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INTRODUCTION: Inactivating mutations of the calcium-sensing receptor (CASR) gene result in neonatal severe hyperparathyroidism (NSHPT). Total parathyroidectomy is an effective way to control life-threatening hypercalcemia in NSHPT but leads to permanent hypoparathyroidism. An alternative surgical option is subtotal parathyroidectomy. However, few cases were reported in the literature. Here, we report two unrelated NSHPT patients, one with a novel homozygous mutation (c.1817T>C; p.Leu606Pro) in CASRand the other with heterozygous for the same mutation who also carried two rare intronic variants in CASR. The outcomes of subtotal parathyroidectomy in these patients are also described. CASE PRESENTATION: Two infants presented with an alteration of consciousness, respiratory distress, and bradycardia. Severe hypercalcemia, hypophosphatemia, and markedly elevated parathyroid hormone levels were identified, suggesting NSHPT. Cinacalcet was unable to control calcium (Ca) levels of both patients. A novel heterozygous and homozygous missense mutation c.1817T>C; p.Leu606Pro was identified in patients 1 and 2, respectively. Based on the model prediction, proline substitution at Leu606 is likely to disrupt conversion between the active and inactive conformations at the extracellular to transmembrane domain interface of CASR. In addition, two extremely rare intronic variants in CASR (chr3:g.122180314A>G and chr3:g.122251601G>A, based on GRCh38) were identified in patient 1 and his mother. These variants might have contributed to the clinical manifestations of patient 1 who was heterozygous for the c.1817T>C; p.Leu606Pro variant. Subtotal parathyroidectomy was performed by removing three and a half parathyroid glands. So far, patient 1 has been in normocalcemia for 5 years. Patient 2 was in normocalcemia for 16 months after surgery and subsequently developed mild hypoparathyroidism which required only low-dose calcitriol treatment. CONCLUSION: We report a novel heterozygous and homozygous missense variant (c.1817T>C; p.Leu606Pro) in CASR in two NSHPT patients. The mutation likely disrupts conformational changes of CASR and results in cinacalcet unresponsiveness. Intronic variants in CASR identified in the patient with heterozygous variant might have contributed to the clinical manifestations of the patient. Although total parathyroidectomy is widely accepted as a standard treatment for NSHPT, we demonstrate that subtotal parathyroidectomy is also an effective procedure to normalize Ca levels and allow these patients to be in normocalcemia or mild hypoparathyroidism, which is simply controlled by low-dose calcitriol treatment. Subtotal parathyroidectomy appeared to be an effective treatment for NSHPT regardless of the molecular etiologies.
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Hipercalcemia , Hiperparatireoidismo Primário , Hipoparatireoidismo , Recém-Nascido , Lactente , Humanos , Cinacalcete/uso terapêutico , Cálcio , Hipercalcemia/genética , Hipercalcemia/tratamento farmacológico , Receptores de Detecção de Cálcio/genética , Paratireoidectomia , Calcitriol , Hiperparatireoidismo Primário/genética , Mutação , Hipoparatireoidismo/genética , Hipoparatireoidismo/tratamento farmacológicoRESUMO
BACKGROUND: Breast cancer incidence in Northern Thailand has shown a continuous increase since records began in 1983. In 2002 the urgency of the situation prompted Maharaj Nakorn Chiang Mai Hospital to initiate the Suandok Breast Cancer Network (SBCN). METHODS: The SBCN is a not-for-profit organization in the university hospital which serves as a training and education center and provides highly specialized medical care for patients in Chiang Mai and in 5 provinces of northern Thailand, with the key mission of improving breast cancer care. The short-term goal was to overcome the barriers to engagement with breast cancer and its treatment and the long-term goal was to increase the overall survival rate of breast cancer patients in our region. RESULTS: We enrolled breast cancer patients treated at Maharaj Nakorn Chiang Mai Hospital between January 2006 and December 2015 and divided into 2 cohorts: 1485 patients who were diagnosed from 2006 to 2009 (cohort 1: early implementation of SBCN) and 2383 patients who were diagnosed from 2010 to 2015 (cohort 2: full implementation of SBCN). Criteria to measure improved cancer waiting time (CWT) would include: time to diagnosis, time to surgery, and time to radiotherapy. The 5-year overall survival (OS) of the cohort 2 was higher than that in cohort 1, at 73.8 (72.0-75.5) compared to 71.5 (69.2-73.7) (p-value = 0.03). CONCLUSIONS: Reasons behind the success of project include the uniformity of care encouragement, service network development and timely access to each step of breast cancer management. The model used in SBCN could be adopted as a learning guide to improve healthcare access and outcome for breast cancer patients in low- to middle-income countries.
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Neoplasias da Mama/terapia , Redes Comunitárias , Atenção à Saúde/métodos , Implementação de Plano de Saúde , Acessibilidade aos Serviços de Saúde/organização & administração , Adulto , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/epidemiologia , Países em Desenvolvimento , Feminino , Hospitais Universitários , Humanos , Incidência , Pessoa de Meia-Idade , Estudos Retrospectivos , Taxa de Sobrevida , Tailândia/epidemiologia , Tempo para o Tratamento/estatística & dados numéricosRESUMO
Objective: This study was attempted to investigate overall survival by stage at diagnosis in female breast cancer patients in Northern Thailand by using 2 different staging systems; namely, American Joint Committee on Cancer (AJCC) Tumor (T), Nodal (N) and Metastatic (M) staging system and Surveillance Epidemiology and End Results (SEER) summary staging system. Methods: We studies female breast cancer patients whose data were registered in Chiang Mai cancer registries between January 2006 and December 2015. Data were recorded in SEER summary staging system. The TNM AJCC staging was searched in the medical records. Results: A total of 3,873 female breast cancer patients were diagnosed from 2006-2015. All data sets were recorded in SEER summary stage 2000. Early stage was the most prevalent stage at the time of diagnosis (58%), followed by loco-regional advanced stage (32%), and metastatic breast cancer (10%). The 5-year overall survival rate of early, loco-regional advanced, and metastatic stages were 85.3%, 66.4%, and 26.2%, respectively. After examining the medical records, we excluded patients who had no data on T, N, and M in their records. Finally, only 3,251 patients were analyzed for AJCC stage-specific survival. The 5-year overall survival rate in stages I, II, III, and IV were 94.4%, 85.0%, 56.6%, and 28.3%, respectively. Conclusion: Comparing to more stable economic countries, the 5-year overall survival rate for a specific stage of breast cancer in Northern Thailand was slightly lower in early stage and stage I-II in accordance with AJCC, but much lower in loco-regional stage and stage III with respect to AJCC. Nevertheless, it was similar in metastatic stage and stage IV according to AJCC.
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Neoplasias da Mama/mortalidade , Neoplasias da Mama/patologia , Estadiamento de Neoplasias/estatística & dados numéricos , Sistema de Registros/estatística & dados numéricos , Adulto , Neoplasias da Mama/classificação , Neoplasias da Mama/terapia , Terapia Combinada , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Programa de SEER , Taxa de Sobrevida , TailândiaRESUMO
BACKGROUND: We report the safety and efficacy of eribulin as a late treatment line in Thai metastatic breast cancer (MBC) patients. PATIENTS AND METHODS: A total of 30 MBC patients treated with eribulin between January 2014 and January 2017 were retrospectively analyzed. The patients were scheduled to receive 1.4 mg/m2 of eribulin on day 1, day 8 and subsequently every 21 days. All patients had previously received at least three chemotherapy regimens including anthracycline and taxane. Response rate and progression-free survival (PFS) were analyzed. RESULTS: The median age was 56 years (range, 40-74 years), with a median follow-up time of 5.7 months (range, 0.2-25 months). The overall response rate was 30% (nine patients): four patients had triple-negative breast cancer, three patients had luminal B breast cancer and two patients had luminal A breast cancer. The median PFS was 2.9 months (range, 0.2-14 months). The median number of previous chemotherapy regimens was 4 (range, 3-9). Univariate analysis showed that the number of regimens (four or fewer) prior to eribulin was statistically associated with superior PFS (P = 0.009). Multivariate analysis also showed similar statistical association between number of prior regimens (four or fewer) and better PFS adjusted by age group (≥50 years; hazard ratio = 1.29; 95% CI: 1.0-1.65; P = 0.046). There were no toxic deaths or grade 4 toxicities. Nine (30%) patients had grade 3 anemia toxicities, and the other common toxicities were leukopenia and neutropenia. Four (13%) patients required dose reduction and 16 (53%) patients required dose delay because of toxicities. CONCLUSION: Eribulin is an effective drug for heavily pretreated MBC patients with tolerable toxicities. The benefit was superior in patients who received fewer than four previous chemotherapy regimens.
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BACKGROUND: Desmoid tumor of the breast is very rare and locally aggressive but has no distant metastasis. Bilateral lesions are extremely rare, found in only 4% of patients. Two cases of bilateral desmoid tumor of the breast are reported. The clinical presentation, diagnosis, imaging, treatment, and follow-up outcomes of recurrence as well as a brief literature review are provided. CASE REPORTS: Case 1 is a 31-year-old woman who presented with nipple retraction. An ultrasound revealed BIRAD V in both breasts. She underwent a bilateral excisional biopsy under ultrasound mark with the pathology result of extra-abdominal desmoid tumor in both breasts. The patient had a bilateral mastectomy with silicone implantation due to the involved margins by excision. She remained tumor free after 7-year follow-up. Case 2 is a 28-year-old woman who presented with a lump on her right breast that she had discovered ~2 months earlier. An ultrasound showed a spiculated mass in the right breast and some circumscribed hypoechoic masses in both breasts. A bilateral breast excision was done. The pathology result was an extra-abdominal desmoid tumor. She had recurrence on both sides and underwent a mastectomy and silicone implantation. The tumor has not recurred after 1-year follow-up. CONCLUSION: Imaging cannot distinguish between benign breast lesions and malignancy. Pathology results are helpful in making a definitive diagnosis. Given that the desmoid tumor is locally aggressive, a local excision with clear margins is recommended. Chemotherapy and hormonal treatment are controversial.
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BACKGROUND: The purpose of this study was to collect data regarding breast cancer profiles and factors that affect local recurrence and distant metastasis after breast-conserving surgery (BCS) in Chiang Mai University Hospital. MATERIALS AND METHODS: This study was a retrospective review in a single institution of newly diagnosed invasive breast cancer patients who were treated with BCS between April 9, 2001 and December 25, 2011. RESULTS: A total of 185 patients treated with BCS were included in this study, with an average age of 46.83 years. The average recurrence age was 41.1 years and the average nonrecurrence age was 47.48 years, with a recurrence rate of 10.27%. Premenopause was significant in recurrence (P=0.047), as well as non-estrogen-expression patients (P=0.001) and patients who did not receive antihormonal treatment (P=0.011). CONCLUSION: The recurrence rate in our institute was 10.27%. Factors affecting recurrence after BCS included young age, premenopausal status, nonexpression of the estrogen receptor, and patients who had not received antihormonal treatment. The recurrence rate was higher in the first 90 postoperative months.
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Phyllodes tumor or cystosarcoma phyllodes is a rare disease and is usually seen in middle-aged patients. Ruptured phyllodes tumor is a very rare condition. Our study reports patient presentation, diagnosis method, and treatment of an unusual case. A 58-year-old premenopausal female was diagnosed with a phyllodes tumor and presented with a rapidly growing mass for 2 months that ruptured 1 month later. She underwent simple mastectomy at the left side of her breast and received adjuvant radiotherapy. No recurrence was found 4 months after operation.
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OBJECTIVE: Acute appendicitis and incarcerated hernia rarely present in the same episode. Our study reports patient presentation, diagnosis method, and treatment of an unusual case at the Chiang Mai University Hospital. METHOD: Case report. RESULT: A 20-year-old man visited the Chiang Mai University Hospital with right lower quadrant pain and a right groin mass which could not be reduced. The computerized tomography scan showed acute appendicitis and omentum in the hernia sac. Operative treatment was an appendectomy and herniorrhaphy. The treatment was successful, and the patient was discharged from our hospital without any complications. CONCLUSION: Concurrent acute appendicitis and incarcerated hernia are very rare, but should be kept in mind if a patient presents with right lower quadrant pain and a right groin mass. Further investigation may be helpful if the diagnosis is uncertain. Operative priority treatment depends on each individual case.
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OBJECTIVE: To investigate the treatment outcome in terms of relapse free survival and overall survival, and explore the determinants of the clinical outcome in HER-2/neu positive breast cancer patients who received or not received adjuvant trastuzumab. MATERIAL AND METHOD: The authors reviewed retrospectively of newly diagnosed non-metastatic breast cancer patients at the Faculty of Medicine, Chiang Mai University between January 2004 and December 2007. Comparisons were made between the two cohorts, women who did not receive adjuvant trastuzumab (100 patients) and women who received adjuvant trastuzumab (14 patients). RESULTS: The median follow-up time was 4.7 years. Four-year relapse-free survival (RFS) and overall survival (OS) in patients receiving trastuzumab was 92.3% and 100%, respectively. In the cohort of HER-2 positive patients who did not receive trastuzumab, the 4-year RFS in this group was 68.2% and 4-year OS was 87.8%. The difference was not statistically significant between the 4-year RFS rates (p = 0.103) and the 4-year OS rates (p = 0.214). By multivariate Cox regression analyses, only nodal status was identified as the independent predictors for superior RFS (hazard ratio 2.93; 95% CI, 1.07 to 5.88; p = 0.034) and none of the clinical parameters were significant predictors for 4-year overall survival. CONCLUSION: A hospital-based analysis of adjuvant Trastuzumab use in our center does not demonstrate the different treatment outcome. However there is a trend of favorable outcome in the group receiving adjuvant trastuzumab.
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Neoplasias da Mama/mortalidade , Neoplasias da Mama/terapia , Receptor ErbB-2/metabolismo , Adulto , Anticorpos Monoclonais Humanizados/uso terapêutico , Antineoplásicos/uso terapêutico , Neoplasias da Mama/patologia , Quimioterapia Adjuvante , Intervalo Livre de Doença , Feminino , Humanos , Estudos Retrospectivos , Taxa de Sobrevida , Trastuzumab , Resultado do TratamentoRESUMO
AIM: The combination of a taxane and capecitabine offers synergistic antitumor activity. This study aimed to determine the efficacy and tolerability of a paclitaxel and capecitabine combination in Thai patients with metastatic breast cancer (MBC) not previously treated for metastatic disease. METHODS: This open-label, single-center, non-comparative phase II study was conducted between December 2006 and March 2009. In all 40 MBC patients were treated with oral capecitabine 1000 mg/m(2) twice daily on days 1 to 14, and weekly paclitaxel 80 mg/m(2) in a 3-week cycle for a total of six cycles. RESULTS: After a median follow up of 13.4 months, an overall objective response rate of 80%, with a partial response of 74% and a complete response of 5% were achieved. While 8% of patients achieved stable disease, 13% had progressive disease. Median time to progress was 8 months and median overall survival was 24.4 months. One patient discontinued because of hypersensitivity to paclitaxel. There was no grade 4 toxicity. Skin and nail toxicity was found in 75% of patients (with 25% in grade 2 or 3), followed by neutropenia (45% in all with 15% in grades 2 or 3), neuropathy (25% in total with 5% in grade 2) and stomatitis and diarrhea (in both of which 5% experienced grade 1 severity). CONCLUSION: A first-line regimen of weekly paclitaxel plus capecitabine is effective and tolerable in Thai MBC patients.