A Chromosome 9p24.1 Amplification in Colorectal Cancer with Metastases to the Kidney and Adrenal Gland: A Case Report.

Colorectal cancer (CRC) is the third leading cause of mortality worldwide. The Food and Drug Administration recently designated pembrolizumab, an immune checkpoint inhibitor (ICI) against a programmed death-1 receptor, as a breakthrough drug for the treatment of patients with mCRC whose tumors have deficient mismatch-repair gene expression (as evidenced by microsatellite instability-high) and patients with solid tumors with a high tumor mutational burden with ≥10 mutations/megabase. We present a patient with metastatic CRC having renal and adrenal gland metastases. Comprehensive molecular profiling performed on a site of metastatic CRC in the kidney revealed multiple genomic alterations characteristic of CRC and rare chromosome 9p24.1 amplification, resulting in a co-amplification of the PDL1, PDL2, and JAK2 genes. Although this genomic alteration may predict the response to ICI, the lack of pembrolizumab prevented the patient from receiving targeted treatment and succumbing to the disease.

Comprehensive genomic profiling of a metastatic small cell lung carcinoma with a complete and long-term response to atezolizumab: A case report.

Small cell lung cancer (SCLC) is a highly aggressive malignancy with a poor outcome. We present the case of a 57-year-old male patient with extensive-stage (ES-SCLC) treated with chemotherapy and atezolizumab. A complete response was achieved with a long remission of ∼three years. Comprehensive genomic profiling (CGP) of the tumor revealed high tumor mutation burden (13 mutations/Mb) and mutations of TP53, RB1 and ERCC4 genes. This case study confirms that a complete response to chemoimmunotherapy may be achieved in the case of ES-SCLC. It further provides the additional value of CGP and predictive testing in the management of ES-SCLC.

Personality dysfunction in opiate addicts on opioid substitution treatment and the risk of HCV infection.

Background: Impulsivity, affective instability, and neglect of oneself and other people's safety as symptoms of personality dysfunction are associated with risky behaviors regarding the transmission of infectious diseases either sexually or by intravenous drug abuse. Objective: The aim of this study was to analyze the association between hepatitis C virus (HCV) infection and personality dysfunction in opiate addicts on opioid substitution treatment. Methods: This was a cross-sectional, observational investigation of patients over 18 years of age who were actively participating in opioid substitution treatment at five centers in Bosnia and Herzegovina. The occurrence of HCV infection was the primary study outcome, and personality functioning, the main independent variable, was assessed using the Severity Indices of Personality Problems (SIPP-118) questionnaire. The association between scores of personality functioning domains items and HCV infection status was determined by binary logistic regression analysis. Results: Patients on opioid substitution therapy with HCV infection more frequently had personality disorders (OR 2.168, 95% CI 1.161-4.05) and were treated longer than patients without HCV infection (OR 1.076, 95% CI 1.015-1.14). HCV infection was associated with lower self-respect (OR 0.946, 95% CI 0.906-0.988), decreased capacity to have enduring relationships with other people (OR 0.878, 95% CI 0.797-0.966), and lower capability to cooperate with others (OR 0.933, 95%CI 0.888-0.98). On the other hand, except for self-respect, other elements of the Identity Integration domain (enjoyment, purposefulness, stable self-image, and self-reflexive functioning), when more functional, increased the risk of HCV infection. Conclusions: Our study demonstrates that opiate addicts on opioid substitution treatment have a higher risk of HCV infection if their personality is dysfunctional, especially in the aspects of self-respect, enduring relationships, and cooperativity. The risk is even higher in addicts who have an established diagnosis of any kind of personality disorder.

Concomitant Chemoradiotherapy Using Carboplatin and Etoposide-induced Cutaneous Vasculitis in a Patient with Small Cell Lung Cancer.

Drug-induced vasculitis occurs after drug exposure and consequent inflammation of small blood vessels which can lead to damage of affected tissue. Rare cases of drug-induced vasculitis during chemotherapy or concomitant chemoradiotherapy have been described in the literature. Our patient was diagnosed with stage IIIA (cT4N1M0) small cell lung cancer (SCLC). Four weeks after the application of the second cycle carboplatin and etoposide (CE) chemotherapy, the patient developed cutaneous vasculitis and rash on the lower extremities. CE chemotherapy was discontinued and symptomatic therapy with methylprednisolone was administered. On prescribed corticosteroid therapy, there was an improvement in local finding. After completion of chemoradiotherapy, the patient continued treatment with four cycles of consolidation chemotherapy with cisplatin (six cycles of chemotherapy in total). Clinical examination verified further regression of the cutaneous vasculitis. Elective radiotherapy of the brain was performed after completion of consolidation chemotherapy treatment. The patient was clinically monitored until disease relapse. Subsequent lines of chemotherapy for platinum-resistant disease were administered. The patient died seventeen months after diagnosis of SCLC. To our knowledge, this is the first described case of a patient who developed vasculitis of lower extremities during concomitant administration of radiotherapy and CE chemotherapy as a part of the primary treatment for SCLC.

Rare Human Epidermal Growth Factor Receptor 2 (HER-2)-Positive Neuroendocrine Carcinoma of the Breast: A Case Report with 9-Year Follow-up.

BACKGROUND Neuroendocrine carcinoma of the breast (NECB) is very rare, accounting for 0.1% of all breast tumors and less than 1% of all neuroendocrine tumors. Most NECBs are hormone receptor-positive and human epidermal growth factor receptor 2 (HER-2)-negative and more than 50% are the luminal B subtype. Because prospective studies of NECB are lacking, treatment is the same as for other breast tumors. CASE REPORT A 70-year-old woman was diagnosed with NECB in February 2011. She underwent radical right mastectomy and right axillary node dissection. Final histopathological examination revealed NECB with positive axillary nodes (N1). The tumor cells were 100% positive for estrogen receptors and 10% positive for progesterone receptors. The HER-2 status was 3+. According to the Tumor, Node, Metastasis (TNM) Classification of Malignant Tumors, the pathologic stage was IIB - pT2pN1cM0. The histologic grade was 2 and the Ki-67 proliferation index was 5.7%. The patient received adjuvant chemotherapy, radiation therapy, IV trastuzumab, and endocrine therapy. After 9 years of follow-up, she remains disease-free. CONCLUSIONS As far as we know, this is only the second report describing treatment of HER-2-positive NECB with trastuzumab. A literature review shows that it is the first report of treatment of HER-2-positive primary NECB with adjuvant trastuzumab. In similar cases, long-term follow-up is recommended because of the potential for multiple metastases of NECB even years after completion of adjuvant therapy.

CD44 Immunoexpression is Unfavorable Predictor in Ovarian Serous Cancer.

The aim of this study was to clarify the clinical role of CD44 expression in ovarian serous cancer, and its relation to clinicopathologic prognostic factors, disease free survival and overall survival (OS). Immunohistochemical staining for CD44 was performed on 81 formalin-fixed, paraffin-embedded tumor sections. CD44 expression was found in 43% of ovarian carcinoma samples. Correlations between categorical variables were studied using the χ and the Mann-Whitney U test. For survival analysis, the Kaplan-Meier method, the log-rank test and the Cox proportional hazard regression model were used. We did not find any statistically significant difference in the distribution of respondents according to clinical stage of the disease, tumor grade or the presence of vascular invasion in relation to the expression of CD44. According to the results of uninominal analysis, early International Federation of Gynecology and Obstetrics (FIGO) stage of the disease (P=0.003) was associated with longer disease free survival, while the expression of CD44 (P<0.001), FIGO stage III and IV (P=0.009) and the finding of vascular invasion (P=0.005) was related to a shorter OS. In conclusion, we proved that positive CD44 immunoexpression is a independent prognostic indicator of shorter OS of patients with ovarian serous cancer.