challenging in small bronchoscopic biopsies. If to that problem we add the issue that these tumors may also exist in the periphery of the lung, then it is easy to conclude that there is much difficulty in properly diagnosing these tumors with a core needle biopsy. Furthermore, there is little knowledge on the immunohistochemical properties and radiologic features of these tumors. Therefore, pathologists need to be aware of the spectrum of histopathologic features in these tumors and place them in perspective regarding the proper radiologic and immunohistochemical correlations. Needless to say, mucous gland adenomas exhibit a gamut of histopathologic features that can be easily confused with other more common tumor of the lung. Therefore, awareness of such features become essential in a benign tumor that is essentially diagnosed on morphologic grounds.

Primary mediastinal chondrosarcomas: do they really exist?

Chondrosarcomas primarily originating in the mediastinal compartment are vanishingly rare. Contrary to other unusual tumors of the mediastinum, chondrosarcomas have been described in either anterior or posterior mediastinum. The histopathological spectrum that has been described in these mediastinal tumors is similar to that described in soft tissues. In our current practice, diagnostic imaging plays an important role before any of these neoplasms is rendered as of mediastinal origin. It is also important to highlight that even though a tumor may be presenting as a mediastinal tumor, such information in essence does not constitute that the tumor is not in fact associated with another structure within the thoracic cavity, thus the importance of strict radiological correlation. Furthermore, molecular characterization of tumors that in the past were coded under the spectrum of chondrosarcomas, are now believed to represent different tumoral conditions, which raises important issues in tumor classification. Therefore, in this review, we will outline a more specific criteria regarding the diagnosis of chondrosarcomas, as wells as the essentials in the histopathological assessment of these tumors. In addition, we will discuss the current knowledge of these entities as well as their differential diagnosis, which inevitably will depend on the anatomic distribution of the tumor-anterior or posterior compartment.

Excision recommended in high-risk patients: Revisiting the diagnosis of papilloma on core biopsy in the context of patient risk.

We investigate the clinical history, past medical history, and risk status in women with benign intraductal papillomas(IDP). We observed an upgrade rate of 3.9% to ductal carcinoma in situ (DCIS) and upgrade rate of 10.7% to a high-risk lesion. Prior or concurrent atypia or cancer and high-risk status had a significant increase risk of upgrade. Surgical excision of papillomas is recommended especially in high-risk patients and women with concurrent or history of atypia or malignancy.

A case of vasculopathy of unknown etiology associated with fatal hydrops fetalis and review of the literature on intimomedial mucoid degeneration.

Non-immune hydrops fetalis (NIHF) has a high mortality rate [1]. Many etiologies of NIHF have been identified, including cardiovascular abnormalities, severe anemia, and genetic defects. In patients with cardiovascular etiology, structural malformations lead to fluid accumulation resulting in increased intravascular hydrostatic pressure. We report a fatal case of NIHF in a 31 week gestational age, Caucasian neonate with heart remodeling associated with a stenotic vasculopathy of the right pulmonary artery. The artery revealed partial occlusion with vascular wall abnormalities, including disarrayed smooth muscle fibers, hyperplasia within the tunica media, and myxoid change within the media and intima. Identical vasculopathy was also identified within a mesenteric artery, and this contributed to hemorrhage and early ischemic necrosis of the small intestine, discovered on postmortem examination.