10614 Background: Advances in our understanding of the molecular basis of cancer have pushed us in a new era of personalized medicine in oncology. The adoption of personalized medicine in Breast cancer (BC) and Ovarian cancer (OC) care holds significant promise. Homologous recombination repair (HRR) process aids in the restoration of halted replication forks during DNA replication. Where, an effective HRR depends on the normal functioning of oncoproteins, BRCA1 and BRCA2 playing crucial roles. Methods: Germline Next Generation Sequencing based BRCA1 & BRCA2 gene panel on ion torrent technology was employed in 1780 diagnosed BC and OC patients for genetic-molecular evaluation. Bioinformatics pipelining and data analysis was performed as per Ion Reporter pre-designed stringent workflows for germline variant screening. Variants were called as per ACMG guidelines and framework. Results: A total of 993 (55.8%) BC, 673 (37.8%) OC and 114 (6.4%) patients with co-existing BC & OC participated in the study. Out of which, 232 (13%) patients were found to harbour a clinically significant BRCA1 or BRCA2 gene variant. Predominantly, BRCA1 was the most mutated gene (68%; n = 158), followed by BRCA2 (32%; n = 74) across cohort. 48.2% of BRCA variants were noted in BC while 41.7% in OC and 10.1% in co-existing BC & OC patients respectively. Majority of the pathogenic variants (55.4%) were detected in high-grade tumors with mean age of 45.2 years. Exon-10 (33.3%) of BRCA1 and exon-11 (47.2%) of BRCA2 genes were the most mutated regions detected. Additionally, findings revealed 21 (9.1%) novel (14 in BRCA1 and 07 in BRCA2 genes) variants across BRCA genes not reported previously in ClinVar (NCBI) or BIC (Breast Information Core) databases. BRCA1 gene, exon-02, c.68_69del (185delAG) was the most pre-dominant (10.3%) variant in the patient cohort. Conclusions: India has emerged as the global cancer capital with BC being the most incidental cancer in women. Investigating the BRCA1, BRCA2 gene status in the current patient cohort has enabled the identification of not only the recurring hotspot pathogenic variants but also novel variants, as per the NCCN guidelines with actionable targets. Among BC, elevated and alarming frequency of TNBC patients (37.5%) was noted. The study findings provide a wide spectrum of BRCA gene variants specific to East-Indian patients with novel gene mutations pertaining to Indian population. These findings support the development of targeted therapeutic strategies by enabling the alignment of individual patients with treatments most likely to confer clinical benefit. Such precision oncology approaches may improve therapeutic efficacy, minimize treatment related toxicity, and ultimately enhance quality of life among cancer patients. Keywords: Breast & Ovarian cancer; BRCA1; BRCA2; NGS; Precision therapeutics.
Introduction Pediatric malignancy represents 5% of total cancer diagnosed in India. Due to delayed diagnosis and inaccessibility to healthcare system, the overall outcome is poor in our country. The clinicodemographic profile of childhood malignancy is well described in theWestern world and in certain parts of India. The incidence of pediatric malignancy in Eastern India, especially Odisha, has not yet been reported that has motivated us to conduct such a study. Objective This study aims to evaluate the clinicodemographic profile and pattern of childhood malignancy among pediatric patients who received the treatment at a tertiary cancer institute of Odisha. Materials and Methods It was a retrospective observational study, carried out for a period of 8 years, from January 1, 2013 to December 31, 2020 at a tertiary cancer center in Eastern India. A total of 759 eligible childhood malignancy patients were recruited in the study. IBM SPSS v23 was used for descriptive statistical analysis, that is, number and percentage of various clinicodemographic parameters of the above patients. Result Childhood malignancy accounted for 1.6% of all cancers reported during the above study period. The male to female ratio was 1.8:1. Out of 759 eligible childhood cancer patients, majority of patients were suffering from leukemia (173; 22.8%) followed by malignant bone tumors ( 137; 18.0%), and lymphoma (122; 16%). Leukemia was predominant in the age group of 0 to 14 years; lymphoma, central nervous system neoplasms, germ cell tumors malignant bone tumors, and soft tissue sarcoma (STS) were common in the age group of 10 to 18 years; neuroblastoma, retinoblastoma, and renal and hepatic tumors were seen commonly in the age group of 0 to 9 years. The most common presentation in leukemia was fever, while lymphadenopathy was the chief complaint in lymphoma. Local swelling and pain were the presenting symptoms in malignant bone tumors, while STS patients had painless swelling. Conclusion This study provides an overview of the burden and pattern of childhood malignancy for the state of Odisha and acts as a roadmap for the clinicians to conduct further research in the field of pediatric oncology.
ABSTRACT Objective: This study to evaluate clinicopathological parameters such as age, tumor location, tumor size, grade, depth of invasion (DOI), lymphovascular space invasion (LVSI), lymph node metastasis, and stage that predict peri-neural invasion (PNI) in oral squamous cell carcinoma (OSCC). Material and Methods: A retrospective study on 1716 postoperative OSCC patients who satisfied the eligibility criteria and treated from January 2009 to December 2019 was analyzed using IBM SPSS V23. Mean and percentage were assessed using descriptive statistics. Wilcoxon–Mann–Whitney U-test was used to compare continuous variables, while Chi-square test was used to compare discrete variables between PNI-positive and PNI-negative groups. Two-tailed P < 0.05 was considered to be statistically significant. Results: Out of 1716 patients, 553 were PNI positive. The mean age was 48.76 ± 12.42 years in PNI-positive patients while 51.52 ± 12.51 years in PNI-negative patients. Males outnumbered females. The most common primary was carcinoma buccal mucosa (204, 36.9%), followed by carcinoma of oral tongue (161,29.1%). Maximum tumor size was 3.14 ± 1.20 cm in PNI-positive patients whereas 2.78 ± 1.22 cm in PNI-negative patients. Sixty (10.84%) patients in PNI-positive group and 51 (4.38%) in PNI-negative group had LVSI positive. Lymph node involvement was observed in 305 (55.13%) patients in PNI-positive group whereas 358 (30.78%) patients in PNI-negative group. Maximum number 228 (41.3%) in PNI-positive patients were in Stage IVA disease. Conclusion: PNI is one of the important adverse prognostic factors having a definite correlation with anatomical subsite, tumor size, grade, DOI, LVSI, lymph node involvement, and stage of the disease. PNI should be analyzed in postoperative histopathology report of OSCC that guides the clinician for adjuvant therapy.
Introduction: Head and Neck cancer is most common cancer in developing countries like India. Oral Squamous Cell Carcinoma (OSCC) is the most common site of head and neck malignancy. Various histopathological factors prognosticates the therapeutic outcome. Clinicopathological characteristics of OSCC in Asian countries somehow differ from Western countries. Aim: To report the different clinicopathological characteristics of OSCC due to paucity of the literature even though it is one of the most common malignancy in India. Materials and Methods: In this retrospective observational study, the medical records of 1753 patients of OSCC who satisfied the eligibility criteria and were treated at a tertiary cancer centre at Cuttack, Odisha, India, from January 2009 to December 2019. Clinicopathological profile of the included subjects were noted. The data was analysed in the month of March 2021 using descriptive statistics such as mean, median, maximum, minimum value and percentage using International Business Machine (IBM) Statistical Package for the Social Sciences (SPSS) version 23.0. Results: Total of 1753 patients were analysed with the mean age of 50.55±12.56 years, however, majority 492 (28.1%) were in the age of 40-49 years. Male predominance was observed in 1379 (78.7%) patients. Buccal mucosa was the most common primary site in 731 (41.7%) patients, (41.7%) followed by the tongue in 359 (20.5%) patients. Left side lesion was seen in 1008 (57.5%) patients while 734 (41.9%) patients had lesion at right side. Morphologically, ulceroinfiltrative lesion was the most common presentation constituting in 897 (51.2%) patients. Maximum tumour size was 2.91±1.25 cm. Maximum number of patients i.e., 1529 (87.2%) had grade I disease. Mean Depth of Invasion (DOI) was 8.67±4.50 mm. Lymphovascular Space Invasion (LVI) was positive in 123 (7%) patients and Perineural Invasion (PNI) was observed in 565 (32.2%) patients. Resected margin was positive in 203 (11.6%) patients. Cervical lymph node involvement was found in 691 (39.4%) patients and 28 (1.6%) had extracapsular extension. In the present study, most of the patients presented in advanced stage of the disease i.e., stage III 380 (21.7%) and stage IV 506 (28.9%). Conclusion: The present study highlights that majority of OSCC presents in younger age groups, as left side buccal mucosal lesion with advanced stages of disease. This scenario is due to poor lifestyle pattern which can be prevented by avoidance of tobacco consumption, active screening, public awareness and early diagnosis.
Background: Carcinoma of the breast is the commonest malignancy in indian women. It is a serious health issue, producing increased mortality among indian women. Breast carcinoma is a heterogeneous disease with wide difference in clinico pathological presentation in different parts of the world. This study had been undertaken to evaluate the clinico pathological presentation of carcinoma breast in Odisha which is one of the important mining belts of eastern India.Methods: It was a retrospective analysis of 1000 eligible histopathology proved non metastatic, post-operative carcinoma breast, treated at Acharya Harihar post graduate institute of cancer, a tertiary cancer hospital of Odisha. The data were retrieved with respect to clinical presentation, pathological finding, stage of the disease and receptor status of the cancer breast patients from the hospital records.Results: Among 1000 patients the mean age of presentation was 47.25 years, among them 99.2% of the patient were female. Upper outer quadrant lesion was 66.6%. 96.5% of patient presented with invasive duct carcinoma (IDC). Multicentricity was 1.9%. 36.5% presented with lympho vascular space invasion and 23% with perineural invasion. Mean tumor size was 4.24±2.07. 59.6% patient had lymph node involvement. Mean number of lymph node positive was 3.67. Extracapsular invasion was 19.9%. Majority of the patient presented with advanced stage of the disease. ER+, PR+, HER-2 neu negative breast cancer was only 21.5%, triple negative 47.9%, ER-, PR- HER-2 neu ± 15.2%, triple positive 9.1%.Conclusions: The patient of carcinoma breast in this part of world presented at younger age with advanced stage of the disease having triple negativity and HER-2 neu positive in a greater number of patients which are biologically aggressive, needs early detection and aggressive treatment.
Background: Odisha, a populous state and a major mining belt in India has high levels of environmental carcinogens.There is no population-based cancer registry in Odisha, thus giving no opportunity to develop systematic studies on important regional carcinogens.This paper highlights current patterns of cancer as seen at Acharya Harihar Regional Cancer Centre (AHRCC), and provides the first opportunity to determine the most important research questions that could drive cancer control programs in Odisha. Methods:The analysis included all patients diagnosed and admitted with cancer at AHRCC, Cuttack, Odisha between January, 1 st and December, 31 st , 2012.Patient data were extracted from inpatient records, investigation reports and from in-patient registers and admission registers maintained by the Medical Records Department.Relevant information on diagnosis, primary site and demographic data were retrieved.Results: There were a total of 4811 patients, with a mean age of 47.5 ± 15.5 years, 44% males.The most common cancers among males were oral (14%), gastric (13%) and lung (10%) cancers.For females, among the most common cancers were breast (26%), cervix (21%), ovary (11%) gastric (5%) and gall bladder (3.7%).Seven percent of our cancer patients were aged ≤ 20 years.Acute lymphoblastic leukemia, Non-Hodgkin's lymphoma, Hodgkin's lymphoma and brain tumors were most common in this age group. Conclusion:Findings from this study suggest that particular attention be given to high prevalence cancers as import ant areas of research for risk factors and cancer control in Odisha.
INTRODUCTION Head and Neck Cancers constitute around 30% of cancers occurring in India and majority of cases present with locoregionally advanced disease. Cisplatin based concurrent chemoradiation is the most common modality of definitive treatment in these advanced cases. However, it is unclear regarding priority of weekly versus three weekly cisplatin based concurrent chemoradiation schedule in treatment of such advanced diseases. AIM To evaluate the efficacy in terms of response, locoregional control, and disease status in both the arms, and to compare the acute and late toxicity in both arms. MATERIALS AND METHODS Thirty untreated patients of locally advanced Squamous Cell Carcinoma of head and neck were randomized into two arms: Arm A (n=15) patients received injection cisplatin 30 mg/m2 weekly along with radiation; Arm B (n=15) patients received injection cisplatin 100 mg/m2 on a three weekly basis along with radiation. Radiotherapy was delivered to a total dose of 66 Gy in conventional fractionation schedule in telecobalt machine. RESULTS Major toxicities included mucositis, dermatitis, vomiting, neutropenia, and anaemia. There was a trend towards increase in grade-III leukopenia and grade-III dermatitis in arm A compared to arm B, and increase in grade-III mucositis and grade-III vomiting in arm B in comparison to arm A although statistically not significant. Within a median follow-up of seven months, in arm A complete response was 73.33% (11/15) and partial response was 26.67%; whereas in arm B complete response was 85.71% (12/14) and partial response was 14.29%, which was not statistically significant. However, there was a trend towards better efficacy in arm B. CONCLUSION We conclude that, weekly cisplatin arm is as good as three weekly cisplatin arms. But efficacy is not statistically significant. However, there was a trend of three weekly cisplatin arms towards better efficacy, with comparable haematological and mucosal toxicities.
Cancer registration, an important component of cancer surveillance, is essential to a uni ed, scienti c and public health approach to cancer prevention and control. India has one of the highest cancer incidence and mortality rates in the world. A good surveillance system in the form of cancer registries is important for planning and evaluating cancer-control activities. Cancer registration in India was initiated in 1964 and expanded since 1982, through initiation of the National Cancer Registry Program (NCRP) by the Indian Council of Medical Research. NCRP currently has twenty-six population based registries and seven hospital based registries. Yet, Indian cancer registries, mostly in urban areas, cover less than 15% of the population. Other potential concerns about some Indian registries include accuracy and detail of information on cancer diagnosis, and timeliness in updating the registry databases. It is also important that necessary data collection related quality assurance measures be undertaken rigorously by the registries to ensure reliable and valid information availability. This paper reviews the current status of cancer registration in India and discusses some of the important pitfalls and issues related to cancer registration. Cancer registration in India should be complemented with a nationwide effort to foster systematic investigations of cancer patterns and trends by states, regions and sub populations and allow a continuous cycle of measurement, communication and action.
Department of Medical Oncology, Acharya Harihar Regional Cancer Centre, Mangalabag, Cuttack, Odisha, India. Department of Radiation Oncology, Acharya Harihar Regional Cancer Centre, Cuttack, Odisha, 753007, India. Department of Radiation Oncology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, 751019, India. Department of Obstetrics and Gynaecology, S.C.B. Medical College, Cuttack, India. Department of Biological Sciences, Indian Institute of Science Education and Research, Bhopal, 462066, India. Patholab, Cuttack, Odisha, 753007, India.
e17542 Background: Many histopathologic parameters in head and neck squamous cell carcinoma have been identified as predictive factors for lymph node metastasis. Few studies have highlighted the depth of invasion with pathological lymph node metastasis. No definite treatment protocol has been defined with respect to depth of invasion This study is taken up to correlate between depth of invasion and lymph node metastasis in post operative cases of carcinoma buccal mucosa and tongue. Methods: Retrospectively the histopathology report of cases of operated carcinoma buccal mucosa and tongue respectively from August 2014 to December 2015 were reviewed. Total 82 cases were retrieved. All the patients had adequate neck dissection. The depth of invasion and lymph node involvement were analysed using SPSS v. 21. Results: Among 82 patients, there were 59 cases of Carcinoma Buccal Mucosa and 23 cases of Carcinoma Tongue. The overall cervical metastatic rate was 55.93% (n = 33/59) in Carcinoma Buccal Mucosa and 69.56% (n = 16/23) in Carcinoma Tongue. Upto 8 mm depth of invasion in case of Carcinoma Buccal Mucosa there is 37.5%(n = 6/16) involvement of cervical lymph nodes, whereas from depth of invasion more than 8 mm nodal metastasis is 62.79%(n = 27/43) of cases. While in Carcinoma Tongue upto 6 mm depth of invasion lymph node metastasis is seen in 50% (n = 2/4) cases and above 6 mm depth of invasion it is seen in73.68%(n = 14/19) cases. Conclusions: With increasing depth of invasion,the frequency and number of lymph node involvement increases in both Carcinoma Buccal Mucosa and Carcinoma Tongue. At 8 mm and 6 mm depth of invasion lymph node involvement increases significantly in Carcinoma Buccal Mucosa and Tongue respectively. Elective neck therapy should be considered at 8 mm and 6 mm of depth of invasion in Carcinoma Buccal Mucosa and Carcinoma Tongue.
Bone metastasis is a rare entity in germ cell tumor of testis and is a poor prognostic site. It is usually associated with synchronous metastasis at other sites. Till now very few cases of isolated bone metastasis of germ cell tumor of testis have been reported but none have reported scapular metastasis. We are reporting a case of nonseminomatous germ cell tumor of right testis that was operated eight months ago and now presented with isolated scapular metastasis. Histopathology of the scapular tissue revealed rhabdomyosarcoma or poorly differentiated synovial sarcoma. Immunohistochemistry with serum markers concluded it to be metastatic germ cell tumor. To the best of our knowledge this is the first reported case of scapular metastasis of testicular germ cell tumor. This case is being reported here due to dilemmatic way of presentation and also to emphasize that histopathology may sometimes misguide and immunohistochemistry is necessary in such cases.
Primary adenocarcinoma of cervix constitute about 7-15% of all cervical cancer. Clear cell carcinoma, a form of cervical adenocarcinoma is a very rare tumor constituting only 4% of cervical carcinoma. Risk factor and pathogenesis of this disease are not exactly revealed. Intrauterine exposure to diethylstilbestrol and associated non-steroidal estrogen during pregnancy before 18 weeks is the only risk factor. Here we report an unusual case of clear cell carcinoma of cervix presented with bilateral pleural effusion, cytology of which shows adenocarcinoma. This is a rare case since patient had no history of diethylstilbestrol exposure and presented with bilateral pleural effusion. This is the first described case report of clear cell carcinoma of cervix with upfront malignant pleural effusion.
Carcinoma of male breast constitutes 1% of total breast malignancy. Carcinoma arising from ectopic breast tissue in male is an extremely rare entity and can be misdiagnosed. Ectopic breast tissue may be supernumerary or aberrant one. Despite morphologic difference, ectopic breast tissue presents characteristics analogous to orthoptic breast in terms of functional and pathologic degeneration. Most of the ectopic breast tissue occurs in thoracic or abdominal portion of milk line. If found in a location outside the milk line, it proves a diagnostic dilemma. We are reporting a case of 60-year-old male who presented with a fixed mass of size 10cm×8cm, in right chest wall infraclavicular area of 6 months duration. Histopathology of the mass revealed invasive duct carcinoma. He had no evidence of malignant or occult primary lesion in the bilateral mammary glands. Due to the paucity of the literature, incidence of ectopic male breast cancer and its management is not well understood. There is high probability of misdiagnosis of this disease. To the best of our knowledge this is the first described case of ectopic male breast cancer in the chest wall, not along the milk line, which is being reported here for documentation.
Major advances in the treatment of testicular cancer have resulted in increased cure rates. However, accompanying this success has been the concern about long-term side effects of treatment such as renal and pulmonary damage, ototoxicity, and the occurrence of second primary malignancies. Leukemia following chemotherapy and development of solid tumors following radiotherapy has been documented. However, the development of a second primary malignancy in the kidney has rarely been reported and is even more unlikely in the absence of previous adjuvant radiotherapy. We report a case of second primary renal cell carcinoma, in a treated case of seminoma testis.
Granulocytic sarcoma is a rare hematological neoplasm which is often misdiagnosed. We report two patients of primary granulocytic sarcoma, one at meninges who was diagnosed radiologically as meningioma and on histopathology as langerhans cell histiocytosis. The second patient presented with an ulcerated chest wall swelling, who on histopathology revealed malignant round cell tumour. Both the patients subsequently proved as primary granulocytic sarcoma on immunohistochemistry. These two cases are reported here due to their rarity.
Palatal perforation can occur due to trauma, infection and malignancy. Mucormycosis is a rare opportunistic fungal infection caused by an organism of class zygomycetes. Rhinocerebral mucormycosis is the most common type of mucormycosis that typically starts in maxillary antrum in immunocompromised patients. Invasion of surrounding structures leads to necrotizing ulcer of the hard palate and ultimately leads to perforation. Here, we report a case of perforation of the hard palate due to mucormycosis in a eight years child having acute lymphoblastic leukemia (ALL), who was on prolonged chemotherapy and corticosteroid therapy. This case is being reported for its rarity. The aim of presenting this case report is to emphasize that the infection due to mucomycosis should be included in the differential diagnosis of hard palate perforation in ALL patients who are immunocompromised.
Second malignancy is one of the late complications of long-term cancer survivors, treated with radiation or chemotherapy. Here is a case report on acute myelogenous leukemia, which developed after 63 months following the completion of treatment with surgery and platinum-based chemoradiation in a patient of carcinoma cervix IB. The above-mentioned second malignancy is one of the late sequelae of platinum-based chemoradiation. This case is reported here for documentation because of its rarity.
Hematol Oncol Stem Cell Ther 2(2) Second Quarter 2009 hemoncstem.edmgr.com 364 Myoepithelial cells are usually present between the epithelial cells and the basal lamina of the secretory elements of the mammary duct system of the breast.1 Tumors derived from these cells are found in the skin, lungs, salivary glands and breast. Neoplasms of the myoepithelium are called myoepitheliomas, which may be benign or malignant. Tumors that arise from both epithelium and myoepithelial cells are called adenomyoepithelioma (AME). Adenomyoepithelioma of the breast is a rare entity. Although it is a benign tumor, locoregional recurrences and distant metastasis have also been reported.1,2 Total surgical excision of the tumor with adequate margin and long-term follow-up is the treatment recommended for AME.3,4 We report a case report on AME of the right breast that merits documentation due to its rarity.
Hematol Oncol Stem Cell Ther 1(4) October 2008 hemoncstem.edmgr.com 249 Choroid metastasis from an extraocular primary malignancy is a rare event. Most of these mel tastases are carcinomas arising from the breast and lung.1,2 A mixed germ cell tumor of the testis coml monly metastasizes to lung, but choroid and cutaneous metastasis is rare. We encountered a mixed germ cell tumor of the left testis with a choriocarcinomatous element, presenting with multiple pulmonary, bilateral choroid and isolated skin metastases. This case merits documentation due to its rarity and to further support the evidence of choroid and cutaneous metastasis in mixed germ cell tumor of the testis having a choriocarcinomatous element.