Primary mucosal melanoma presenting with a unilateral nasal obstruction of the left inferior turbinate

We report the case of a primitive nasal melanoma in an 82-year-old patient, showing how this rare malignancy, with non-specific signs and symptoms, can represent a challenging diagnosis for the physician. A 82-year-old Caucasian patient presented for unilateral nasal obstruction and occasional epistaxis. Computerized tomography (CT) and magnetic resonance imaging (MRI) of the facial massif revealed turbinate hypertrophy and a polypoid phlogistic tissue isointense in T1 with an intermediate signal in T2 and Short-TI Inversion Recovery (STIR)-T2, occupying the middle meatus and the anterior upper and lower left meatus with partial obliteration of the ostium and the infundibulum of the maxillary sinus. The Positron emission tomography (PET) exam was negative for metastases. Conservatory surgery in the left anterior video rhinoscopy was performed, allowing a radical 4-cm tumor excision. Histology reported epithelioid cell melanoma, PanK−, CD45−, and PanMelanoma+. Adjuvant radiotherapy was suggested, even considering a complete resection as the result of surgery. No local or systemic relapse was noticed at the 2-month follow-up visit. Although mucosal melanoma is a rare and aggressive malignancy characterized by a poor prognosis, early diagnosis allows a more conservative approach, with little surgical difficulty and no aesthetic effect. Our case raises awareness of the importance of early intervention even in those cases where the clinic symptoms and diagnostic images show uncertain severity

Randomized comparison of power Doppler ultrasound-directed excisional biopsy with standard excisional biopsy for the characterization of lymphadenopathies in patients with suspected lymphoma.

PURPOSE: The sensitivity of lymph node excisional biopsy requires validation. Power Doppler ultrasound (US) helps predict the malignant status of lymphadenopathies. We used power Doppler US to select for biopsy the lymph node most suspected of malignancy. PATIENTS AND METHODS: One hundred fifty-two patients having lymphadenopathies with clinical suspicion of lymphoma were divided into two well-matched groups and randomly assigned to undergo either standard or power Doppler US-directed lymph node excisional biopsy. RESULTS: Histology showed a malignancy in 64% of patients in the standard group (lymphoma, 49 patients; carcinoma, two patients) and in 87% of patients in the US-assisted group (lymphoma, 62 patients; carcinoma, one patient). There were significantly fewer biopsy-related complications in the assisted group than in the standard group. During the follow-up of the patients with lymph nodes reported as being reactive, 14 of 29 patients in the standard group were rebiopsied and were found to have lymphoma (13 patients) or carcinoma at the subsequent lymph node histology, whereas none of the patients in the assisted group (nine patients) required a second biopsy. Thus, biopsy provided false-negative results for malignancy in 21% of patients affected by lymphoma in the standard group and ever in the assisted group (P <.01). CONCLUSION: Power Doppler US is an accurate tool for screening lymphadenopathies to be removed by excisional biopsy in patients with suspected lymphoma

CRL4A-FBXW5-mediated degradation of DLC1 Rho GTPase-activating protein tumor suppressor promotes non-small cell lung cancer cell growth

The DLC1 tumor suppressor gene is commonly lost in cancer by genomic deletion or epigenetic silencing, leading to loss of gene transcription. DLC1 encodes a GTPase-activating protein for the RhoA small GTPase, and DLC1 loss of expression results in aberrant RhoA activation and signaling. Unexpectedly, we found that a subset of non-small cell lung cancer patient tumors and cell lines retained DLC1 mRNA but not protein expression. We determined that the CUL4A–DDB1–FBXW5 E3 ubiquitin ligase complex is responsible for loss of DLC1 protein expression. Suppression of FBXW5 function restored DLC1-dependent lung cancer cell growth suppression. Our observations identify a mechanism for posttranslational loss of DLC1 function in cancer and substrate for CRL4A-FBXW5–driven cancer growth

Blood ammonia levels in liver cirrhosis: a clue for the presence of portosystemic collateral veins

<p>Abstract</p> <p>Background</p> <p>Portal hypertension leads to the formation of portosystemic collateral veins in liver cirrhosis. The resulting shunting is responsible for the development of portosystemic encephalopathy. Although ammonia plays a certain role in determining portosystemic encephalopathy, the venous ammonia level has not been found to correlate with the presence or severity of this entity. So, it has become partially obsolete. Realizing the need for non-invasive markers mirroring the presence of esophageal varices in order to reduce the number of endoscopy screening, we came back to determine whether there was a correlation between blood ammonia concentrations and the detection of portosystemic collateral veins, also evaluating splenomegaly, hypersplenism (thrombocytopenia) and the severity of liver cirrhosis.</p> <p>Methods</p> <p>One hundred and fifty three consecutive patients with hepatic cirrhosis of various etiologies were recruited to participate in endoscopic and ultrasonography screening for the presence of portosystemic collaterals mostly esophageal varices, but also portal hypertensive gastropathy and large spontaneous shunts.</p> <p>Results</p> <p>Based on Child-Pugh classification, the median level of blood ammonia was 45 mcM/L in 64 patients belonging to class A, 66 mcM/L in 66 patients of class B and 108 mcM/L in 23 patients of class C respectively (p < 0.001).</p> <p>The grade of esophageal varices was concordant with venous ammonia levels (rho 0.43, p < 0.001). The best area under the curve was given by ammonia concentrations, i, e., 0.78, when comparing areas of ammonia levels, platelet count and spleen longitudinal diameter at ultrasonography. Ammonia levels predicted hepatic decompensation and ascites presence (Odds Ratio 1.018, p < 0.001).</p> <p>Conclusion</p> <p>Identifying cirrhotic patients with high blood ammonia concentrations could be clinically useful, as high levels would lead to suspicion of being in presence of collaterals, in clinical practice of esophageal varices, and pinpoint those patients requiring closer follow-up and endoscopic screening.</p

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

SummaryWe describe a comprehensive genomic characterization of adrenocortical carcinoma (ACC). Using this dataset, we expand the catalogue of known ACC driver genes to include PRKAR1A, RPL22, TERF2, CCNE1, and NF1. Genome wide DNA copy-number analysis revealed frequent occurrence of massive DNA loss followed by whole-genome doubling (WGD), which was associated with aggressive clinical course, suggesting WGD is a hallmark of disease progression. Corroborating this hypothesis were increased TERT expression, decreased telomere length, and activation of cell-cycle programs. Integrated subtype analysis identified three ACC subtypes with distinct clinical outcome and molecular alterations which could be captured by a 68-CpG probe DNA-methylation signature, proposing a strategy for clinical stratification of patients based on molecular markers

Intrinsic laryngeal lipoma treated with transoral Co2 laser microsurgery: An unusual case report

Patient: Female, 28-year-old Final Diagnosis: Intrinsic laryngeal lipoma Symptoms: Dyspnoea Medication: — Clinical Procedure: — Specialty: Otolaryngology Objective: Mistake in diagnosis Background: Lipomas, the most common soft tissue tumors, represent almost half of all benign mesenchymal neoplasms and are characterized by the absence of symptoms. However, if they grow in a laryngeal site, they can cause dyspnea and dysphonia which represents one of the major symptoms of benign laryngeal diseases (such as polyps or nodules); these symptoms are often the first symptom of neoplastic diseases. Case report: We present a case of a 28-year-old female patient with a rounded pseudocyst neoformation located in the left aryepiglottic fold that partially hid the homolateral vocal cord and limited its mobility. Due to the site of the le-sion and MRI images showing a well-capsulated neoformation without contrast enhancement, we decided to surgically remove it with a micro-laryngoscopic approach after an evaluation of the patient’s upper airway by an anesthetist. This case demonstrates that a micro-endoscopic approach using transoral laser microsurgery for surgical excision was useful for removing the entire mass and avoiding relapses. Conclusions: Laryngeal lipomas are benign and rare lesions, in particular intrinsic lipomas are uncommon, but, if they grow, they can cause life-threatening symptoms. In our case, a lipoma reached a size of around 2 centimeters and was not pedunculated, only a histopathological examination of the surgical specimens could provide a differential diagnosis against a lipoma-like liposarcoma. The use of Transoral Laser CO2 Micro-laryngoscopy (TLM) provided good management of a small intrinsic lipomas of the larynx, minimizing the potential for relapses

Photophysical and Electrochemical Properties of Thiophene-Based 2-Arylpyridines

Two families of thiophene-based 2-arylpyridines, in which aryl is phenyl and 2,4-difluorophenyl, have been developed. The pyridine ring of the new compounds is substituted at the 4-position with \u3c0-conjugated electron-rich and electron-poor thiophene-based fragments to tune the optical and energetic properties. The high-yielding synthetic access, which consists of two sequential Suzuki coupling reactions, the first of which is completely regioselective, is of wide applicability and allows access to a large variety of derivatives. The absorption/emission and redox features, as well as the HOMO and LUMO energy levels, have been investigated; the results show that the optical and electronic properties can be tuned over a broad range. The diversity of the characteristics may be effectively exploited by using the thiophene-substituted 2-arylpyridines as ligands in cyclometalated sensitizers for dye-sensitized solar cells and other optoelectronic applications