Vicente Furió

Cutaneous adult myofibroma: a vascular neoplasm

Infantile myofibromatosis is a distinctive type of fibromatosis that usually develops during the immediate perinatal period. There are variants with solitary and multiple tumors. Lesions confined to the skin, soft tissue, and bone carry a good prognosis, showing spontaneous regression. The prognosis, however, is much less favorable when visceral lesions are present and the outcome may be fatal. Only recently it became obvious that there is an adult counterpart of infantile myofibromatosis, characterized by solitary lesions that have a predilection for involve the dermis and show no tendency to regression, although they have an entirely benign biological behavior. These lesions have been named cutaneous myofibroma or solitary myofibroma of adults.

Clear-cell atypical fibroxanthoma: an uncommon histopathologic variant of atypical fibroxanthoma

Atypical fibroxanthoma is a superficial variant of pleomorphic malignant fibrous histiocytoma. Histopathologically, it is characterized by a dermal nodule composed of bizarre cells arranged in a haphazard‐to‐fascicular pattern. These cells are spindle or rounded, pleomorphic and with numerous atypical mitotic figures. Some cells appear polygonal with ample and foamy cytoplasm. We recently encountered two elderly patients with atypical fibroxanthoma on their face. Histopathologically, one of the lesions was composed, almost entirely, of clear cells, whereas in the other one aggregations of clear cells constituted a half of the neoplasm. Atypical multinucleated cells with a Touton‐like appearance were present. In addition to clear cells, areas of more conventional atypical spindle cells arranged in fascicles were seen, supporting the diagnosis of atypical fibroxanthoma. PAS staining failed to demonstrate glycogen in neoplastic cells. Immunohistochemistry revealed that neoplastic cells expressed positivity for vimentin, muscle‐specific actin, and alpha smooth muscle actin, whereas cytokeratin, S‐100 protein, EMA, CEA, and clesmin were negative. Ultrastructural studies showed that neoplastic cells contained abundant rough endoplasmic reticulum, mitochondria, and numerous lipid vacuoles within the cytoplasm. Clear‐cell atypical fibroxanthoma is a rare variant of atypical fibroxanthoma that should be differentiated from other clear‐cell neoplasms of the skin.

Ultrasonographic autopsy (echopsy): a new autopsy technique.

Abstract. Autopsy has been one of the most important techniques for the development of modern medicine, mainly during the nineteenth century and the first half of last century. However, in the last few years, the number of autopsies performed in hospitals has dramatically decreased all over the world. This loss of interest can be attributed both to important advances in other diagnostic and therapeutic techniques and to the fear of malpractice suits. Several groups have tried to overcome this problem, developing different autopsy techniques, one of which is needle autopsy. Most authors using this technique have acknowledged that it is difficult to obtain material from certain organs and lesions, which makes its diagnostic reliability worse than that of conventional autopsy. To overcome this drawback, our team has recently developed a modification of needle autopsy, called ultrasonographic autopsy or echopsy, in which samples are obtained under ultrasonographic control. We report the results of the first 100 cases of echopsy performed in our hospital, comparing this technique with conventional autopsy performed on all the corpses. The concordance rate for the cause of death and the main pathological diagnosis between echopsy and classical autopsy was 83% in our series, which makes echopsy a feasible and reliable alternative to conventional autopsy in cases in which families refuse to give their consent for classical autopsy or in cases of infectious diseases.

Agminated Blue Nevi: Case Report and Review of the Literature

Blue nevi may rarely appear in multiple form and grouped in a circumscribed area, a pattern of arrangement that is more properly designed under the term agminated blue nevi. In this paper a new case with light and ultrastructural studies is described, and the previously reported cases are reviewed. Histologically, there was a characteristic perifollicular arrangement of dermal melanocytes, most of which showed ultrastructurally an extracellular sheath. Agminated blue nevi seem to be benign lesions, but because of their rarity, no definite prognosis can be given.

Clear-Cell Syringoma

Clear-cell syringoma is a histologic variant of syringoma that is otherwise clinically indistinguishable from ordinary syringoma. This variant is formed by cells that have pale or clear cytoplasm as a

Glutathione S-transferase P1 c.313A > G polymorphism could be useful in the prediction of doxorubicin response in breast cancer patients

BACKGROUND Identification of predicting factors for anthracyclines-based chemotherapy remains a clinical challenge. Glutathione S-transferase (GSTs) enzymes detoxify chemotherapy drugs and their metabolites. Several polymorphisms in GST genes result in reduced or no activity of the enzymes. Specifically, GSTM1 and GSTT1 genes are polymorphically deleted, the polymorphism GSTP1 c.313A>G (rs1695) determines the amino acid substitution Ile105Val, where the Val-containing enzyme has reduced activity. Also, GSTA1*B allele has reduced levels of GSTA1 enzyme. Several polymorphisms in GSTs have been associated with differences in survival for cancer patients treated with chemotherapy. PATIENTS AND METHODS We genotyped a total of five polymorphisms in GSTM1, GSTT1, GSTP1 and GSTA1 genes in 159 patients with locally advanced breast cancer, treated with single-agent doxorubicin or docetaxel (Taxotere). Gene expression microarrays were performed in 67 breast tumor samples. We correlate this data with treatment outcome. RESULTS In multivariate analysis, patients homozygous GG for GSTP1 c.313A>G SNP had a lower risk of chemoresistance when treated with doxorubicin (odds ratio 0.106; confidence interval 0.012-0.898; P=0.040). No association was found in the docetaxel arm. Also, we found that GSTP1 expression varied significantly among breast cancer molecular subtypes. CONCLUSIONS GSTP1 may constitute another tool contributing to individualized anthracycline-based therapy.

Correlation between response to neoadjuvant chemotherapy and survival in locally advanced breast cancer patients

BACKGROUND Measurement of residual disease following neoadjuvant chemotherapy that accurately predicts long-term survival in locally advanced breast cancer (LABC) is an essential requirement for clinical trials development. Several methods to assess tumor response have been described. However, the agreement between methods and correlation with survival in independent cohorts has not been reported. PATIENTS AND METHODS We report survival and tumor response according to the measurement of residual breast cancer burden (RCB), the Miller and Payne classification and the Response Evaluation Criteria in Solid Tumors (RECIST) criteria, in 151 LABC patients. Kappa Cohens coefficient (К) was used to test the agreement between methods. We assessed the correlation between the treatment outcome and overall survival (OS) and relapse-free survival (RFS) by calculating Harrells C-statistic (c). RESULTS The agreement between Miller and Payne classification and RCB classes was very high (К = 0.82). In contrast, we found a moderate-to-fair agreement between the Miller and Payne classification and RECIST criteria (К = 0.52) and RCB classes and RECIST criteria (К = 0.38). The adjusted C-statistic to predict OS for RCB index (0.77) and RCB classes (0.75) was superior to that of RECIST criteria (0.69) (P = 0.007 and P = 0.035, respectively). Also, RCB index (c = 0.71), RCB classes (c = 0.71) and Miller and Payne classification (c = 0.67) predicted better RFS than RECIST criteria (c = 0.61) (P = 0.005, P = 0.006 and P = 0.028, respectively). CONCLUSIONS The pathological assessment of tumor response might provide stronger prognostic information in LABC patients.

The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families.

The frame-shift mutation 1100delC in the cell-cycle-checkpoint kinase 2 gene (CHEK2) has been reported to be a low penetrance breast cancer gene in Northern European populations. However, the variant may be relevant for breast cancer risk in other populations, due to its low prevalence. Recent studies have proposed a role for the mutation in colorectal cancer, finding a strong association between the CHEK21100delC mutation and hereditary breast and colorectal cancer (HBCC). A previous study suggested that the CHEK21100delC variant was not of clinical relevance in Spanish breast/ovarian cancer families. Here, we demonstrate that this genetic variant is not of clinical relevance for HNPCC and HBCC Spanish families.

Acrolocalized acquired cutis laxa

Summary A 55‐year‐old man presented with a 14‐year history of loose, redundant skin on the palmar aspects of the finger tips and toe pulps. which gave a peculiar ‘chewing gum’ appearance. Skin biopsies of involved areas showed a normal appearance, and only a discrete decrease in the elastic fibres could be identified with an elastic tissue stain. Ultrastructural examination, however, demonstrated marked fragmentation and degeneration of the elastic tissue. Localized cutis laxa in an acral distribution, was fully developed at presentation. He gave a history of repeated episodes of swelling and urticaria of the involved areas, which we regard as being the initial inflammatory stages of this disease process.

Lethal cardiac toxicity after cisplatin and 5-fluorouracil chemotherapy. Report of a case with necropsy study.

This article presents a patient affected with epidermoid carcinoma of the soft palate who developed a dilated myocardiopathy with aortic embolism and fatal left cardiac failure after treatment with cisplatin (100 mg/m2, day 1) and 5-fluorouracil (1 g/m2/day i.v. days 2–6). The postmortem necropsy study showed diffuse interstitial edema and intracytoplasmic vacuolization of myocytes, without inflammatory changes. These findings were interpreted as acute toxic myocardiopathy, probably due to 5-fluorouracil treatment. Although the patient also received cisplatin, metoclopramide, allopurinol, thiethylperazine, and amitriptyline, before the onset of clinical symptoms, these drags were not considered to play an important role in the production of this cardiopathy because of the dosage, necropsy findings, and lack of previous report.