Cytomorphologic findings of SMARCA4-deficient thoracic sarcoma/carcinoma: Report of two cases

Introduction/Objective SMARCA4-deficient thoracic sarcoma/carcinoma is a highly aggressive neoplasm characterized by SMARCA4 (chromatin remodeling complex) deficiency. It affects mostly smokers (85%) with a broad age range of presentation (mean age: 50 years). Most patients present with advanced disease and extensive involvement of thoracic structures. The cytomorphologic features of this entity have not been fully described. Methods/Case Report A 59-year-old female, former smoker, with a prior history of lung adenocarcinoma, presented with a new 2.8 cm right infrahilar nodule concerning for recurrence. The second patient, a 54-year-old male who is a smoker, presented with an 8.0 cm right perihilar mass extending into the right lung and mediastinum with encasement of the right main pulmonary artery. Cytologically, the smears from both aspirates were comprised of single cells and loosely cohesive clusters of ovoid to spindle cells with scant to moderate cytoplasm, stippled chromatin, and focally prominent nucleoli. Numerous mitotic figures were appreciated. Necrosis was present within the smear background. The cell block sections showed tumor cells arranged in glandular and focal papillary architecture with a myxoid background. In one case, intermediate to large-sized cells with focal cytoplasmic clearing and patchy extracellular metachromatic material were also noted. Rhabdoid morphology was not appreciated. Immunohistochemically, the tumor cells were at least focally positive for vimentin, TLE-1, SALL4, CK AE1/AE3 and TTF-1, while being negative for CK7, CK20, Napsin-A, SOX-10, p40 and neuroendocrine markers. Both tumors showed SMARCA4 (BRG1) loss of expression. Results (if a Case Study enter NA) N/A Conclusion While the cytomorphologic findings of SMARCA4-deficient thoracic sarcomas/carcinomas are not specific, the FNA diagnosis should be considered for any poorly differentiated neoplasm involving the lungs or mediastinum which should prompt an appropriate immunocytochemical work-up that includes SMARCA4/BRG1 assessment

Late Onset Acquired Prothrombin Complex Deficiency (APCD) in a 27 Days Old Infant: a Rare Case Report

Acquired prothrombin complex deficiency (APCD) is a disease that occurs due to a deficiency in the coagulation factors that make up the prothrombin complex (II, VII, IX, and X), which are highly dependent on the presence of vitamin K in carrying out their functions. This study uses a qualitative method with the type of case report. The sampling technique used in this study the author uses the Random Sampling technique or by using the Slovin formula in Husein Umar. Where each population has the same opportunity to be selected as a sample in this study. Based on the analysis and discussion, it can be concluded that APCD is a disease with a high mortality rate, and those who survive are also threatened with disability for the rest of their lives. So that early detection and holistic treatment need to be done to prevent death and disability.

Mesenchymal/non-epithelial mimickers of neuroendocrine neoplasms with a focus on fusion gene-associated and SWI/SNF-deficient tumors

Mimickers of neuroendocrine neoplasms (NEN) include a number of important pitfall tumors. Here, we describe our experience with mesenchymal mimics of NENs to illustrate their spectrum and draw the attention particularly to a group of mesenchymal/non-epithelial neoplasms (MN) that combine epithelioid histology with neuroendocrine (NE-) features and peculiar genetic abnormalities. In a consultation series of 4498 cases collected between 2009 and 2021, 2099 neoplasms expressing synaptophysin and/or chromograninA were reviewed and analyzed. A total of 364 (18%) were diagnosed as non-NENs, while the remaining tumors were NEN. The group of mesenchymal/non-epithelial neoplasms with NE-features (MN-NE) included 31/364 (8%) cases. These mostly malignant neoplasms showed an epithelioid morphology. While all but one tumor expressed synaptophysin, mostly patchy, only 10/29 (34%) co-expressed chromograninA. A total of 13/31 (42%) of the MN-NE showed EWSR1-related gene fusions (6 Ewing sarcomas, 5 clear cell sarcomas, and 1 desmoplastic small round cell tumor, 1 neoplasm with FUS-CREM gene fusion) and 7 (23%) were SWI/SNF (SMARCB1 or SMARCA4)-deficient neoplasms. The remaining MN-NE included synovial sarcoma, sclerosing epithelioid mesenchymal neoplasm, melanoma, alveolar soft part sarcoma, solitary fibrous tumor, and chordoma. A total of 27/31 MN-NE were from the last 8 years, and 6 of them were located in the pancreas. Eleven MN-NE were initially diagnosed as neuroendocrine carcinomas (NECs). MN-NE with epithelioid features play an increasing role as mimickers of NECs. They mostly belong to tumors with gene fusions involving the EWSR1 gene, or with SWI/SNF complex deficiency. Synaptophysin expression is mostly patchy and chromograninA expression is infrequent in MN-NE of this series and data extracted from literature.

Angular Cheilitis pada Anak yang Mengalami Defisiensi Nutrisi

Nutritional problems in Indonesia and developing countries in general are still dominated by the protein energy malnutrition (PEM) and other micronutrient problems such as iron deficiency and vitamin B complex deficiency. Nutritional deficiency is always accompanied by malnutrition in childhood. Children face the greatest risk of developing malnutrition. This can lead the children to become susceptible to infectious diseases. One of the most common oral infections in children with nutritional deficiencies is angular cheilitis. This study was aimed to review nutritional deficiencies in children with angular cheilitis. This was a literature review study. This study reviewed topics related to nutritional deficiencies in children from previous studies. There were 12 literature reviewed in this study consisting of 11 cross-sectional studies and one simple experimental study. The results showed that angular cheilitis was more common in children with malnutrition based on BMI for age measurement and moderate nutritional status based on MUAC measurements. Angular cheilitis type 1 were most commonly found in children with mild nutritional status, while types 2, 3 and 4 were most commonly found in children with moderate nutritional status. None of types 2, 3, and 4 were seen in children with good nutritional status. In conclusion, children with angular cheilitis are mostly deficient in vitamin B complex.Keywords: angular cheilitis, children, nutritional deficiencies Abstrak: Masalah nutrisi di Indonesia dan di negara berkembang pada umumnya masih didominasi oleh masalah kurang energi dan protein (KEP) serta masalah nutrisi mikro lainnya seperti defisiensi zat besi dan defisiensi vitamin B kompleks. Defisiensi nutrisi selalu dihubungkan dengan kekurangan gizi pada masa anak-anak. Anak-anak menghadapi risiko paling besar untuk mengalami kurang gizi. Defisiensi nutrisi dapat menyebabkan anak rentan terhadap penyakit infeksi. Salah satu penyakit infeksi rongga mulut yang sering terjadi pada anak dengan defisiensi nutrisi ialah angular cheilitis. Penelitian ini bertujuan untuk mengetahui gambaran defisiensi nutrisi pada anak dengan angular cheilitis. Jenis penelitian ialah suatu literature review. Penelitian ini mempelajari topik terkait defisiensi nutrisi pada anak dengan angular cheilitis dari penelitian-penelitian sebelumnya. Pustaka yang diulas dan dipelajari dalam penelitian ini sebanyak 12 pustaka yang terdiri dari 11 studi potong lintang dan satu eksperimental sederhana. Hasil penelitian menunjukkan bahwa lesi angular cheilitis lebih sering ditemukan pada anak dengan status gizi kurang berdasarkan pengukuran IMT/U dan status kurang nutrisi sedang berdasarkan pengukuran LLA. Lesi angular cheilitis tipe 1 paling banyak ditemukan pada anak dengan status kurang nutrisi ringan, sedangkan tipe 2, 3 dan 4 paling banyak ditemukan pada anak dengan status kurang nutrisi sedang dan tidak satu pun lesi tipe 2, 3, 4 terlihat pada anak dengan status nutrisi baik. Simpulan penelitian ini ialah anak dengan angular cheilitis paling banyak mengalami defisiensi nutrisi mikro vitamin B kompleks.Kata kunci: angular cheilitis, anak, defisiensi nutrisi

SWI/SNF-deficient undifferentiated/rhabdoid carcinoma of the gallbladder carrying a POLE mutation in a 30-year-old woman: a case report

Background Undifferentiated carcinoma of the biliary tract are highly aggressive malignancies. In other organs, a subgroup of undifferentiated carcinoma related to SWI/SNF complex–deficiency have been described. Case presentation A 30-year-old woman presented with rising inflammatory markers (C-reactive protein (CRP)). Ultrasound examination revealed a large tumor of the liver. A computed tomography scan was performed and was primarily interpreted as a tumor-forming liver abscess, possibly caused by gallbladder perforation. Subsequent liver segment resection was performed. Microscopic examination showed an undifferentiated carcinoma with rhabdoid morphology and prominent inflammatory infiltrate in the gallbladder base. With SWI/SNF immunohistochemistry, intact expression of SMARCB1, SMARCA4, ARID1A, but loss of SMARCA2 and PBRM1 was detected. Next-generation-sequencing detected KRAS, PBRM1 and ARID1B mutations, a deleterious splice-site mutation in the POLE-gene and a mutation in the TP53-gene. Conclusions We were able to demonstrate loss of SMARCA2 expression and mutations characteristic of an SWI/SNF-deficient carcinoma in a tumor derived from the gallbladder. This is the first reported case of an undifferentiated carcinoma with rhabdoid features in the gallbladder carrying a POLE mutation and SWI/SNF-deficiency of PBRM1 and SMARCA2.

Assessment of the nutritional status of adolescent girls aged between 15 to 18 years studying in government high school in Raipur, Chhattisgarh, India

Introduction: The prevalence of malnutrition among adolescent girls is high in India. Malnutritionhas long term effects on the physical and mental health of adolescents. Objectives: To find out theprevalence of underweight, overweight and stunting and correlate with a dietary pattern, socio-demographic profile and prevalence of clinical anemia and signs of vitamin and mineral deficiency.Method: This is a community-based cross-sectional observational study conducted for 1 year (Jan2019 – Dec 2019), including a total of 480 adolescent girls who were attending government highschool. Observations and Result: 480 girls were interviewed. As per WHO nutritional measurementcriteria, adolescent girls were classified as per their anthropometric criteria, 50.63% of girls weremoderately stunted and 7.29% had severe stunting. 7.29% of girls were in the category of severethinness, 36.04% had thinness and 9.37% were overweight. 28.12% had conjunctival pallor(anaemia), 4.80% had dental caries, 1.46% had vitamin B complex deficiency and 1.04% had signsof vitamin A deficiency. Conclusion: More than half of the (57.92%) late adolescent school girlswere stunted, 43.33% were having some form of thinness and 28.12% had clinical anaemia.Effective implementation of government programs such as the RKSK and Sabla Yojana program willbe a paradigm shift from the existing clinic-based services to promotion and prevention and reachingadolescents in their environment, such as in schools, families and communities. Skills-basednutrition education for the family and effective infection control and routine health assessment ofschool-going girls should be done.

Assessment of nutritional status of adolescent girls from 15-18 years in private high schools in Raipur, Chhattisgarh

Background: Adolescent period is a phase of human development comprising the change fromchildhood to adulthood. Nutritional requirements increase to a great extent during this period ascompared to the previous years of growth. Adolescence may represent a window of opportunity toprepare nutritionally for healthy adult life. The present study was intended to assess the nutritionalstatus of school-going adolescent girls. Materials and Methods: This one-year community-based,cross-sectional study was conducted in private high schools in an urban area of Raipur, Chhattisgarhamong 480 adolescent girls of 15-18 years. All the selected adolescent girls were personallyinterviewed with the help of a pre-designed and pre-tested questionnaire regarding age, type offamily, dietary habits and socioeconomic status. A three-day recall method was used to assessnutrient intake. The nutrient intake was calculated using tables of nutritive value of Indian foods.Results: As per WHO nutritional measurement criteria, children were classified as per theiranthropometric criteria as, 31.46% had moderate stunting and 4.38% were severely stunted. 2.71%had severe thinness, 27.92% were thin and 7.71% were overweight. The major morbidity amongstudy subjects was, 19.6% had conjunctival pallor(anaemia), 8.75% had dental caries, 6.46% hadVitamin B complex deficiency, 4.8% had angular stomatitis and 0.84% had Vitamin A deficiency.Conclusion: The present study recommends that efforts should be made to reduce the prevalenceof malnutrition among adolescent girls. For this regular health check-ups should be done at schoolswith the help of school authorities and hospitals.