Intracranial Infantile Hemangioma: Highlighting a Rare Presentation With a Case Report and Literature Review.

Infantile hemangioma is a common benign vascular tumor in children, but it is very unusual to be found intracranially. Our literature review identified 44 reported cases. Presentation can vary from asymptomatic to a life-threatening presentation that necessitates urgent surgical removal. There is no general consensus on management of these rare lesions and until recently, treatment was limited to surgery or pharmacological management with steroids, propranolol or interferon. We present a case of a four-week-old male infant with history of vomiting and increase in head circumference since birth. MRI of the brain revealed a large complex cyst occupying the right frontoparietal region, with round soft tissue component that is isointense on T1 and hyperintense on T2 weighted images. Complete surgical resection with evacuation of the cyst was achieved. Histopathology of the mass showed infantile hemangioma with positive CD31 on immunohistochemistry. The patient achieved an excellent outcome following surgical resection.

The Role of Ultrasound Features in Predicting the Breast Cancer Response to Neoadjuvant Chemotherapy.

Background Neoadjuvant chemotherapy (NACT) has become the standard of care for locally advanced breast cancer. This study investigates whether baseline ultrasound features can predict complete pathological response (pCR) after NACT. Methods This retrospective study was approved by the Institutional Review Board of King Abdulaziz University Hospital, Jeddah, Saudi Arabia, with a waiver of informed consent. Records of female patients aged over 18 years with locally advanced breast cancer treated with NACT from 2018 to 2020 were reviewed. Baseline ultrasound parameters were assessed, including posterior effect, echo pattern, margin, and maximum lesion diameter. Tumor grade and immunophenotype were documented from the core biopsy. pCR was defined as the absence of invasive residual disease in the breast and axilla. Univariate and multivariate analyses assessed the association between ultrasound features and pathological response. Results A total of 110 breast cancer cases were analyzed: 36 (32.7%) were estrogen receptor (ER)-positive/human epidermal growth factor 2 (HER-2) negative, 49 (44.5%) were HER-2 positive, and 25 (22.7%) were triple-negative (TN). A pCR was achieved in 20 (18%) of cancers. Lesion diameter was significantly different between pCR and non-pCR groups, 28.5 ± 12 mm versus 39 ± 18 mm, respectively, with an area under the curve (AUC) of 0.7, a confidence interval (CI) of 0.55-0.81, and a p-value of 0.01. No significant association was observed between ultrasound features, tumor grade, and immunophenotype with pCR. Conclusion Ultrasound features could not predict pCR. A smaller tumor diameter was the only significant factor associated with pCR. Further prospective studies combining imaging features from different modalities are needed to explore the potential of varying imaging features in predicting post-NACT pathological response more comprehensively.

The Contribution of Cell Blocks in the Diagnosis of Mediastinal and Hilar Lymphadenopathy Samples From Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration (EBUS-TBNA).

Background Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a diagnostic procedure that allows clinicians to stage lung cancer by sampling lymph nodes in the mediastinum. EBUS-TBNA is recommended as a first step prior to mediastinoscopy for lung cancer mediastinal staging. This procedure has greatly aided pulmonologists in diagnosing mediastinal pathologies with substantial progress. In this study, our aim is to analyze how cell blocks affect the diagnostic yield of mediastinal and hilar lymphadenopathy using an EBUS cytology needle. Methods This retrospective study was conducted at King Abdulaziz University Hospital between May 2021 and September 2021. Patients with mediastinal and hilar lymphadenopathy in the absence of known or suspected primary lung cancer were included. The EBUS procedure was performed using a flexible bronchoscope equipped with a working channel suitable for transbronchial needle aspiration under direct ultrasound guidance. Data were recorded using Microsoft Excel and analyzed using Statistical Package for the Social Sciences (SPSS) v. 26.0 (IBM Corp., Armonk, NY). Diagnostic accuracy measures were determined, and a p-value of 0.05 was established as the final threshold for statistical significance. Results The total number of patients in our study was 151. The sensitivity for cytology specimens, histology specimens, and a combined evaluation for the full group of patients was 77.14%, 83.33%, and 87.5%, respectively, with a negative predictive value of 27.22%, 25%, and 21.42%. The diagnostic accuracy for cytology specimens, histology specimens, and a combined evaluation was 71.42%, 76.19%, and 80%, respectively. Conclusion Our study found that the combined examination of specimens for both cytology and histology in the diagnosis of lung cancer, sarcoidosis, and tuberculosis resulted in a higher diagnostic yield compared to cytological assessment alone using EBUS-TBNA.

Accuracy of Classifying Lung Carcinoma Using Immunohistochemical Markers on Limited Biopsy Material: A Two-Center Study.

Introduction Accurate classification of lung cancer into primary and metastatic carcinomas is critical for treatment approaches. Immunohistochemistry (IHC) has always been pivotal in unveiling the diverse cell differentiation lineages present in lung cancer by using specific biomarkers such as TTF1 and p63/p40, which closely reflect the relationship between genotype and phenotype.. Methods A retrospective cross-sectional study was conducted to evaluate 57 Tru-Cut biopsies over two years, from 2020-2022. Tumour morphology was evaluated, and IHC for TTF-1, Napsin A, CK-7, P-63, P-40, and CD-56 was performed in two steps. Results Of the lung cancer cases, 58.5% were adenocarcinoma (ADC), 24.5% were squamous cell carcinoma (SCC), 9.4% were small cell carcinoma, and 7.5% were poorly differentiated carcinoma. TTF1 stain had sensitivity and specificity of 78.9% and 50% in 33 cases of ADC, respectively, while CK7 and Napsin A had 100% sensitivity. P63 stain had 77% sensitivity and 50% specificity in 15 cases of SCC, while P-40 had 100% sensitivity. The CD56 stain was 100% sensitive in five cases of small cell carcinoma. Conclusion IHC staining on small lung biopsies allows accurate sub-classification of poorly differentiated lung cancers; however, there is still significant variability. Surgical resection specimens can be further classified due to architectural features that biopsies lack. Morphological findings would be beneficial in the development of an algorithm for sub-classifying lung carcinoma using a variety of markers.

Diagnostic Accuracy of MRI in Evaluating Response After Neoadjuvant Systemic Therapy in Operable Breast Cancer.

Background Neoadjuvant chemotherapy (NAC) is an important step in the treatment of various types of breast cancer by downsizing the tumor to make it operable. Determining disease extent after NAC is essential for accurate surgical planning. MRI has been the gold standard for detecting tumors that are usually difficult to detect on ultrasound or mammography. However, the use of MRI after NAC is controversial. Therefore, we aimed to evaluate the diagnostic accuracy of post-NAC MRI in the detection of residual disease preoperatively and to investigate the factors associated with pathological complete response (pCR). Methodology This retrospective review study was approved by the institutional review board with waiving of the informed consent. A total of 90 charts between January 2016 and January 2019 were reviewed. Baseline lesion size was measured as the maximal diameter in a single dimension by pretreatment MRI. To assess the diagnostic accuracy of MRI in detecting residual disease, we used two different definitions of pCR in the breast. The first is the resolution of both invasive disease and ductal carcinoma in situ. The second is the resolution of the invasive disease only. As a secondary objective of the study, we assessed the association between different patients' characteristics and both MRI and pathologic response using univariate and multivariate analysis. Results A total of 52 women (mean age: 47.4 years; range: 28-74) with 56 breast masses were eligible for the study. Complete MRI response was noted in 22 (39%) masses. pCR was achieved in 14 (25%) and 25 (44.6%) masses using the first and second pCR definitions, respectively. The negative predictive value (NPV) and overall accuracy of MRI for detecting residual disease were 50% and 75%, respectively, using the first pCR definition. With the second pCR definition, NPV and accuracy were 77.3% and 76.8%, respectively. Positive axillary lymph nodes were the only significant factor associated with incomplete MRI and pathological responses. Conclusions MRI NPV for residual disease was higher with the second pCR definition; however, overall accuracy was not different. MRI accuracy in detecting residual disease after NAC is not adequate to replace pathological assessment.

Survival of Patients with Small Cell Lung Cancer in King Abdulaziz University Hospital, Jeddah, Saudi Arabia.

Background Lung cancer is estimated to be 12% of all new cases of cancer. It is one of the most common cancers in men and women, and it is the main cause of cancer-related death in the United States of America. More than 90% of small cell lung cancer (SCLC) patients are elderly, with a current or past history of smoking. In Saudi Arabia, lung cancer incidence is low as compared to the global incidence. In 2013, the age-standardized ratio (ASR) was 1.8 per 100,000 for females and 5.5 per 100,000 for males. In our study, we aimed to assess the outcomes of SCLC at King Abdulaziz University Hospital (KAUH), Jeddah, Saudi Arabia. Methods This retrospective cohort study included all patients aged 14 years and older with a diagnosis of SCLC from 2007 to 2017 using electronic medical records at KAUH. Data analysis was performed using Stata SE, version 15.0 (StataCorp LLC, TX). The primary outcome of this study was the survival of patients diagnosed with SCLC. Survival was defined as the time the patient lived in months from the date of pathological diagnosis to the date of the last follow-up or death. We included all variables in a univariate and multivariate analysis to determine the hazard ratio for each variable. Results In our study, we initially collected 193 lung cancer cases diagnosed during the period of 2007 to 2017 at KAUH, which was then narrowed to 22 after the selection of only SCLC cases. Data obtained showed 20 males (90.91%) and two females (9.09%), the median age of diagnosis was 64 years, and 45% of patients are active smokers, 9% are ex-smokers, and the smoking status of 41% of patients is unknown. Our data showed an overall median survival of 6.4 months (interval=11). Conclusion We observed that more than half of our patients who received chemotherapy showed improvement and a higher survival rate than those who didn't. In addition, 19% who received radiation therapy showed improvement and a higher survival rate than those who didn't. Future efforts to address the major issues that surround SCLC survivors, and to formulate a comprehensive survivorship care plan are required to develop better outcomes in survival and to improve the overall quality of life to pretreatment levels.

Frequent NFIB-associated Gene Rearrangement in Adenoid Cystic Carcinoma of the Vulva.

Adenoid cystic carcinoma is a rare malignant tumor that usually arises in the major and minor salivary glands and other locations containing secretory glands, including the lower female genital tract. Lower female genital tract carcinomas with adenoid cystic differentiation can be subclassified into 2 distinct groups based on the presence or absence of high-risk HPV. Cervical mixed carcinomas with some adenoid cystic differentiation are high-risk HPV-related but pure adenoid cystic carcinomas of vulvar and cervical origin appear to be unrelated to high-risk HPV. Mechanisms by which normal cells give rise to an HPV-unrelated adenoid cystic carcinoma remain largely unknown. Studies demonstrate that chromosomal translocation involving the genes encoding the transcription factors MYB and NFIB functions as a driving force of adenoid cystic carcinomas development regardless of anatomic site. The current study used fluorescence in situ hybridization with 3 different probes including MYB break-apart probe, NFIB break-apart probe, and MYB-NFIB fusion probe to assess for the presence of gene rearrangements in adenoid cystic carcinomas of the vulva. Six (66.7%) of 9 vulvar adenoid cystic carcinomas demonstrated NFIB rearrangement. Of these 6 cases with a disturbed NFIB, only 2 cases (33.3%) were positive for a MYB rearrangement that was also confirmed by a positive MYB-NFIB fusion pattern. NFIB-associated gene rearrangement is a frequent genetic event in vulvar adenoid cystic carcinomas. Chromosome translocations involving NFIB but with an intact MYB indicate the presence of novel oncogenic mechanisms for the development of adenoid cystic carcinomas of the vulva.

Histopathological features of endometrial carcinomas associated with POLE mutations: implications for decisions about adjuvant therapy.

AIMS: To characterize the histomorphological features of endometrial carcinomas (ECs) harbouring polymerase ε (POLE) mutations. METHODS AND RESULTS: Forty-three ECs with POLE mutations were compared with a cohort of 202 ECs. Most POLE-mutated ECs were endometrioid [34/43 (79%)]; the remaining tumours were mixed [6/43 (14%)], serous [2/43 (5%)], and clear cell [1/43 (2%)]. The endometrioid carcinomas were predominantly International Federation of Gynecology and Obstetrics grade 3 (27/43, 63%). The histotype distribution did not differ from that of control ECs (P = 0.69), but the grade of the EC was higher (P < 0.0005). Both nuclear grade and mitotic index were significantly higher in POLE-mutated ECs than in the comparison cohort. POLE-mutated ECs were associated with peritumoral lymphocytes and numerous tumour-infiltrating lymphocytes. Lymphovascular invasion was present in 20 of 43 tumours. Adjuvant radiotherapy and adjuvant chemotherapy would be offered in up to 80% and 40% of patients, respectively, on the basis of stage, grade, lymphovascular invasion, and histotype. CONCLUSIONS: POLE-mutated ECs are typically of high grade, with prominent lymphocytic infiltration, but they are not sufficiently distinctive to allow accurate diagnosis based on routine haematoxylin and eosin staining. Even though POLE-mutated tumours are associated with an excellent prognosis, current guidelines for giving adjuvant treatment for EC result in most patients receiving adjuvant therapy.