Cowden syndrome is a risk factor for multiple neoplasm: a case report.

BACKGROUND: Cowden's syndrome is an autosomal dominant disease with variable penetrance, involving the tumor suppressor phosphatase and tension homolog gene, located on chromosome 10q22-23, responsible for cell proliferation, migration, and cellular apoptosis. Its clinical presentation encompasses mucocutaneous lesions, which are present around 99% of the time; macrocephaly; and cognitive impairment, and it precedes the appearance of neoplasms such as thyroid carcinoma, breast cancer, among others. In addition to these malformations, arteriovenous malformations of the brain and spine, endocrine abnormalities, skeletal defects, and cardiopulmonary lesions may also be found. The relevance of the case is due to the fact that, through a certain phenotype, the patient's genotype can be inferred and thus followed up closely. CASE REPRESENTATION: The clinical case concerns a 28-year-old Caucasian and Portuguese woman with palmar pits, macrocephaly, and cognitive impairment. She was diagnosed with papillary thyroid carcinoma at 22 years of age and proposed total thyroidectomy. At age 27, a pregnancy was diagnosed with a Breast Imaging-Reporting and Data System 2-rated breast lump. After the histological verification, it was concluded that it was a high metastatic breast sarcoma, opting for palliative mastectomy. A genetic evaluation confirmed alteration in the phosphatase and tension homolog gene, confirming Cowden's syndrome. The patient died at age 29 due to neoplastic pathology. CONCLUSION: This report aims to alert to the clinical signs of this entity and the clinical supervision and follow-up of these patients. In order to prevent premature deaths and to improve patient's quality of life, genetic diseases with cancer impact should be diagnosed as early as possible.

Breast cancer patient-reported outcomes on level 1 and level 2 oncoplastic procedures using BREAST-Q®.

PURPOSE: In breast cancer management not only mortality and surgical morbidity measurements are important but also patient satisfaction indexes. The authors evaluated the satisfaction and health-related quality of life (HRQOL) using the breast-conserving therapy (BCT) and breast reduction (BR) modules of BREAST-Q®. METHODS: This is a cross-sectional study that analyzed breast cancer patients consecutively submitted to breast surgery between January 2011 and April 2018 using two modules of BREAST-Q®. 968 patients were contacted and 232 answers were gathered: 171 patients submitted to oncoplastic level 1 surgery answered the BCT module and 61 submitted to oncoplastic level 2 surgery answered the BR module. Clinical data were retrieved from patients' medical records. RESULTS: Among the 232 questionnaires received, the median scores for psychosocial well-being, sexual well-being and (postoperative) satisfaction with breasts for BCT and BR modules were, respectively, 77.0 and 73.5 (p = 0.17); 62.0 and 53.0 (p = 0.14); 72.0 and 66.0 (p = 0.66). The median of adverse effects of radiation in the BCT module was 87.0. The median satisfaction with outcome in the BR module was 86.0. Both groups of patients revealed high scores of satisfaction with care. For the BCT patients, satisfaction with breasts strongly correlated with sexual well-being and was moderately correlated with psychosocial and physical well-being. For the BR patients, the satisfaction with outcome strongly correlated with satisfaction with medical team and moderately correlated with the remaining scales. CONCLUSION: Both oncoplastic surgery levels yielded similar satisfaction outcomes when assessed using BCT and BR modules of BREAST-Q®.

Initial experience with targeted axillary dissection after neoadjuvant therapy in breast cancer patients.

BACKGROUND: Targeted axillary dissection (TAD) combines sentinel node biopsy (SNB) with the removal of the previously marked metastatic node. TAD is a promising concept for axillary restaging in node-positive breast cancer patients with pathological complete response (pCR) to neoadjuvant therapy (NAT). We aimed to evaluate TAD feasibility in this context. METHODS: A prospective observational study was conducted in biopsy-confirmed cN1 patients. The removal of the clipped node (CN) was guided by intraoperative ultrasound. SNB used indocyanine green and patent blue V dye. If the CN or sentinel lymph nodes (SLN) had any metastatic foci, or the TAD procedure was unsuccessful, the patient underwent axillary lymph node dissection (ALND). RESULTS: Thirty-seven patients were included. TAD and SNB identification rates were 97.3%. Every retrieved CN was also a SLN. At the individual level, SNB identification rate was 89.2% with indocyanine green and 85.5% with patent blue V dye. The CN identification rate was 81.1%, being higher when the CN was localized on the intraoperative ultrasound (84.4% vs 60.0%). Nodal pCR was achieved by 54.1% of our patients and was more frequent in HER2-positive and triple-negative tumors (p = 0.039). Nineteen patients were spared from ALND. CONCLUSION: TAD with intraoperative ultrasound-guided excision of the CN and SNB with indocyanine green and patent blue V dye is a feasible concept to identify patients without axillary residual disease after NAT, that can be spared from ALND, although the need for marking the biopsied node should be further investigated.

Predictive factors for non-sentinel lymph node involvement in breast cancer patients with a positive sentinel node: should we consider sentinel node-related factors?

INTRODUCTION: Sentinel node (SN) biopsy to predict axillary involvement in breast cancer patients is a common practice. After a positive SN, additional metastases are present in an unpredictable percentage, as variable as 13-66%, of axillary clearances. Our aim is to define variables associated with non-sentinel node (NSN) metastases and to determine the predictive value of a derived clinical decision rule. METHODS: A consecutive series of patients with a positive SN submitted to SN biopsy plus axillary dissection was evaluated from June 1999 to December 2004 (n=143). Patient-, tumour- and SN-related variables were analysed in relation to the presence of additional metastasis. Univariate and multivariate analyses were done and predictive values of a clinical decision rule based on significant variables were estimated. RESULTS: A total of 66 patients had metastasis in non-sentinel axillary nodes. No significant differences were present between this group and those with only the SN metastasised. Significant and independent association was found between NSN positivity and increasing tumour size, the presence of multifocality and the presence of peritumoral lymph channel invasion. CONCLUSIONS: A first derivation of a simple rule based on tumour-related variables concurs to define the presence of NSN metastasis. Care should be taken when including SNrelated variables in these algorithms.

Satisfaction with a therapeutic sleeve for arm lymphedema secondary to breast cancer treatment: Controlled crossover trial.

HIGHLIGHTS: Secondary lymphedema is a late iatrogenic side effect of breast cancer treatment.Despite multimodal decongestive therapy in their daily life breast cancer survivors with lymphedema have few alternatives but to use a compressive sleeve.Concerned with the well-known low compliance to the daily use of traditional sleeves, we conducted a comparative study to evaluate the subjective assessment of an innovative class 1 compression sleeve.We concluded that the PRADEX® sleeve, not being worse in its compressive efficacy, is much better with regard to patient comfort. ABSTRACT: Secondary arm lymphedema is a feared late iatrogenic side effect of breast cancer survivors with a negative impact on patient's self-image and quality of life. Its reported incidence is extremely variable, from 6% to 80%, as well as the effectiveness of the multimodal decongestive lymphedema therapy.In their daily life breast cancer survivors with lymphedema have few alternatives but to use a compressive sleeve. Concerned with the well-known low compliance to the daily use of traditional sleeves, we conducted a comparative study in a subgroup of our patients with lymphedema secondary to breast cancer treatment for the subjective assessment of PRADEX®, an innovative class 1 compression sleeve. Secondarily, we aimed to assess the non-inferiority of PRADEX® regarding subjective and objective measures of the severity of lymphedema.We studied 46 women with grade 1 secondary arm lymphedema, who used their usual sleeve and PRADEX® daily for 2 weeks each, in a crossover design.The new therapeutic sleeve was classified as having a better design and a better usability and comfort (more comfortable, thinner, fresher, softer, more flexible, comfortable, resistant to dirt and easier to dress and to wear). Women's subjective opinion about the severity of lymphedema favored their usual sleeve in detriment of PRADEX®, but this subjective feeling was contradicted by objective measurements of different perimeters of the arm at the beginning and at the end of the study.We concluded that the PRADEX® sleeve, not being worse in its compressive therapeutic efficacy, is much better with regard to patient comfort.

A comparative study between two central veins for the introduction of totally implantable venous access devices in 1201 cancer patients.

INTRODUCTION AND AIMS: The Subclavian vein has been traditionally the vein of choice for central venous catheterization by general surgeons. Alternative settings for the introduction of totally implantable venous access devices (TIVAD) and the search for lower rates of morbidity led to the choice of other central veins. This study compares two different venous accesses, the subclavian (SC) versus the internal jugular (IJ), in terms of early and late morbidity. PATIENTS AND METHODS: This is a prospective, non-randomized, observational, uni-institutional (tertiary cancer centre) study. From March 2003 to March 2006, 1231 TIVADs were placed (1201 patients), in an ambulatory operating room, under vital signs and EKG monitoring, using local anaesthesia and without perioperative radiological control. RESULTS: Of the 1231 TIVAD, 617 were inserted via the SC and 614 via the IJ vein. The two groups (SC vs. IJ) were comparable as to general patient characteristics. Immediate complications were more frequent in the SC than in the IJ approach (respectively, 5.0% vs. 1.5%; p<0.001); Catheter malposition occurred in 2.3% when using the SC vein and in 0.2% for the IJ (p=0.001). Long term morbidity was also more frequent in the SC than in the IJ group (respectively, 15.8%, 87/551, vs. 7.6%, 39/512; p<0.001). Venous thrombosis developed in 2.0% of patients with an SC TIVAD as compared to 0.6% with an IJ TIVAD (p=0.044). Catheter malfunction was significantly dependent on the vein used: SC - 9.4% vs. IJ - 4.3% (p=0.001). CONCLUSIONS: Our results support the preferential use of the Internal Jugular vein for the insertion of TIVAD.

Predictive factors for non-sentinel lymph node involvement in breast cancer patients with a positive sentinel node: should we consider sentinel node-related factors?

INTRODUCTION: Sentinel node (SN) biopsy to predict axillary involvement in breast cancer patients is a common practice. After a positive SN, additional metastases are present in an unpredictable percentage, as variable as 13-66%, of axillary clearances. Our aim is to define variables associated with non-sentinel node (NSN) metastases and to determine the predictive value of a derived clinical decision rule. METHODS: A consecutive series of patients with a positive SN submitted to SN biopsy plus axillary dissection was evaluated from June 1999 to December 2004 (n=143). Patient-, tumour- and SN-related variables were analysed in relation to the presence of additional metastasis. Univariate and multivariate analyses were done and predictive values of a clinical decision rule based on significant variables were estimated. RESULTS: A total of 66 patients had metastasis in non-sentinel axillary nodes. No significant differences were present between this group and those with only the SN metastasised. Significant and independent association was found between NSN positivity and increasing tumour size, the presence of multifocality and the presence of peritumoral lymph channel invasion. CONCLUSIONS: A first derivation of a simple rule based on tumour-related variables concurs to define the presence of NSN metastasis. Care should be taken when including SNrelated variables in these algorithms (AU)

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