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Biomedical subjects

Susana Puig

Publications and source records attributed to Susana Puig.

At least 37 records · Page 2Linked to original sources

[Temozolomide in patients with melanoma brain metastases treated with whole brain irradiation].

BACKGROUND AND OBJECTIVE: Whole brain irradiation (WBRT) remains a recommended treatment for patients with brain metastases from malignant melanoma. Temozolomide (TMZ) displays efficacy for the treatment of metastatic melanoma. Our objective was to evaluate the potential benefit of TMZ administered along with WBRT. PATIENTS AND METHOD: We have conducted a retrospective study in a group of 26 patients comparing WBRT (n = 10) (20 Gy/5 fr) with WBRT+TMZ (n = 16) administered as a single chemotherapeutic agent (200 mg/m2) or in combination with chemoimmunotherapy (150 mg/m2). RESULTS: The median survival of the total group (n = 26) was 3 months (CI 95%, 2-4 months). The median survival of the WBRT+TMZ group was 6 months (CI 95%, 0-12 months), while the median survival of the WBRT group was 1 month (CI 95%, 1-2 months) (p < 0.0001). The analysis of survival at different time intervals (90, 180 and 270 days) showed a clear benefit for the group treated with WBRT + TMZ (p = 0.016). CONCLUSIONS: These results suggests a benefit of TMZ added to WBRT in terms of long-term survival for patients with melanoma brain metastases.

Adult↗

Is the identification of in-transit sentinel lymph nodes in malignant melanoma patients really necessary?

The sentinel lymph node (SLN) is the first node in a nodal basin to receive the direct lymphatic flow from a malignant melanoma. However, in some patients, lymphoscintigraphic study reveals the presence of lymphatic nodes in the area between the primary melanoma and the regional basin. These nodes are called "in-transit nodes" or "interval nodes" and, by definition, are also SLNs. The purpose of this study was to determine the incidence and location of in-transit SLNs in patients with malignant melanoma and to assess whether it is really necessary to harvest them. The evaluation involved 600 consecutive malignant melanoma patients. Lymphoscintigraphy was performed on the day before surgery following intradermal injection of 74-111 MBq of (99m)Tc-nanocolloid in four doses around the primary melanoma or the biopsy scar. Dynamic and static images were obtained and revealed SLNs in 599 out of 600 patients. The SLN was intraoperatively identified with the aid of patent blue dye and a hand-held gamma probe. Lymphoscintigraphy showed in-transit SLNs in 59/599 patients (9.8%). During surgery, all these in-transit SLNs were harvested, with those in the popliteal and epitrochlear regions being the most difficult to identify and excise. Metastatic cell deposits were subsequently identified in ten (16.9%) of these in-transit SLNs. In conclusion, lymphoscintigraphy has a key role in the identification of in-transit SLNs. Although the incidence of these nodes is relatively low in malignant melanoma patients, such SLNs present metastatic deposits in a significant percentage of cases and therefore the identification of in-transit SLNs in these patients is really necessary.

Adolescent↗

Dermoscopic patterns of benign volar melanocytic lesions in patients with atypical mole syndrome.

BACKGROUND: Acral benign melanocytic lesions in white populations, particularly in subjects with atypical mole syndrome, have been poorly characterized until recently. The advent of dermoscopy has enabled more specific diagnoses of these pigmented skin lesions. OBJECTIVE: To evaluate the clinical and dermoscopic features of benign volar lesions in a group of white patients with atypical mole syndrome. SETTING: A private medical center specializing in early diagnosis of malignant melanoma and a melanoma unit in a university hospital. METHODS: Acral melanocytic lesions in 511 patients with atypical mole syndrome were studied using standard clinical assessment and dermoscopy. RESULTS: Two hundred ten acral melanocytic lesions were observed in 156 of the patients: 165 lesions were present on the soles of 121 patients and 45 lesions on the palms of 35 patients. No acral malignant lesions were detected. We observed the following patterns of lesions: parallel furrow in 111 lesions (52.9%), latticelike in 26 lesions (12.4%), fibrillar or filamentous in 13 lesions (6.2%), and nontypical in 29 lesions (13.8%). In 31 lesions (14.8%), we observed 3 previously undefined patterns: a globular pattern in 11 lesions (5.2%), a homogeneous pattern in 15 lesions (7.1%), and an acral reticular pattern in 5 lesions (2.4%). CONCLUSIONS: We observed a greater number of benign melanocytic lesions in glabrous skin than expected, probably related to our cohort selection of patients with atypical mole syndrome, although the lesions generally exhibited patterns on dermoscopy similar to those seen in Japanese studies. We defined 3 new benign dermoscopic patterns, which will enable better characterization of acral lesions.

Adolescent↗

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.

BACKGROUND: Cutis laxa is an extremely rare disorder characterized by marked skin laxity. Few cases of cutis laxa have been described worldwide. Clinical presentation and mode of inheritance show considerable heterogeneity; autosomal dominant, autosomal recessive, and X-linked recessive forms have been reported. Only 3 mutations in the elastin gene have been described as the genetic cause of the autosomal dominant form of cutis laxa. OBSERVATIONS: A 45-year-old woman and her 19-year-old son presented with inelastic, loose-hanging, and wrinkled skin that appeared prematurely aged and were clinically diagnosed as having cutis laxa. Mutational analysis of the elastin gene evidenced a novel mutation (2292delC) that predicts a frameshift in the coding region and causes translation to proceed into the 3'-untranslated region. This would replace the C-terminal amino acid of the normal elastin protein with a novel sequence. CONCLUSION: This article is the fourth report of autosomal dominant cutis laxa to appear in the literature in which a mutation in the elastin gene has been correlated with the disease.

Adult↗

Intramedullary spinal cord metastases of melanoma.

Intramedullary spinal cord metastases (ISCMs) are extremely rare. An exact diagnosis may be difficult even when the primary tumour is known. Patients usually present with back pain and signs and symptoms of spinal cord compression, such as hemiparesis or hemisensory impairments. Magnetic resonance imaging (MRI) is considered to be the main diagnostic tool for intramedullary lesions as it is very sensitive, but non-specific, in distinguishing between ISCMs and primary cord tumours. Optimal treatment in patients with ISCMs remains controversial. We report a case of ISCMs of melanoma, with a review of the clinical and radiological characteristics of these medullary lesions and their prognosis, as well as the different therapeutic approaches.

Brain Neoplasms↗

Small cell melanoma and ulceration as predictors of positive sentinel lymph node in malignant melanoma patients.

Malignant melanoma (MM) early lymph node (LN) metastasis usually appears first in the sentinel LN (SLN). Breslow thickness is the main factor considered in the selection of patients to be submitted to SLN biopsy. The present study aimed to describe other independent prognostic factors useful in SLN candidate selection. During one year, 94 MM patients (90 primary cutaneous MM with Breslow thickness > or = 0.76 mm, and four cutaneous relapses), were submitted to SLN biopsy in the Melanoma Unit at the Hospital Clinic, Barcelona, Spain. The prognostic factors studied were: Breslow thickness, Clark's level of invasion, mitotic rate, cellular type (small, epithelioid, fusocellular, sarcomatoid), vertical growth phase, regression > 50%, severe vascularization, infiltrate (lymphocytic, plasmocytic), ulceration, neurotropism, intravascular/intraneural invasion, protein p16 expression and recurrence. Nineteen SLN (20.2%) were positive and 75 (79.8%) negative. No positive SLN occurred in MM with Breslow thickness < or = 1.0 mm. Breslow thickness > or = 2 mm (P = 0.005), severe vascularization (P = 0.005), small cell (P = 0.000) and ulceration (P = 0.005) were significant prognostic factors by univariate analysis. Small cell (P = 0.008) and ulceration (P = 0.05) were also significant prognostic factors in a multivariate analysis. The probability of finding a positive SLN for small cell was 56.9% [95% confidence interval (CI), 26.8-82.6%]. The probability of positive SLN for ulceration was 35.5% (95% CI, 14.2-64.7%). For small cell and ulceration together the probability increased to 86.3% (95% CI, 54.3-97.1%). The results of this study corroborated ulceration as a prognostic factor for SLN candidate selection and for the first time we have described small cell melanoma morphology as a significant factor associated with positive SLN.

Humans↗

Treatment of patients with progressive unresectable metastatic melanoma with a heterologous polyvalent melanoma whole cell vaccine.

Unresectable metastatic melanoma has no elective treatment. Neither chemotherapy, intravenous IL-2 nor biochemotherapy clearly improves the overall survival. Recent assays with therapeutic vaccines have been recently yielded promising results. Here, we describe the application, clinical tolerance and antitumoural activity of a heterologous polyvalent melanoma whole cell vaccine in patients with metastatic melanoma. Twenty-eight AJCC stage III/IV melanoma patients with progressive unresectable metastatic disease were treated with our heterologous polyvalent melanoma whole cell vaccine between July 1, 1998 and July 1, 2002. All patients had already been unsuccessfully treated with high doses of IFN-alpha2 and/or polychemotherapy and/or biochemotherapy and/or perfusion of extremities, or could not receive other treatments due to their age or underlying illness. Twenty-three were assessable. The vaccine was constituted by 10 melanoma cell lines, derived from primary, lymph node and metastatic melanomas. Prior to intradermal inoculation, the cells were irradiated and mixed with BCG, and 50% were treated with DNFB. After a median follow-up of 19 months, 26% of patients responded: 3 CR (18, 16+, and 26+ months), 2 PR (8 and 22 months) and 1 MR (36+ months). The median survival of the whole group was 20.2 months. None of the 28 patients initially included in the study presented significant toxicity. This vaccination program had specific antitumoural activity in advanced metastatic melanoma patients and was well tolerated. The clinical responses and the median survival of our group of patients, together with the low toxicity of our polyvalent vaccine, suggest that this approach could be applied to earlier metastatic melanoma patients.

Adult↗

Dermoscopy of pigmented skin lesions: results of a consensus meeting via the Internet.

BACKGROUND: There is a need for better standardization of the dermoscopic terminology in assessing pigmented skin lesions. OBJECTIVE: The virtual Consensus Net Meeting on Dermoscopy was organized to investigate reproducibility and validity of the various features and diagnostic algorithms. METHODS: Dermoscopic images of 108 lesions were evaluated via the Internet by 40 experienced dermoscopists using a 2-step diagnostic procedure. The first-step algorithm distinguished melanocytic versus nonmelanocytic lesions. The second step in the diagnostic procedure used 4 algorithms (pattern analysis, ABCD rule, Menzies method, and 7-point checklist) to distinguish melanoma versus benign melanocytic lesions. kappa Values, log odds ratios, sensitivity, specificity, and positive likelihood ratios were estimated for all diagnostic algorithms and dermoscopic features. RESULTS: Interobserver agreement was fair to good for all diagnostic methods, but it was poor for the majority of dermoscopic criteria. Intraobserver agreement was good to excellent for all algorithms and features considered. Pattern analysis allowed the best diagnostic performance (positive likelihood ratio: 5.1), whereas alternative algorithms revealed comparable sensitivity but less specificity. Interobserver agreement on management decisions made by dermoscopy was fairly good (mean kappa value: 0.53). CONCLUSION: The virtual Consensus Net Meeting on Dermoscopy represents a valid tool for better standardization of the dermoscopic terminology and, moreover, opens up a new territory for diagnosing and managing pigmented skin lesions.

Algorithms↗

Identification of the sentinel lymph node in patients with malignant melanoma: what are the reasons for mistakes?

Scintigraphic identification of the sentinel lymph node is achievable in nearly all patients with malignant melanoma. However, in a very small number of cases the sentinel node fails to be detected, and sometimes recurrence appears during follow-up in patients who had previously tested negative for metastatic disease. The purpose of this study was to review our experience in order to isolate the reasons for erroneous sentinel lymph node identification. The evaluation involved 435 consecutive malignant melanoma patients with AJCC stages I and II (clinically negative nodes) and Breslow thickness >0.76 mm. Lymphoscintigraphy was performed the day before surgery by intradermal administration of technetium-99m labelled nanocolloid. Dynamic and static images were obtained. The sentinel node was intraoperatively identified with the aid of patent blue dye and a hand-held gamma probe. After removal, routine histopathological examination with haematoxylin-eosin (H-E) and immunohistochemistry with S 100 and HMB45 (IHC) were performed. In those patients who developed regional recurrences during follow-up, sentinel nodes were further evaluated by reverse transcriptase-polymerase chain reaction (RT-PCR). Lymphoscintigraphy visualised at least one sentinel node in 434 out of 435 patients (99.8%). Uptake in in-transit sentinel lymph nodes was observed in 32 patients (7.4%). During surgery, localisation and removal of sentinel nodes was successful in 430/435 patients (98.8%). A total of 790 sentinel lymph nodes were harvested, with a mean of 1.8 per patient. Routine histopathological examination with H-E or IHC revealed metastatic disease in 72 patients (16.8%). During a mean follow-up of 26 months, seven of those patients with a negative sentinel node developed regional lymph node metastases. In five of them RT-PCR was positive for micrometastases within the sentinel node. In conclusion, erroneous sentinel lymph node identification can be due to changes in the surgical team, difficult lymph node location or absence of a thorough histological study. Nevertheless, it is not possible to explain completely why, in a very small percentage of cases, the sentinel node is erroneously identified.

Adolescent↗