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1.
Cancer Invest ; 41(9): 789-802, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37909664

RESUMO

We assessed the efficacy, tolerability, and cost-effectiveness of a novel neoadjuvant regimen comprising docetaxel-cyclophosphamide alternating with epirubicin-cisplatin (ddDCEP) administered biweekly for 16 weeks in 116 patients with early triple-negative breast cancer. This regimen achieved a high pathological complete response (ypT0/TisN0) rate of 55.2% and favorable survival outcomes (30-month event-free survival, 91.2%; overall survival, 97%). Febrile neutropenia was observed in 4.3% of patients, and 98% completed at least six of eight cycles. ddDCEP was more cost-effective than contemporary carboplatin-based regimens. This novel approach offers an economically viable and effective alternative to current chemoimmunotherapy regimens, and merits further investigation.


Assuntos
Neoplasias da Mama , Neoplasias de Mama Triplo Negativas , Humanos , Feminino , Docetaxel/uso terapêutico , Epirubicina/uso terapêutico , Cisplatino/efeitos adversos , Platina/uso terapêutico , Neoplasias de Mama Triplo Negativas/patologia , Taxoides/efeitos adversos , Resultado do Tratamento , Ciclofosfamida/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Terapia Neoadjuvante
2.
Langenbecks Arch Surg ; 407(3): 1193-1199, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34988642

RESUMO

PURPOSE: Benign thyroid diseases encompass a large spectrum of conditions that are chronic and subtle in nature. A majority of patients choose non-surgical management and continue living their daily lives with subconscious impairment of optimal functioning. We studied the effect of thyroidectomy on the quality of life (QoL) in patients with benign goitres. METHODS: A prospective study was conducted on 50 patients between January 2017 and August 2018 using the ThyPRO 39 questionnaire. This is a disease-specific health-related questionnaire administered the day before surgery and 6 months following surgery. Data analysis was performed using EpiData Manager and EpiData Entry Client (v 3.1). RESULTS: The mean age of the cohort was 43.30 years ± 11.61, with a female preponderance (34:16). The most common indications for surgery were suspicion of malignancy and compressive symptoms in 34% and 30%, respectively. The most common histopathology reported was nodular/adenomatous hyperplasia (56%). Prior to surgery, the most common domains affected were emotional susceptibility and tiredness. Following surgery, a significant improvement in all domains of the ThyPRO 39 questionnaire were seen except for psychological well-being (p=0.126). In addition, the composite scores significantly improved (p<0.001). Younger age, female gender, and longer duration of goitre were the factors that significantly affected the outcomes in various domains. CONCLUSION: Patients with benign goitres have subtle impairment of QoL which showed significant improvement following thyroidectomy.


Assuntos
Bócio , Tireoidectomia , Adulto , Estudos de Coortes , Feminino , Bócio/psicologia , Bócio/cirurgia , Humanos , Estudos Prospectivos , Qualidade de Vida
3.
Artigo em Inglês | MEDLINE | ID: mdl-36068859

RESUMO

Background: The rapidity of spread of COVID-19 infection during the second wave of the pandemic placed tremendous stress on healthcare resources. This study evaluated the effectiveness of a monitored home isolation (HI) program. Methods: In this descriptive longitudinal study, symptomatic patients were screened in the HI clinic and eligible patients were followed up at home using tele-consultation, until recovery or hospitalization. HI failure was defined as need for hospitalization. Factors associated with HI failure were assessed using logistic regression analysis and expressed as odds ratio (OR) with 95% confidence interval (CI). Results: During April and May 2021, 1957 RT-PCR confirmed patients (984 male) with mean (SD) age 40 (13.5) years were enrolled; 93.3% (n = 1825) were successfully managed at home. Of the 132 patients (6.7%) who failed HI, 57 (43.2%) required oxygen therapy and 23 needed intensive care admissions. Overall mortality was 0.4% (7/1957). On adjusted analysis, factors associated with HI failure were age ≥60 years (OR 2.24; 95%CI 1.26-3.99), male gender (OR 2.26; 95%CI 1.44-3.57), subjective reporting of breathing difficulty (OR 3.64; 95%CI 2.08-6.37), history of cough (OR 2.08; 95%CI 1.37-3.17), and higher heart rate (OR 1.04; 95%CI 1.02-1.05). Although patient status (non-healthcare workers), no prior vaccination and ≥2 comorbidities were associated with HI failure on unadjusted analysis, these were non-significant on adjusted analysis. Conclusion: Monitored HI program can be used successfully during a pandemic wave to judicially use scare hospital resources. Older male patients presenting with breathlessness or cough may warrant closer monitoring.

4.
Horm Metab Res ; 53(4): 245-256, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33853118

RESUMO

Multiple Endocrine Neoplasia type-1 (MEN1) is an autosomal dominant disorder with a combined occurrence of tumours of parathyroid glands, pancreatic islets, and anterior pituitary. About 90% of these patients carry mutations in the MEN1 gene, though the spectrum is not well defined in India. Forty clinically suspected cases of MEN1 were enrolled prospectively over six years; 32 patients (23 index-cases and nine affected relatives) with≥2 classical endocrine tumours of MEN1 were considered definite, and eight were categorised as 'MEN1-like'. Details of their clinical presentation, treatment and mutational analysis including MEN1 gene, 3' and 5' untranslated regions (UTR) of MEN1, CDKN1B, and CaSR genes were collated. Asymptomatic first-degree relatives were also screened. Among the 32 definite MEN1 patients, all had primary hyperparathyroidism, 22 (68.7%) had gastroentero-pancreatic neuroendocrine tumours, and 21 (66%) had pituitary adenoma. Of the 23 definite index-cases, 13 (56.5%) carried mutations in the MEN1 gene. Five of nine affected first-degree relatives (55.5%), and four of 10 asymptomatic relatives (40%) also had MEN1 mutations. Seven of 10 MEN1 mutation-negative definite index-cases harboured p.V109G polymorphism in the CDKN1B gene. All eight MEN1-like cases were negative for mutations and large deletions in MEN1, mutations in 3' and 5' UTR of MEN1, CaSR and CDKN1B genes. The study has helped to clearly document the pattern of mutations among Indian MEN1 patients. However, the absence of MEN1 mutation in ~44% of cases and the presence of p.V109G polymorphism in CDKN1B gene raise the question whether such polymorphisms could independently contribute to pathogenesis.


Assuntos
Neoplasia Endócrina Múltipla Tipo 1/genética , Mutação , Proteínas Proto-Oncogênicas/genética , Adolescente , Adulto , Idoso , Inibidor de Quinase Dependente de Ciclina p27/genética , Análise Mutacional de DNA , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/metabolismo , Linhagem , Estudos Prospectivos , Proteínas Proto-Oncogênicas/metabolismo , Receptores de Detecção de Cálcio/genética , Regiões não Traduzidas , Adulto Jovem
5.
World J Surg ; 45(2): 496-506, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33078217

RESUMO

BACKGROUND: We aim to analyze the clinicopathological profile and outcomes of management for children with papillary thyroid carcinoma (PTC). METHODS: Relevant clinical data of children ≤ 18 years of age managed for PTC between January 2006 and July 2018 as well as details of their follow-up till December 2019 were retrospectively collected and analyzed. RESULTS: There were 82 children with PTC that were managed during the study period. At presentation, 39 (47.6%) had cervical lymphadenopathy, while 9 (11%) had systemic metastasis. Majority of patients 39 (47.6%) underwent total thyroidectomy with a selective neck dissection, while total thyroidectomy alone was performed in 26 (31.7%). Following surgery, hypocalcemia was seen in 39 (47.6%): 28 (34.1%) were temporary, while 11 (13.4%) were permanent. Twenty-eight (34%) developed persistent disease after surgery and 131I therapy. Significant risk factors for persistence and metastatic disease were metastatic cervical lymph node at presentation (p = 0.002) and tumor size (p = 0.014), respectively. The mean duration of follow-up was 60.3 (range 12-150) months with a mean overall disease-free survival of 60 months (95% CI 57.11, 77.95). CONCLUSION: Children with papillary thyroid cancers present with aggressive disease, 47.6% with cervical nodal metastasis and 11% with distant metastasis in this cohort. The rate of post-thyroidectomy hypocalcemia in this study is substantial, and efforts to reduce it are actively being pursued. The presence of metastatic cervical lymph node at presentation (p = 0.002) and tumor size (p = 0.014) were the only significant risk factors for persistent and metastatic disease, respectively, in this study.


Assuntos
Carcinoma Papilar/cirurgia , Câncer Papilífero da Tireoide/cirurgia , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia , Adolescente , Carcinoma Papilar/patologia , Criança , Pré-Escolar , Feminino , Humanos , Linfonodos/patologia , Metástase Linfática , Masculino , Esvaziamento Cervical , Prognóstico , Estudos Retrospectivos , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Resultado do Tratamento
6.
Langenbecks Arch Surg ; 406(4): 1211-1221, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33174169

RESUMO

BACKGROUND: Postoperative hypocalcemia after total thyroidectomy (TT) still remains common. This prospective observation study examined the role of intraoperative time period (IOP) and intravenous fluids (IVF) in transient and permanent (> 6 months) hypocalcemia post-TT. SUBJECTS AND METHOD: Consecutive patients (n = 328; age = median (IQR); 34 (15) years; M:F = 65:263) with benign or malignant thyroid disease undergoing TT were evaluated for IOP, intraoperative IVF, serum corrected calcium, intact parathormone (iPTH), and 25-hydroxyvitamin D (25OHD) levels at baseline, 48 h, and 6 months post-TT. RESULTS: The incidence of symptomatic transient and permanent hypocalcemia post-TT was 33.5% and 7.9% respectively. In multivariate logistic regression analysis, the independent risk factors for transient hypocalcemia were IOP (odds ratio: 11.6), 48-h iPTH (4.8), IVF (2.9), hyperthyroidism (2.8), and percent calcium decline (1.07), while 25OHD deficiency increased the risk by 10.5 odds in subset with preoperative hypocalcemia. In receiver operating characteristic analysis, IOP, and IVF strongly predicted transient hypocalcemia with a threshold of 123 min and 1085 mL. Area under the curve, sensitivity, and specificity were 0.883 (95% CI: 0.838-0.928), 88.1%, and 74.4% and 0.883 (0.840-0.926; each P = 0.001), 84.4%, and 74.4% respectively. Serum 48-h calcium < 7.8 mg/dL was the only reliable predictor of permanent hypocalcemia. CONCLUSION: Operative duration > 123 min and IVF > 1085 mL increased the risk of transient hypocalcemia post-TT manyfold but not permanent hypocalcemia. Routine intraoperative identification, preservation of viable in situ parathyroid glands, and laryngeal nerves increased IOP and rates of transient hypocalcemia but improved long-term outcome.


Assuntos
Hipocalcemia , Cálcio , Pré-Escolar , Humanos , Hidrodinâmica , Hipocalcemia/epidemiologia , Hipocalcemia/etiologia , Hormônio Paratireóideo , Complicações Pós-Operatórias/epidemiologia , Estudos Prospectivos , Tireoidectomia/efeitos adversos
7.
Endocr Pract ; 26(12): 1442-1450, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33471736

RESUMO

OBJECTIVE: This prospective study was carried out to assess trabecular bone score, bone mineral density (BMD), and bone biochemistry in Indian subjects with symptomatic primary hyperparathyroidism (PHPT), and to study the influence of baseline parathyroid hormone (PTH) on recovery of these parameters following curative surgery. METHODS: This was a 2-year prospective study conducted at a tertiary care centre in southern India. Baseline assessment included demographic details, mode of presentation, bone mineral biochemistry, BMD, trabecular bone score (TBS), and bone turnover markers (BTMs). These parameters were reassessed at the end of the first and second years following curative parathyroid surgery. RESULTS: Fifty-one subjects (32 men and 19 women) with PHPT who had undergone curative parathyroidectomy were included in this study. The mean (SD) age was 44.6 (13.7) years. The TBS, BTMs, and BMD at lumbar spine and forearm were significantly worse at baseline in subjects with higher baseline PTH (≥250 pg/mL) when compared to the group with lower baseline PTH (<250 pg/mL). At the end of 2 years, the difference between high versus low PTH groups (mean ± SD) persisted only for forearm BMD (0.638±0.093 versus 0.698±0.041 g/cm2; P =.01). However, on follow-up visits in the first and second year after curative parathyroidectomy, there was no significant difference in BTMs, BMD at the femoral neck, lumbar spine, and TBS between the 2 groups stratified by baseline PTH. CONCLUSION: The BMD at the forearm remained significantly worse in individuals with high baseline PTH even at 2 years after surgery, while other parameters including TBS improved significantly from baseline. ABBREVIATIONS: 25(OH)D = 25-hydroxyvitamin D; BMD = bone mineral density; BMI = body mass index; BTMs = Bone turnover markers; CTX = C-terminal telopeptide of type 1 collagen; DXA = dual energy X-ray absorptiometry; P1NP = N-terminal propeptide of type 1 procollagen; PHPT = primary hyperparathyroidism; PTH = parathyroid hormone; TBS = trabecular bone score.


Assuntos
Densidade Óssea , Hiperparatireoidismo Primário , Absorciometria de Fóton , Adulto , Remodelação Óssea , Osso Esponjoso , Feminino , Humanos , Hiperparatireoidismo Primário/cirurgia , Índia , Masculino , Hormônio Paratireóideo , Paratireoidectomia , Estudos Prospectivos
8.
Endocr Pract ; 23(8): 907-914, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28614007

RESUMO

OBJECTIVE: Ectopic adrenocorticotropic hormone (ACTH) secretion is a less common cause of Cushing syndrome and is seen in 5 to 10% of cases with endogenous hypercortisolemia. We hereby describe our experience of patients with ectopic ACTH syndrome, who have been managed over the past 10 years at a tertiary care center in Southern India. METHODS: The inpatient and outpatient records of patients from 2006 to 2015 were retrospectively reviewed. The clinical features, clinical history, biochemical values, imaging features, including radiologic findings and positron emission tomography scans, management, details of follow-up, and outcomes, were documented. We compared the biochemical findings in these patients with 20 consecutive patients with Cushing disease (Cushing syndrome of pituitary origin). RESULTS: A total of 21 patients were studied. The median age at presentation was 34 years (range, 19 to 55 years). Seven patients had thymic carcinoid, 7 had bronchial carcinoid, 3 had lung malignancies, 2 had medullary carcinoma thyroid, 1 patient had a pancreatic neuroendocrine tumor, and 1 patient had an occult source of ACTH. The most common clinical features at presentation were muscle weakness (95%), hyperpigmentation (90%), facial puffiness (76%), easy bruising (61%), edema (57%), and striae (52%). Extensive acne was seen in a large number of patients (43%). Only 3 patients (14%) had central obesity. The median 8 am cortisol was 55.5 µg/dL (range, 3.8 to 131 µg/dL), median 8 am ACTH was 207 pg/mL (range, 31.1 to 703 pg/mL), and the median 24-hour urinary free cortisol was 2,484 µg (range, 248 to 25,438 µg). Basal cortisol and ACTH, as well as midnight cortisol and ACTH level, were markedly higher in patients with ectopic Cushing syndrome as compared to patients with Cushing disease. Twelve of 21 patients had developed life-threatening infections by follow-up. Nine patients had undergone surgical intervention to address the primary tumor. However, only 1 patient exhibited a complete cure on follow-up. CONCLUSION: In our series, ectopic Cushing syndrome was most commonly seen in association with intrathoracic tumors such as bronchial or thymic carcinoid. Hyperpigmentation and proximal myopathy were frequent, while central obesity was uncommon. Early and rapid control of hypercortisolemia was important in order to prevent life-threatening infections and metabolic complications. ABBREVIATIONS: ACTH = adrenocorticotropic hormone CT = computed tomography DOTATATE = 68Ga-DOTA-Tyr3-octreotate ECS = ectopic Cushing syndrome FDG = fluorodeoxyglucose MTC = medullary thyroid cancer NET = neuroendocrine tumor PET = positron emission tomography.


Assuntos
Síndrome de ACTH Ectópico/fisiopatologia , Síndrome de Cushing/fisiopatologia , Neoplasias/metabolismo , Síndrome de ACTH Ectópico/complicações , Síndrome de ACTH Ectópico/diagnóstico por imagem , Síndrome de ACTH Ectópico/metabolismo , Acne Vulgar/etiologia , Adulto , Neoplasias Brônquicas/diagnóstico por imagem , Neoplasias Brônquicas/metabolismo , Tumor Carcinoide/diagnóstico por imagem , Tumor Carcinoide/metabolismo , Carcinoma Neuroendócrino/diagnóstico por imagem , Carcinoma Neuroendócrino/metabolismo , Síndrome de Cushing/etiologia , Síndrome de Cushing/metabolismo , Edema/epidemiologia , Feminino , Humanos , Hidrocortisona/metabolismo , Hiperpigmentação/etiologia , Índia , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/metabolismo , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/etiologia , Neoplasias/diagnóstico por imagem , Tumores Neuroendócrinos/diagnóstico por imagem , Tumores Neuroendócrinos/metabolismo , Obesidade Abdominal/etiologia , Compostos Organometálicos , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/metabolismo , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos , Estudos Retrospectivos , Centros de Atenção Terciária , Neoplasias do Timo/diagnóstico por imagem , Neoplasias do Timo/metabolismo , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/metabolismo , Adulto Jovem
9.
Ann Hematol ; 95(9): 1429-34, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27370992

RESUMO

The purpose of this research is to study the outcomes of splenectomy for chronic and persistent immune thrombocytopenia (ITP). This study is a retrospective analysis of 254 patients with chronic or persistent ITP who underwent splenectomy at CMC, Vellore, India between 1995 and 2009. Responses were assessed based on standard criteria. One hundred and sixty seven adults and 87 children with a median age of 29 years (range 2-64) with persistent (n = 103) or chronic ITP (n = 151) was studied. Response was seen in 229 (90.2 %) including CR in 74.4 % at a median time of 1 day (range 1-54). Infections following splenectomy were reported in 16 %. Deaths related to post splenectomy sepsis occurred in 1.57 % and major bleeding in 0.78 %. At median follow-up of 54.3 months (range 1-290), 178 (70.1 %) remain in remission. The 5-year and 10-year overall survival (OS) is 97.4 ± 1.2 % and 94.9 ± 2.1 %, respectively, while the 5-year and 10-year event-free survival (EFS) is 76.5 + 2.9 % and 71.0 + 3.9 %, respectively. Splenectomy is associated with long-term remission rates of >70 % in chronic or persistent ITP.


Assuntos
Avaliação de Resultados em Cuidados de Saúde/métodos , Avaliação de Resultados em Cuidados de Saúde/estatística & dados numéricos , Púrpura Trombocitopênica Idiopática/cirurgia , Esplenectomia/métodos , Adolescente , Adulto , Criança , Pré-Escolar , Doença Crônica , Intervalo Livre de Doença , Feminino , Seguimentos , Hemorragia/etiologia , Hemorragia/mortalidade , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/mortalidade , Modelos de Riscos Proporcionais , Púrpura Trombocitopênica Idiopática/patologia , Estudos Retrospectivos , Sepse/etiologia , Sepse/mortalidade , Esplenectomia/efeitos adversos , Taxa de Sobrevida , Fatores de Tempo , Adulto Jovem
10.
World J Surg ; 40(4): 881-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26578317

RESUMO

BACKGROUND: The purpose of this study was to determine the prevalence of hypomagnesemia in patients undergoing thyroidectomy and evaluate the relationship of hypomagnesemia with transient and severe hypocalcemia. MATERIALS AND METHODS: This was a prospective observational study of 50 patients undergoing thyroidectomy. Blood samples were collected pre- and postoperatively for calcium, albumin, magnesium, phosphorous and parathormone (PTH). Signs, symptoms of hypocalcemia and volume of intravenous fluids used perioperatively were documented. The statistical analysis was performed using STATA I/C 10.1. RESULTS: Preoperatively, twelve patients (24 %) had hypomagnesemia and one (2 %) hypocalcemia. On the first postoperative day, hypomagnesemia was seen in 70 % and hypocalcemia in 30 %. A similar trend was observed in the fall and rise of postoperative calcium and magnesium values (p = 0.41). Severe hypocalcemia was present in three patients (6 %). All three patients had a very low postoperative PTH (<2 pg/ml). Among them, two patients (66 %) had hypomagnesemia and their hypocalcemia responded to intravenous magnesium correction. Significant risk factors for postoperative hypocalcemia include a higher volume of fluid used perioperatively and low postoperative PTH (<8 pg/ml) (p = 0.01 and 0.03, respectively). CONCLUSION: Preoperative hypomagnesemia (24 %) was prevalent in this cohort of patients. Postoperative hypomagnesemia is a common event (70 %) following total thyroidectomy, and magnesium levels tend to mimic the calcium levels postoperatively. The cause of hypocalcemia post-thyroidectomy in this study is mainly a factor of parathyroid function and fluid status. Severe hypocalcemia is a rare event, and hypomagnesemia is associated in the majority of these patients. The role of magnesium correction to alleviate severe hypocalcemia needs to be further studied.


Assuntos
Cálcio/sangue , Hipocalcemia/sangue , Magnésio/sangue , Hormônio Paratireóideo/sangue , Complicações Pós-Operatórias/sangue , Tireoidectomia , Desequilíbrio Hidroeletrolítico/sangue , Administração Intravenosa , Adolescente , Adulto , Idoso , Feminino , Humanos , Hipocalcemia/tratamento farmacológico , Hipocalcemia/epidemiologia , Magnésio/uso terapêutico , Masculino , Pessoa de Meia-Idade , Glândulas Paratireoides , Fósforo/sangue , Prevalência , Estudos Prospectivos , Fatores de Risco , Albumina Sérica/metabolismo , Índice de Gravidade de Doença , Desequilíbrio Hidroeletrolítico/tratamento farmacológico , Desequilíbrio Hidroeletrolítico/epidemiologia , Adulto Jovem
11.
Gene ; 895: 147980, 2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-37951371

RESUMO

Triple-negative breast cancer (TNBC) is a heterogeneous disease with poor survival compared to other subtypes. Patients with residual disease after neoadjuvant chemotherapy (NAC) face an increased risk of relapse and death. We aimed to characterize the mutational landscape of this subset to offer insights into relapse pathogenesis and potential therapeutic targets. We retrospectively analyzed archived paired (pre- and post-NAC) tumor samples from 25 patients with TNBC with residual disease using a targeted 72-gene next-generation sequencing panel. Our findings revealed a stable mutational burden in both pre- and post-NAC samples, with a median count of 12 variants (IQR 7-17.25) per sample. TP53, PMS2, PTEN, ERBB2, and NOTCH1 variants were observed in pre-NAC samples predominantly. Notably, post-NAC samples exhibited a significant increase in AR gene mutations, suggesting potential prognostic and predictive implications. No difference in mutational burden was found between patients who did and did not receive platinum (p = 0.94), or between those with and without recurrence (p = 0.49). We employed K-means clustering to categorize the patients based on their variant profiles, aiding in the prediction of possible patterns associated with recurrence. Our study was limited by its small sample size and retrospective design, suggesting the need for further validation in larger prospective cohorts.


Assuntos
Neoplasias da Mama , Neoplasias de Mama Triplo Negativas , Humanos , Feminino , Neoplasias de Mama Triplo Negativas/tratamento farmacológico , Neoplasias de Mama Triplo Negativas/genética , Neoplasias de Mama Triplo Negativas/patologia , Estudos Retrospectivos , Terapia Neoadjuvante , Estudos Prospectivos , Recidiva Local de Neoplasia/tratamento farmacológico , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/patologia , Neoplasia Residual/genética , Neoplasia Residual/tratamento farmacológico , Neoplasia Residual/patologia , Mutação , Recidiva
12.
Indian J Endocrinol Metab ; 28(1): 3-10, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38533287

RESUMO

The increased detection of thyroid nodules in the human population has led to an increase in the number of thyroid surgeries without an improvement in survival outcomes. Though the choice for surgery is straightforward in malignant thyroid nodules, the decision is far more complex in those nodules that get categorized into indeterminate thyroid nodules (ITN) by fine needle aspiration. Therefore, there is a pressing need to develop a tool that will aid in decision-making among the ITN. In this context, the development of various molecular testing (MT) panels has helped to confirm or rule out malignancy, reducing unnecessary surgeries and potentially guiding the extent of surgery as well. Currently, such tests are widely used among the Western population but these MT panels are not used by the South Asian population because of non-availability of validated panels and the high cost involved. There is a need to develop a suitable panel which is population-specific and validate the same. In this review, we would focus on current trends in the management of ITN among the South Asian population and how to develop a novel MT panel which is cost-effective, with high diagnostic accuracy obviating the need for expensive panels that already exist.

13.
Eur J Hum Genet ; 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38538877

RESUMO

Mutations in BRCA1 and BRCA2 significantly elevate the risk of developing breast and ovarian cancer. Limited data exists regarding the prevalence of BRCA mutations, and optimal, cost-effective testing strategies in developing countries like India. This study aimed to evaluate the utility of a Next Generation Sequencing (NGS) panel for BRCA1/2 mutation testing among women diagnosed with, or at risk of developing hereditary breast and ovarian cancers. We also aimed to identify population specific BRCA1/2 mutation hotspots, to enable the development of more affordable testing strategies. We identified 921 patients with breast and ovarian cancer who underwent mutation testing. The target enrichment was followed by targeted NGS in 772 patients and an allele-specific PCR (ASPCR) based genotyping for BRCA1:c.68_69delAG (or 185delAG), was carried out in 149 patients. We identified 188 (20.4%) patients with BRCA1/2 variants: 118 (62.8%) with pathogenic/likely pathogenic and 70 (37.2%) with VUS. The 185delAG was identified as a recurrent mutation in the Southern Indian population, accounting for 24.6% of the pathogenic variants. In addition, a family history of breast, ovary, pancreas, or prostate (BOPP) cancer was found to be associated with an increased risk of identifying a deleterious BRCA1/2 variant [OR = 2.11 (95% CI 1.45-3.07) p ≤ 0.001]. These results suggest that Targeted NGS is a sensitive and specific strategy for BRCA testing. For Southern Indian patients, a two-tiered approach can be considered: Initial screening with ASPCR for BRCA1 185delAG followed by NGS for those testing negative. Expanding the gene panel and identifying other population-specific mutation hot spots is a promising area with potential for improvements in testing and treatment strategies.

14.
Indian J Surg Oncol ; 14(3): 609-618, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37900628

RESUMO

Aims and Objectives: Thyroglossal duct cyst (TDC) is a common congenital cyst with an incidence of about 7%. Thyroglossal duct cyst carcinoma (TDCC) is a rare sequel which arises from TDC and has an incidence of about 1%. As these are rare, they do not have well-defined management guidelines. The aim of this study was to analyse the clinical profile and pathological characteristics of patients with thyroglossal duct cyst carcinoma and to propose a protocol for their treatment and follow-up. Materials and Methods: A retrospective study was done from January 2000 to December 2019. All the clinical details, imaging characteristics, treatment and histopathology were analysed. Results: The mean age group in our study was 37.9 years with a female preponderance. The clinical features like rapid increase in size, fixity of the lump and lymph node metastasis were not very common. Seventy-five percent of our patients who underwent imaging had suspicious characteristics. Fifty-six percent of our patients had FNAC suggestive of TDCC. Fifty percent of our patients had concomitant thyroid carcinoma. None of our patients had distant metastasis at follow-up. Conclusions: TDCC is rare and a disease of young adulthood and usually has good prognosis. It may be a clinical surprise or a small lesion which can be detected with ultrasound and targeted FNAC. There is high rate of concomitant thyroid carcinoma and hence needs careful assessment. Sistrunk's procedure with total thyroidectomy either staged or simultaneously has good outcome and permits adjuvant treatment.

15.
Indian J Radiol Imaging ; 32(4): 615-620, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36451945

RESUMO

A brown tumor is one of the manifestations of hyperparathyroidism. It is a rare type of bone lesion that most often occurs in mandible, ribs, and large bones. Spinal involvement is extremely rare. We report an unusual case of a brown tumor of the axis vertebra in a 33-year-old male who presented to the orthopaedic clinic with posttraumatic C2 vertebra fracture and myelopathy. To plan further fixation and stabilization of C2 fracture, the patient underwent a plain radiograph and magnetic resonance imaging (MRI) of the cervical spine. The available routine chest radiograph at the time of MRI reporting clinched the diagnosis of primary hyperparathyroidism with a brown tumor of the axis vertebra. Thus, familiarity with subtle radiographic findings of this condition not only led to early diagnosis and appropriate treatment but also avoided unnecessary C2 biopsy and hardware fixation.

16.
Indian J Surg Oncol ; 13(1): 51-60, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35462653

RESUMO

Involvement of the aerodigestive tract is reported in one-third of patients with locally invasive thyroid cancer. It is associated with significant morbidity and mortality, with airway obstruction being the immediate cause of death in 50% of patients who die of thyroid cancer. Management is challenging and includes the risks of extensive surgery as well as decisions regarding the type of surgery and adjuvant therapy. Retrospective cohort study, reporting institutional experience with patients who underwent laryngotracheal resection for invasive thyroid cancer over the past 10 years. Twenty-two patients were included in the study. All patients had Shin stage 4 disease. The median follow-up was 18 months. Five patients had systemic metastasis at diagnosis. Nineteen patients underwent tracheal resection and end to end anastomosis, and 3 underwent laryngectomy. The mean length of the resected trachea was 2.94 cm. Tracheal releasing manoeuvres were utilized in 11 patients. Three patients required a tracheostomy postoperatively. Other complications included a temporary vocal cord palsy in 5 patients, temporary hypocalcemia in 6 and permanent hypocalcemia in 1 patient. Adjuvant radiotherapy was utilized in 9 patients and I-131 therapy in 13 patients. Three patients died during follow-up. Two patients developed thyroid bed recurrence, two patients developed systemic metastasis on follow-up. Most patients survived for a prolonged period with only biochemical evidence of disease persistence and three with no evidence of disease. Laryngotracheal resection with primary anastomosis is a safe and effective option, providing adequate symptomatic relief as well as prolonged survival in carefully selected patients with invasive Shin stage 4 disease.

17.
Updates Surg ; 74(1): 97-105, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34727341

RESUMO

We conducted this study to evaluate the ability of indocyanine green (ICG) and near infra-red fluorescence (NIRF) camera to aid in the identification and assessment of viability of parathyroid glands during thyroid surgery. A prospective observational study was conducted between May and October 2020 among 50 consecutive patients who underwent total thyroidectomy at a single institution. Parathyroid glands were identified under white light during thyroidectomy following which reconstituted ICG was injected through a peripheral vein and the location of parathyroid glands was confirmed. The perfusion to the parathyroid gland was assessed by documenting the fluorescence intensity score (FIS) and the parathyroid angiogram score (PAS). There was no difference in the number of parathyroid glands seen on visual inspection 147 (73.5%) when compared to under NIRF camera, 146 (73%). Though the rate of postoperative hypoparathyroidism was lower in the cohort with FIS 3 (14.2%) compared to score 2 and 1 (28.5% and 100%, respectively), this was not significant (p = 0.35). A significant correlation was noted between a delayed flow on PAS and the development of post-thyroidectomy hypoparathyroidism (p = 0.01). PAS had a sensitivity of 100%, specificity of 88.6%, NPV of 100% and PPV of 55.6% to predict the development of post-thyroidectomy hypoparathyroidism. In this study, there was no additional benefit of ICG and NIRF camera in the identification of parathyroid glands. However, ICG angiogram seems to be a good adjunct for the intraoperative assessment of the viability of the parathyroid glands and accurately predicts the development of postoperative hypoparathyroidism.


Assuntos
Hipoparatireoidismo , Glândulas Paratireoides , Humanos , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/etiologia , Verde de Indocianina , Glândulas Paratireoides/diagnóstico por imagem , Glândulas Paratireoides/cirurgia , Complicações Pós-Operatórias , Glândula Tireoide , Tireoidectomia
18.
Indian J Surg Oncol ; 13(1): 33-39, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35462675

RESUMO

Neuromonitoring has proved to be a useful technique in reducing nerve injury during thyroid surgery; however, costs continue to limit its use in resource-constrained settings. This study was done to assess the functional integrity of the recurrent laryngeal nerve (RLN) during thyroid surgery using palpation assessment of posterior cricoarytenoid muscle twitch in response to RLN stimulation. Between August 2016 and July 2017, 24 patients with 47 nerves at risk (NARs) underwent thyroid surgery with visual identification and testing of 44 RLNs. The functional integrity of the RLN was checked by stimulation of the RLN. Intraoperative assessment showed 100% sensitivity and positive predictive value in predicting postoperative vocal cord function. The postoperative vocal cord assessment confirmed all 44 nerves tested to be normally functioning. The mean (standard deviation) peak-to-peak amplitude and latency of the CMAP were 0.889 (0.740)/1.336 (1.660) mV and 2.295 (0.319)/2.217 (0.393) ms for left/right side NARs, respectively, with no statistically significant difference (P > 0.05). Palpation assessment of the posterior cricoarytenoid muscle provides a simple and reliable technique for confirming integrity of the RLN. Combining palpation assessment with CMAP from the inferior constrictor muscle may help reduce potential false negative results. With the use of our in-house built device which is significantly cheaper than the commercial ones, this could be considered a low-cost alternative to current established techniques.

19.
Indian J Surg Oncol ; 13(2): 251-259, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35782795

RESUMO

This study was conducted among patients with adrenocortical carcinoma (ACC) to analyze their clinico-pathological profile, management outcomes, and risk factors for local recurrence, systemic metastasis, and survival. The data of patients with ACC who were managed at a single institution between January 2004 and December 2016 was retrospectively collected and analyzed using STATA 13.1. Forty-four patients with a diagnosis of ACC were included in the study. The mean age at presentation was 38.5 ± 14.6 (9-74) with a male preponderance. Functioning tumors represented 59.1% (n = 26), cortisol being the most common hormone secreted. Forty patients (90.9%) underwent surgery, 14 (35%) of whom required an en bloc resection of adjacent organs. Fifteen (37.5%) received radiation (RT) to the postoperative bed while chemotherapy and mitotane were administered in 12 (27.3%) and 9 (20.5%) respectively. The mean follow-up was 34.3 ± 32.7 months. Twelve (30%) patients developed local recurrence, 21 (55.3%) had systemic metastasis, and 15 (34.1%) expired. The mean 1-year and 5-year overall survival rates were 77% and 65.7% respectively. On multivariate analysis, patients with ENSAT stage III/IV were significantly associated with local recurrence (p = 0.011) and metastasis (p = 0.037). Age > 50 (p = 0.003) and ENSAT III/IV (p = 0.017) were significantly associated with mortality on univariate analysis but not on multivariate analysis. In our study population, patients presented at a younger age with a male preponderance. Ninety percent underwent surgery, a subset (35%) requiring resection of adjacent organs to ensure R0 resection. Patients presenting at ENSAT stage I/II have better outcomes.

20.
Ann Surg Oncol ; 18(1): 219-25, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20878247

RESUMO

BACKGROUND: Medullary thyroid carcinoma (MTC) accounts for 5 to 10% of all thyroid cancers but is responsible for a disproportionate number of deaths. METHODS: We performed a retrospective review to describe clinical outcomes in patients with medullary thyroid carcinoma, screening a subset of patients for somatic mutations in the RET and p18 genes and performing genotype-phenotype correlation in a tertiary-care referral hospital from 1967 to 2009. RESULTS: We studied a total of 94 patients identified from a prospectively maintained thyroid cancer database. Data gathered included patient demographics, serum calcitonin, clinical outcomes, histopathology, genetic analysis, and status at final follow-up. A subset cohort (n = 50) was screened for somatic mutations in the RET gene and the three exons of the p18 gene. The subset cohort was composed of hereditary medullary thyroid carcinoma (HMTC) (n = 19, index patients = 10, screen detected = 9) and sporadic medullary thyroid carcinoma (SMTC) (n = 31). There were no mutations in the p18 gene in the subset cohort. CONCLUSIONS: A total of 67 SMTC and 27 (28.7%) HMTC cases identified. SMTC were older at initial presentation (52 vs. 34, P = 0.003), had higher preoperative serum calcitonin levels (7968 vs. 1346 ng/L, P = 0.008), and had lymph node recurrence (P = 0.001) compared to HMTC. The tumors were smaller in HMTC (P = 0.038). Overall 10-year survival in SMTC versus HMTC was 69 versus 93% (P = 0.12). On multivariate analysis, vascular invasion (hazard ratio 6.4, P = 0.019) was an adverse predictor for disease-free survival. HMTC in the era of RET analysis presents with a smaller primary tumor, lower preoperative serum calcitonin levels, and lower rates of lymph node metastasis. Mutations in the p18 gene were not a major factor in medullary thyroid carcinoma tumorigenesis.


Assuntos
Neoplasias da Glândula Tireoide/mortalidade , Neoplasias da Glândula Tireoide/cirurgia , Adulto , Biomarcadores Tumorais/sangue , Biomarcadores Tumorais/genética , Calcitonina/sangue , Carcinoma Neuroendócrino , Estudos de Coortes , Inibidor de Quinase Dependente de Ciclina p18/genética , DNA de Neoplasias/genética , Feminino , Seguimentos , Estudos de Associação Genética , Humanos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Mutação/genética , Reação em Cadeia da Polimerase , Estudos Prospectivos , Proteínas Proto-Oncogênicas c-ret/genética , Estudos Retrospectivos , Taxa de Sobrevida , Neoplasias da Glândula Tireoide/genética , Tireoidectomia , Resultado do Tratamento
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