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Introduction: Celiac disease (CD) may be an underlying cause of malnutrition. Aim: The objective of this study was to find out the seroprevalence of CD in children suffering from severe acute malnutrition (SAM) in age group of 1–5 years. Materials and Methods: This was a prospective, observational, hospital-based study carried out at Malnutrition Treatment Centre attached with the ananta institute of medical science & research center Rajsamand, Rajasthan, from February 2019 to January 2020. A total of 220 children with SAM were enrolled and screened for CD on the basis of celiac serology (tissue transglutaminase [tTg]-immunoglobulin A/G [IgA/IgG]). Results: Celiac serology was positivity in 60 (27.28%) cases; out of total 60 seropositive cases, 28 (46.66%) cases were seropositive for both tTg-IgA and IgG, while only tTg-IgA and only tTg-IgG were positive in 18 (30%) and 14 (23.33%) cases, respectively. Mean serotiter of serum tTg-IgA and IgG in seropositive cases was 134.01±198.74 and 49.05±25.74 unit/ml. Conclusions: High seroprevalence of CD in SAM should be taken as alert as CD may be an underlying cause and responsible for malnutrition. These children should be screened by celiac serology (tTg-IgA/IgG) to rule out CD. Key words: Celiac disease, Seroprevalence, Severe acute malnutrition

PURPOSE Hereditary breast and ovarian cancer (HBOC) syndrome is primarily characterized by mutations in the BRCA1/2 genes. There are several barriers to the implementation of genetic testing and counseling in India that may affect clinical decisions. These consensus recommendations were therefore convened as a collaborative effort to improve testing and management of HBOC in India. DESIGN Recommendations were developed by a multidisciplinary group of experts from the Indian Society of Medical and Pediatric Oncology and some invited experts on the basis of graded evidence from the literature and using a formal Delphi process to help reach consensus. PubMed and Google Scholar databases were searched to source relevant articles. RESULTS This consensus statement provides practical insight into identifying patients who should undergo genetic counseling and testing on the basis of assessments of family and ancestry and personal history of HBOC. It discusses the need and significance of genetic counselors and medical professionals who have the necessary expertise in genetic counseling and testing. Recommendations elucidate requirements of pretest counseling, including discussions on genetic variants of uncertain significance and risk reduction options. The group of experts recommended single-site mutation testing in families with a known mutation and next-generation sequencing coupled with multiplex ligation probe amplification for the detection of large genomic rearrangements for unknown mutations. Recommendations for surgical and lifestyle-related risk reduction approaches and management using poly (ADP-ribose) polymerase inhibitors are also detailed. CONCLUSION With rapid strides being made in the field of genetic testing/counseling in India, more oncologists are expected to include genetic testing/counseling as part of their clinical practice. These consensus recommendations are anticipated to help homogenize genetic testing and management of HBOC in India for improved patient care.

Metastatic breast cancer (MBC) is cancer that has spread from the breast to another part of the body or has come back in another distant location. Treatment options for MBC depend on several factors, including where the cancer has spread, the patient's overall health, and the levels of hormone receptors and HER2 in the tumour. Over-expression of HER2 is generally considered to be a negative prognostic feature because it accompanies an increase in breast cancer mortality. However, the development of agents that specifically target HER2 has improved the management of patients with these tumours.[7],[8],[9],[10] This expert group used data from published literature, practical experience and opinion of a large group of academic oncologists to arrive at these practical consensus recommendations in regards with the use of these agents and the management of HER2 positive MBC for the benefit of community oncologists.

Substantial survival benefits exist for patients with early-stage breast cancer who undergo treatment with single-modality ovarian suppression, but its value is uncertain. Expert oncologist discussed to determine whether additional benefits exist with ovarian suppression plus multiple adjuvant therapy which provides a new treatment option that reduces the risk of recurrence in early breast cancer. This expert group used data from published literature, practical experience and opinion of a large group of academic oncologists to arrive at this practical consensus recommendations for the benefit of community oncologists.

OBJECTIVE. The objective of our study was to correlate semiquantitative PET parameters—standardized uptake value (SUV) and total lesion glycolysis (TLG)—derived in simultaneous PET/MRI using MRI-ba...

Human papillomavirus (HPV) associated head and neck squamous cell cancers (HNSCC) have become increasingly common in the West, but the same cannot be said about India. These cancers have a different biology and confer a better prognosis, however, its current role in the management of patients in India is not clearly defined. At the 35th Indian Cooperative Oncology Network conference held in September 2016, a panel of radiation, surgical and medical oncologists, pathologists, and basic scientists from across the country having experience in clinical research with respect to HPV in HNSCC reviewed the available literature from India. All the ideas and facts were thereafter collated in this report. Various topics of controversy in dealing with the diagnosis and management of HPV-associated HNSCC have been highlighted in this report in context to the Indian scenario. Furthermore, the prevalence of the same and its association with tobacco and high-risk sexual behavior has been touched on. Conclusively, a set of recommendations has been proposed by the panel to guide the practicing oncologists of the country while dealing with HPV-associated HNSCC.

Lung cancer, one of the most frequently diagnosed cancers worldwide has long relied on testing for the molecular biomarkers EGFR/ALK. However, achieving superior clinical outcomes for patients with lung cancer requires developing comprehensive techniques beyond contemporary EGFR/ALK testing. Current technologies are on par with molecular testing for EGFR/ALK in terms of efficacy, most of them failing to offer improvements perhaps primarily due to skepticism among clinicians, despite being recommended in the NCCN guidelines. The present study endeavored to minimize chemotherapy-dependence in EGFR/ALK-negative patient cohorts, and use evidence-based methods to identify ways to improve clinical outcomes. In total, 137 lung cancer cases obtained from 'PositiveSelect NGS data', comprising 91 males and 46 females, were investigated. EGFR- and ALK-positivity was used for data dichotomization to understand the therapeutic utility of rare gene alterations beyond just EGFR/ALK. Statistics obtained from PositiveSelect were collated with data from international studies to construct a meta-analysis intended to achieve better clinical outcomes. Upon dichotomization, 23% of cases harbored EGFR variants indicating that treating with EGFR TKIs would be beneficial; the remaining 77% exhibited no EGFR variants that would indicate favorable results using specific currently available chemotherapy practices. Similarly, 28% of cases had EGFR+ALK variants favoring EGFR/ALK-based targeted therapeutics; the remaining 72% harbored no EGFR/ALK variants with known beneficial chemotherapy routes. The present study aimed to overcome current inadequacies of targeted therapies in patients with a conventional EGFR/ALK-positive diagnosis and those in EGFR+ALK-negative cohorts. Upon analysis of the negative cohorts, significant and clinically relevant single nucleotide variants were identified in KRAS, ERBB2, MET and RET, with frequencies of 7, 1, 2 and 3% in patients who were EGFR-negative and 6, 1, 1, and 3% in patients who were EGFR and ALK-negative, respectively, enabling the use of targeted therapeutics aside from EGFR/ALK TKIs. From the results of the current study only 35% of the two negative arms (EGFR negative and EGFR+ALK negative) would be recommended NCCN or off-label chemotherapy; prior to the current study, the entire cohorts would have been recommended this treatment. The present study emphasizes the potential of comprehensive genomics in identifying hallmarks of lung cancer beyond EGFR/ALK, using broad-spectrum genetic testing and data-sharing among medical professionals to circumvent ineffective chemotherapy.

Chronic myelogenous leukemia (LML) was recognized as a distinct entity in the mid-1800s. Since Nowell and Hunagerford initiated their research on CML in1960 our understanding in CML has been increasing. Imatinib became the preferred treatment from 2000 onwards as a result of its unprecedented success. The lack of structured Indian data on CML led to the formation of a CML data cansortuim which invited CML data albiet retro spartive form around the country including major cancer service providers both government and private. We provide a summary of published Indian data on CML here.

Head and neck cancers (HNCs) are malignant tumors of the upper aerodigestive tract and are the sixth most common cancer worldwide. In India, around 30-40% of all cancers are HNCs. Even though there are global guidelines or recommendations for the management of HNCs, these may not be appropriate for Indian scenarios. In an effort to discuss current practices, latest developments and to come to a consensus to recommend management strategies for different anatomical subsites of HNCs for Indian patients, a group of experts (medical, surgical and radiation oncologists and dentists) was formed. A review of literature from medical databases was conducted to provide the best possible evidence base, which was reviewed by experts during a consensus group meeting (January, 2019) to provide recommendations.

Objective In India, cervical cancer accounts for almost 14% of all female cancer cases. Although poverty continues to cast a wide net over the Indian subcontinent, the preceding three decades have borne witness to improvements in nutrition and sanitation for many citizens. However, due to an absence of a national immunization program to cover human papillomavirus (HPV) vaccination and lack of accessible cervical cancer screening, the disease is characterized by late detection, lack of access to affordable and quality health care, and high mortality rates. Treatment of cervical cancer is stage-specific and depends on the patient’s age, desire to preserve fertility, overall health, the clinician’s expertise, and accessibility to resources. There is a paucity of uniform treatment protocols for various stages of cervical cancer in India. Considering all these parameters, a need to optimize treatment paradigms for the Indian population emerged. Methods/materials Three expert panel meetings were held in different regions of India from 2016 to 2017. They were comprised of 15 experts from across the country, and included surgical oncologists, radiation oncologists, and medical oncologists. The panel members reviewed the literature from both national and global sources, discussed their clinical experience and local practices and evaluated current therapeutic options and management gaps for women diagnosed with cervical cancer. Results This article summarizes the expert opinion from these meetings. It discusses the available resources and highlights the current therapeutic options available for different cervical cancer stages: early stage disease, locally advanced tumors, recurrent/persistent/metastatic cancer. An Indian consensus governing treatment options emerged, including guidelines for use of the only approved targeted therapy in this disease, the anti-angiogenesis drug, bevacizumab. Conclusions The panel concluded that given the availability of state-of-the-art imaging modalities, surgical devices, radiotherapeutics, and novel agents in several population-dense urban centers, a uniform, multi-disciplinary treatment approach across patient care centers is ideal but not realistic due to cost and a paucity of third party payors for most Indian citizens. Preventative strategies including visual inspection with acetic acid to screen for precursor lesions (i.e., cervical intraepithelial neoplasia) with immediate referral for cervical cryotherapy and possible large-scale roll-out of the HPV vaccine in the near future can be expected to reduce mortality rates significantly in this country.

Human epidermal growth factor receptor 2 (HER2)-positive breast cancer is a more aggressive subtype of breast cancer and targeting the HER2 receptor has proven effective in improving the prognosis of these patients. Pertuzumab, a recombinant humanized monoclonal antibody and the first in a class of HER2 dimerization inhibitors approved for treating HER2+ breast cancer. It blocks ligand-dependent heterodimerization and ligand-independent homodimerization of HER2 with other HER members. When used in combination with trastuzumab and taxane, pertuzumab complements the action of trastuzumab and results in a comprehensive blockade of HER2 signaling pathway. This review article traces the development of pertuzumab from concept to its current use in HER2+ breast cancer treatment. A search of Medical Literature Published since 2007 was performed in PubMed using the keywords “pertuzumab,” “HER2+ breast cancer,” “HER2 targeted therapy,” “metastatic breast cancer,” and in search engines for ongoing trials with pertuzumab and incidence of cancer and breast cancer in India. A total of 35 publications and abstracts from the American Society of Clinical Oncology were selected for this review. Pertuzumab is approved in combination with trastuzumab and docetaxel for the treatment of patients with HER2+ metastatic BC, who have not received prior anti-HER2 therapy or chemotherapy for metastatic disease. The dual HER2 blockade of pertuzumab and trastuzumab is now accepted worldwide as a standard of care by various guidelines.

Breast and/or ovarian cancers are among the most common cancers in women across the world. In the Indian population, the healthcare burden of breast and/or ovarian cancers has been steadily rising, thus stressing the need for early detection, surveillance, and disease management measures. However, the burden attributable to inherited mutations is not well characterized. We sequenced 1010 unrelated patients and families from across India with an indication of breast and/or ovarian cancers, using the TruSight Cancer panel which includes 14 genes, strongly associated with risk of hereditary breast and/or ovarian cancers. Genetic variations were identified using the StrandNGS software and interpreted using the StrandOmics platform. We were able to detect mutations in 304 (30.1%) cases, of which, 56 mutations were novel. A majority (84.9%) of the mutations were detected in the BRCA1/2 genes as compared to non-BRCA genes (15.1%). When the cases were stratified on the basis of age at diagnosis and family history of cancer, the high rate of 75% of detection of hereditary variants was observed in patients whose age at diagnosis was below 40 years and had first-degree family member(s) affected by breast and/or ovarian cancers. Our findings indicate that in the Indian population, there is a high prevalence of mutations in the high-risk breast cancer genes: BRCA1, BRCA2, TP53, and PALB2. In India, socioeconomic inequality limiting access to treatment is a major factor towards increased cancer burden; therefore, incorporation of a cost-effective and comprehensive multi-gene test will be helpful in ensuring widespread implementation of genetic screening in the clinical practice for hereditary breast and/or ovarian cancers.

Purpose To study relationships among pharmacokinetic and 18 F-fluorodeoxyglucose ( 18 F-FDG) PET parameters obtained through simultaneous PET/MRI in breast cancer patients and evaluate their combined potential for response evaluation. Methods The study included 41 breast cancer patients for correlation study and 9 patients (pre and post therapy) for response evaluation. All patients underwent simultaneous PET/MRI with dedicated breast imaging. Pharmacokinetic parameters and PET parameters for tumor were derived using an in- house developed and vendor provided softwares respectively. Relationships between SUV and pharmacokinetic parameters and clinical as well as histopathologic parameters were evaluated using Spearman correlation analysis. Response to chemotherapy was derived as percentage reduction in size and in parameters post therapy. Results Significant correlations were observed between SUVmean, max, peak, TLG with K trans (ρ = 0.446, 0.417, 0.491, 0.430; p ≤ 0.01); with Kep(ρ = 0.303, ρ = 0.315, ρ = 0.319; p ≤ 0.05); and with iAUC(ρ = 0.401, ρ = 0.410, ρ = 0.379; p ≤ 0.05, p ≤ 0.01). The ratio of ve/iAUC showed significant negative correlation to SUVmean, max, peak and TLG (ρ = 0.420, 0.446, 0.443, 0.426; p ≤ 0.01). Ability of SUV as well as pharmacokinetic parameters to predict response to therapy matched the RECIST criteria in 9 out of 11 lesions in 9 patients. Maximum post therapy quantitative reduction was observed in SUVpeak, TLG and K trans . Conclusion Simultaneous PET/MRI enables illustration of close interactions between glucose metabolism and pharmacokinetic parameters in breast cancer patients and potential of their simultaneity in response assessment to therapy.

Context: Treatment of patients with cleft lip and palate (CLP) anomaly requires a multidisciplinary approach from birth until adulthood. Many children with cleft anomaly are born in rural areas where resources for treatment and awareness on cleft care are limited. Consequently, many patients may receive limited or suboptimal care due to multitudes of reasons. Aims: The current study was aimed to record the baseline data on the spectrum of clinical profile of cleft patients, treatment protocols, quality of treatment and the residual treatment needs of patients with CLP anomaly visiting three major hospitals across Delhi and National Capital Region (NCR). The experience gained from the three-center study would be used to lay a framework to conduct a nationwide multicenter study in terms of logistics, feasibility and difficulties. Materials and Methods: The study titled "CLP anomaly in India: Clinical profile Risk factors and current status of treatment: A hospital based study" was started in 2010 as a Task Force project of Indian Council of Medical Research. The Pilot phase, which started in 2012, encompassed three cleft centers across Delhi and NCR, namely, All India Institute of Medical Sciences, Safdarjang Hospital and Medanta - The Medicity. Data for 126 non-syndromic CLP subjects was recorded on a specially designed performa. Each case was evaluated by a team of specialists comprising of a Plastic Surgeon, an Orthodontist, ENT Surgeon, Dental Surgeon, Speech therapist and an Audiologist. Clinical records included profile and intraoral photos, dental study models, audiometric and speech evaluation data. The current paper attempts to highlights a few of relevant observations of the pooled data from three centers. Results and Conclusions: The results indicate a lack of uniform protocol followed in providing care to cleft patients. A great variation was found in the quality of treatment received by many of the patients.

This paper proposes and describes a system, to classify skin lesion as malignant or benign. There are over 200 different known cancer in which malignant melanoma, is the most dangerous form of skin cancer, and have a good prognosis if treated in the curable early stages. The purpose of the research is to develop, implement and test an application, on clinical images taken using high speed cameras, to detect melanoma in early stage. The proposed system is based on TDS (Total Dermoscopic Score) calculation with preprocessing and OTSU's segmentation method for classification of skin lesion as non-cancerous (Benign), suspicious or cancerous (melanoma). The system has been tested on a dataset of 30 lesions (16 images of malignant lesions and 14 benign lesions). The result of experiment shows that preprocessing steps and OTSU's segmentation with ABCD algorithm provide more accurate result.

Context: This named patient program evaluated the safety and efficacy of ibrutinib, a selective inhibitor of Bruton's tyrosine kinase in Indian patients with relapsed/refractory chronic lymphocytic leukemia (CLL, with/without chromosome 17 deletion [del17p]) and mantle cell lymphoma (MCL). Subjects and Methods: The eight enrolled patients (relapsed/refractory CLL: n = 6 [4/6 patients with del17p] and relapsed/refractory MCL: n = 2) had median age of 55 years (range, 52–60) and had received a median of 3 (CLL patients) and 4 (MCL patients) prior therapies. Patients received once-daily dose of ibrutinib (420 mg: CLL, 560 mg: MCL). Results: In CLL patients, the median time to response was 3 months (range, 0.5–7) and five of six patients had partial response (PR) whereas one achieved complete response (CR). Median time on treatment was 11.5 months (range, 8–14); five patients continued treatment and one was recommended stem cell transplantation (SCT). Of the two MCL patients, one achieved PR and one showed CR and advanced to SCT. In CLL patients, the median (range) hemoglobin level improved from 9.8 g/dL (7.2–11) at baseline to 12.0 g/dL (9.5–13.2) and median (range) platelet count improved from 150,000 cells/μL (21,000–195,000) at baseline to 190,350 cells/μL (130,000–394,000) at the time of analysis (July 2016). Most adverse events (AEs) reported were infections (n = 2). No Grade 3-4 or serious AEs, dose reductions, or treatment discontinuation due to AEs were reported. Conclusions: In this first real-world experience in Indian patients, ibrutinib demonstrated therapeutic efficacy in relapsed/refractory CLL (with/without del17p) and MCL. Safety results were consistent with the current known profile of ibrutinib.

Leukemia cutis is the infiltration of neoplastic leukocytes or their precursors into the epidermis, the dermis, or the subcutis, resulting in clinically identifiable cutaneous lesions. We describe a case of CML who presented with extensive cutaneous manifestations at the time of second blast crisis with multiple subcutaneous skin nodules over the face and trunk with extensive violaceous papules and plaques over all four limbs and the trunk, with scalp showing extensive crusting and scaling with foul smelling discharge.

Pressure sore is tissue ulceration due to unrelieved pressure, altered sensory perception, and exposure to moisture. Geriatric patients with organic problems and patients with spinal cord injuries are the high-risk groups. Soft tissues over bony prominences are the common sites for ulcer development. About 95% of pressure ulcers occur in the lower part of the body. Ischial tuberosity, greater trochanter, sacrum and heel are common sites. In addition to these, pressure sores at unusual sites like nasal alae, malar eminences, cervical region and medial side of knee have also been described. Only 1.6% of the patients present with sores in areas outside the pelvis and lower extremity. In a paraplegic patient, pressure sores are usually over extensor surface of knee and heel but pressure ulcer over popliteal fossa are extremely rare. We herein report a case of a 36-years-old diabetic and paraplegic male, who presented with multiple bed sores involving the sacral area, heels and bilateral popliteal fossa. Popliteal fossa is an unusual site for pressure sores. Only one similar case has been previously reported in the literature.

e18549 Background: The largest series on peripheral T-cell lymphoma (PTCL) [International T-cell Lymphoma project] reports the incidence of PTCL (4-21%) from various regions of the world. However, ...

Introduction Therapy related second malignancy of the hematological system is small but real risk after adjuvant chemotherapy for breast cancer. It includes acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS); however T-cell prolymphocytic leukemia (T-PLL) has not been described earlier in relation to breast cancer and its therapy. T-PLL is a rare chronic T-cell lymphoproliferative disease with a mature post-thymic T-cell immunophenotype and aggressive clinical course. Case presentation A 45 year old Indian female of Nordic origin presented 5 years back with a lump in the right breast and the axilla. She underwent modified radical mastectomy. Histophotomicrograph of the excised breast lesion showed a 2.1 cm duct carcinoma, positive for ER and PR with 1 out of 25 lymph nodes positive for metastasis. She received 6 cycles of chemotherapy with cyclophosphamide, epirubicin, and 5-fluorouracil. This was followed by tamoxifen 20 mg per day for five years. She was doing well on follow up until the completion of fifth year of her disease, when she presented with complaints of mild fever and weakness. Examination revealed generalized lymph node enlargement along with hepatomegaly. Hemogram showed mild anemia, normal platelet count and a leukocyte count of 1.2 × 1011/L. Peripheral blood examination revealed medium sized lymphoid cells, constituting almost 75% of total nucleated cell population. Immunophenotying, established a diagnosis of post thymic T-cell prolymphocytic leukemia. Contrast-enhanced computed tomography of the chest and abdomen was done which revealed an anterior mediastinal mass with destruction of sternum along with multiple small nodular shadows in bilateral lung fields suggestive of lung metastasis. Fine needle aspiration cytology of the mass showed atypical ductal cells with nuclear pleomorphism, which were positive for ER, PR and Her2neu protein. This confirmed a co-existent metastatic breast carcinoma. She was started on chemotherapy for T-PLL along with hormonal therapy with aromatase inhibitor. Unfortunately, both her malignancies progressed after an initial stable disease of two months. Conclusion Our case describes the potential of breast chemotherapy to cause grave second hematological malignancies of the T-cell lymphoid lineage, not described earlier. Such events highlight the importance to identify those patients of breast cancer in whom chemotherapy can safely be avoided.