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   Table of Contents - Current issue
September-October 2020
Volume 9 | Issue 5
Page Nos. 169-220

Online since Monday, October 12, 2020

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Gene mutation of childhood B-acute lymphoblastic leukemia: A systematic review p. 169
Parisa Naji, Mojgan Sheikhpour, Abolfazl Movafagh
Introduction: Research on the importance of cancer mainly been performed in acute lymphoblastic leukemia (ALL) B-cell populations. All B-cell is the most common leukemia occurs in 2–5-years old of children. Chromosome translocations, chromosome numerical alterations, and specific gene mutations are the genetic abnormalities which have found in 75% of B-ALL cases. Somatic mutations in 45 genes with different frequency and different cellular pathways were the subject of this investigation. Materials and Methods: An electronic search of peer-reviewed articles was systematically performed to obtain the relevant literature with the Cumulative Index to Nursing and Allied Health Literature, PsycINFO, and PubMed databases. In this systematic review, 48 articles from 1998 to 2020 were collected. The keywords included B-cell ALL, genes, mutations, pediatric, and systematic review. The inclusion criteria for the reviews were that the documents were original quantitative research and published in English. Articles that were not directly relevant to the present objective were excluded. Results: The results are limited to these specific them as B-cell, ALL, pediatric, genes, mutations, and systematic review. This article focused on the pediatric B-cell ALL, support of cancer patients from diverse and heterogeneous groups globally. By collecting the articles and reviewing them, alterations in different genes with different molecular pathways which had the effects on B-ALL pathogenicity were found and alteration list discussed. Conclusion: The present outcome of these review resources suggest that it may be helpful for clinicians to address genetics, epigenetic regulators, particularly with regard to prevention, healing, and survival of pediatric cancer patients. This article indicates that it may be useful for clinical oncologists to be informed of the prevalence of the use of mutated genes in medicine in their specialized field. In addition, patients should routinely be asked about the use of prevention medicine as the part of every cancer patient's evaluation.
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Histological spectrum of central nervous system lesions at a tertiary care center in India p. 175
Yookarin Khonglah, Darilin Shangpliang, Jaya Mishra, Aman Mustafa, Arindom Kakoti, Pranjal Phukan
Background: Central nervous system (CNS) lesions show considerable geographic and racial variations with respect to the incidence and their pattern of distribution. The histological spectrum of CNS lesions is broad and it varies among extremes of age groups. The study is aimed to determine the diversity of CNS lesions as well as to highlight the incidence and the histological spectrum of CNS lesions in a tertiary health center in India. Materials and Methods: A total of 238 CNS lesions were retrospectively analyzed in the Department of Pathology from October 2014 to November 2017. The specimens were processed by routine histotechniques, and immunohistochemistry (IHC) was performed whenever required. The diagnosis was confirmed by applying the existing World Health Organization classification. Results: Two hundred and thirty-eight cases of CNS lesions were analyzed, of which 33 (13.86%) cases were nonneoplastic, with the majority being cystic lesions 12 (36.36%). The neoplastic lesions comprised 205 (86.13%) cases, which included 200 (97.56%) primary and 5 (2.43%) metastatic lesions. Among the primary lesions, gliomas 57 (27.80%) were the most common followed by meningiomas 43 (20.97%) and schwannomas 37 (18.04%). Conclusion: The present study highlights the histological diversity of CNS lesions in both adult and pediatric age groups. Although with the advent of modern imaging techniques, a provisional diagnosis could be given to these diseases, histological examination with further utilization of IHC remains the gold standard in diagnosis and grading of all CNS lesions. This has further helped in management as well as the prognosis of these diseases.
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Bcl-2 expression in colorectal carcinoma and its correlation with clinicopathological parameters p. 182
Meena Bhardwaj, Kavita Mardi, Vijay Kaushal, Manika Sharma, Manju Rao
Background: Bcl-2 gene is a 26-kD protein that blocks apoptosis and inhibits programmed cell death. Its mutation is frequently detected genetic alteration, in human cancers. Its expression can easily be detected by immunohistochemistry (IHC). Objective: The objective was to estimate the frequency of Bcl-2 expression in colorectal carcinoma and its correlation with clinicopathologic parameters. Materials and Methods: The overexpression of Bcl-2 was studied in 112 paraffin-preserved colorectal carcinoma samples using E-17 clone antibody; Biogenex. The number of cells stained was scored semiquantitatively as none (no immunoreactive cells detectable), weak (1+, <5%), moderate (2++, 5%–50%), and intense (3+++, >50%). All tumors showing Bcl-2 immunoreactivity (at least +) were considered positive. The correlation between Bcl-2 protein expression and clinicopathological parameters was evaluated using Chi-square analysis. Results: Bcl-2 staining was positive in 45 of 112 cases. Of these, 15 cases were weak positive (score 1), 17 cases were moderately positive (score 2), and 13 cases were intensely positive (score 3) for Bcl-2 protein expression. Sixty-seven cases were negative for Bcl-2 staining (score 0). There was statistically significant correlation between Bcl-2 staining and sex (49% of females expressed Bcl-2 in tumors; P = −0.04), pathological type (mucinous vs. nonmucinous; P = −0.02), and tumor stage (P = −0.04). There was no significant correlation between Bcl-2 staining and age (P = −0.38), site of tumor (left colon vs. right colon; P = −0.13), pathological differentiation (P = −0.73), and between Bcl-2 scoring and tumor differentiation (P = −0.91). Conclusion: Bcl-2 protein seems to play an important role in the carcinogenesis of colorectal cancer. Considering the acceptable reliability and feasibility of IHC method for the detection of Bcl-2 immunoreactivity, this technique may be expected to serve as an important diagnostic and prognostic marker in colorectal carcinoma.
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Association between ICOS polymorphisms and immune thrombocytopenia in an Iranian population p. 186
Daryush Purrahman, Kaveh Jaseb, Gholam Abbas Kaydani, Najmaldin Saki
Context: Immune thrombocytopenia (ITP) is an autoimmune disease that is caused by the dysregulation of immune system, in which the circulating platelets (Plt) are destroyed by reticuloendothelial system, leading to hemorrhagic manifestations in patients. Aims: Recent studies have indicated that polymorphisms can contribute to ITP susceptibility and outcome. Given the importance of follicular helper T (Tfh) cells in ITP, we evaluated polymorphism in Inducible T-cell Costimulator (ICOS) as a Tfh surface marker among ITP patients to find a likely prognostic factor. Subjects and Methods: We recruited 54 ITP patients and 46 persons with no history of thrombocytopenia to conduct this case–control study. In addition to routine laboratory parameters, three polymorphisms, namely rs10932036, rs4404254, and rs10932037 of ICOS gene, were assessed by polymerase chain reaction. Statistical Analysis: Mann–Whitney, Kruskal–Wallis, and Chi-square tests were employed to compare and evaluate the data, and P < 0.05 indicated a statistically significant association. Results: The findings of our study showed that allele and genotype frequencies of all three polymorphisms in question were similar between case and control with no significant difference. However, our assessment indicated higher mean Plt counts in RS4404254 CC genotype than other genotypes under investigation. Conclusions: It seems that rs10932037, rs4404254, and rs10932036 polymorphisms of ICOS gene are not involved in susceptibility to ITP. Nevertheless, we found that those carrying RS4404254CC polymorphism have better prognosis due to higher Plt counts both in acute and chronic ITP patients.
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Role of micronucleus scoring in buccal smears of carcinoma breast cases - A study in rural central India p. 193
Shubhangi Natthuji Mangam, Abhay Vilas Deshmukh, Vitaladevuni Balasubramanyam Shivkumar
Background: Micronucleus (MN), a small additional nucleus represents a sensitive indicator of chromosomal damage. It can be detected in buccal cells with the use of Giemsa stain by light microscopy and acridine orange (AO) stain by fluorescent microscopy. Objective: The aim of this study was to analyze the MN score in buccal smears of infiltrating duct carcinoma (IDC) cases and fibroadenoma (FA) cases as a control group. Materials and Methods: It was a prospective observational study, which included 78 IDC cases and 82 FA cases (as controls). The Giemsa and AO stained buccal smears were analyzed, and MN scoring was compared between IDC and FA cases. Results: The mean MN score of FA and IDC was 0.10 ± 0.31 and 1.97 ± 0.73 in AO and 0.10 ± 0.31 and 1.58 ± 0.74 in Giemsa stained smears (P = 0.0001 and 0.0003) respectively. The MN score increased in a stepwise manner from Grade I to II, II to III of IDC in Giemsa-stained smears. The comparison between FA and three different grades of the IDC (P<0.001 each) and mean MN score between Grade II and III IDC (P = 0.007) was statistically significant. While the comparison of mean MN score between Grade I and Grade II IDC was not statistically significant (P = 0.940). The mean MN score with AO stain was higher than the mean MN score with Giemsa, and this difference was statistically significant (P = 0.001). Conclusions: MN scoring in buccal smears in IDC cases was significantly increased than in FA cases. MN assay in buccal smears of a breast lump can be used as a potential biomarker for screening for breast carcinoma as it represents generalized chromosomal damage.
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Presentation and outcome of patients with an adrenal mass: A retrospective observational study p. 198
Nadeema Rafiq, Tauseef Nabi, Sajad Ahmad Dar, Shahnawaz Rasool
Background: Adrenal masses are uncommon, often present with a wide spectrum of manifestations, ranging from silent, benign incidentaloma to functional and rarely highly malignant neoplasm. The study aimed to evaluate the characteristics and outcomes of patients with an adrenal mass. Materials and Methods: This was a single-center, retrospective, observational study on 42 patients diagnosed with an adrenal mass, between August 2010 and August 2019 at our institute. They were studied for clinical, laboratory, radiological, and surgical outcome. All the patients were subjected to computed tomography adrenal protocol and hormonal evaluation (overnight 1 mg dexamethasone suppression test [ONDST] and urinary metanephrine/normetanephrine in all; plasma aldosterone/renin activity ratio [ARR] in patients with hypertension/hypokalemia). Results: The mean age of the study sample was 45.2 ± 12.4 years, with female (69%) predominance. Symptomatic adrenal mass (52.4%) was the most common presentation. Abdominal pain (61.9%) and hypertension (54.8%) were the most common presenting symptoms. Obesity and dyslipidemia were present in half of the patients and hyperglycemia in 23.8%. The majority of tumors were benign (90.5%). Most of the adrenals lesions were nonfunctional (47.6%), followed by pheochromocytoma (26.2%), primary hyperaldosteronism (7.1%), and adrenal Cushing's syndrome (7.1%). Most of the lesions were large, i.e., >4 cm (42.8%). The surgical cure was achieved in 74.1% of patients, with good outcome in nonfunctional adrenal adenoma and myelolipoma. Age ≤40 years was associated with functional adrenal mass. Conclusions: A higher proportion of patients have functional tumors, with pheochromocytomas comprising 26.3%. Majority of patients achieved surgical cure. Age ≤40 years predicted functionality of adrenal mass.
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Giant lymphangioma breast – A rare occurrence: Case report and current review p. 205
Gulshan Kumar Garg, Sunder Goyal, Sham Lal Singla
Cystic lymphangiomas are rare benign tumor and are due to congenital malformations of lymphatic vessels. Majority occur either at birth or up to 2 years age. These are slow-growing lesions and infiltrate into the surrounding tissues. Malignancy is quite rare in these lesions. Common sites are head and neck, axilla, and mediastinum and rarely in breast. Hereby, we report a case of a 13-year-old female who presented with a gradually increasing painless swelling in the upper outer quadrant of her left breast for the last 12 years. Magnetic resonance imaging of the breast showed multiple, irregular, hypoechoic lesions associated with irregular duct dilatation. As the treatment of choice is complete excision, the cystic mass was excised in toto and sent for histopathology, which revealed cystic lymphangioma.
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Bowen's disease of vulva: A rare case of vulvar premalignant disorder p. 210
Jagannath Mishra, Arpita Pandia, Ashok Kumar Padhy, Manoranjan Mahapatra, Janmejay Mohapatra, Bhagyalaxmi Nayak, Jita Parija, Sushil Kumar Giri
Bowen's disease was initially described by JT Bowen in 1912 and is believed to be a squamous cell carcinoma in situ. It can develop on any part of the skin surfaces, particularly sun-exposed areas, but vulvar Bowen disease is quite rare. It is one of the vulvar premalignant lesions which can progress to squamous cell carcinoma if not diagnosed and treated early as most cases of vulvar premalignant lesions are treated by dermatologists with topical steroid therapy as was in our case. The incidence is very rare. This was the first case detected in our institution in the last 20 years. She underwent wide local excision of the lesion and currently disease-free at 12 months of follow-up.
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A case of BCR-ABL-Negative myeloproliferative neoplasm presenting with basophilia p. 212
Kriti Chauhan, Jatin Sarin, Vinay Bhatia
The presence of basophilia on peripheral smear along with neutrophilic leukocytosis is the key differentiating point between chronic myeloid leukemia (CML) and all other myeloproliferative neoplasms (MPNs). However, this is not the case always. After getting negative results for the common transcripts (major, minor, and micro) of the BCR-ABL fusion gene in a case presenting with anemia, mild leukocytosis, basophilia, and eosinophilia; the patient was investigated thoroughly for other MPN-associated mutations. The results obtained were positive for the Jak2 V167 mutation. It is very unusual to find basophilia in BCR-ABL negative MPNs. This implies that any case presenting with basophilia and carrying a suspicion of MPN should be exhaustively tested for all possible mutations (JAK 2 exon 14, exon 12, CALR, MPL, CSF3R, PDGFRa, and FIPIL1) if the results for BCR-ABL are negative. Atypical CML should be the last diagnosis based on the exclusion of other MPNs.
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Primary malignant melanoma of the stomach: A rare neoplasm p. 216
Samreen Zaheer, Divya Khosla, Kannan Periasamy, Sakshi Rana, Renu Madan, Geethanjali Gude, Rakesh K Vasishta, Rakesh Kapoor
The gastrointestinal tract (GIT) is a rare site of primary malignant melanoma. Most of the melanomas diagnosed in the GIT are secondary to cutaneous melanomas. Very few cases of primary melanoma of the stomach have been reported in the literature. We report a rare case of primary malignant melanoma of the stomach in a 60-year-old female patient who presented with nonspecific symptoms. Imaging revealed multiple liver metastases, and on subsequent evaluation, upper gastrointestinal endoscopy (UGIE) showed a lesion in the stomach. Biopsy from the lesion in the stomach was suggestive of melanoma. After excluding other sites of melanoma, a diagnosis of primary malignant melanoma of the stomach with liver metastasis was made. Primary malignant melanoma of the stomach is an exceedingly rare neoplasm. UGIE and biopsy remain the mainstay of diagnosis. Most of the patients present with advanced stage disease, and the prognosis remains dismal. The response to chemotherapy as well as targeted therapy is not well documented in the literature.
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Letter to the editor – COVID-19 swab collection: An opportunity for oral cancer screening p. 220
Navaneeth Yerragudi, Satvinder Singh Bakshi
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