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Biomedical subjects

J Fernando Val-Bernal

Publications and source records attributed to J Fernando Val-Bernal.

At least 19 recordsLinked to original sources
PubMed2006

Ectopic epididymal tissue in appendix testis.

Aberrant epididymal tissue is uncommon and may be associated with an undescended testis. To the best of our knowledge, aberrant epididymal tissue has not been described in a testicular appendix. We report the case of a 7-year-old boy with left cryptorchidism who underwent a homolateral orchidopexy. At operation, the surgeon removed a pedunculated appendix testis containing an epididymal heterotopia. This Wolffian-derivative tissue was confirmed by the diffuse strong CD10 reactivity of the luminal border of the epithelial cells. Awareness of this aberrant tissue avoids misinterpretation as a transected functional reproductive structure.

Biomarkers↗
PubMed2006

Incidental in vivo detection of an isolated hemangioma of the aortic valve in a man with a history of renal transplantation.

Hemangiomas of the cardiac valves are exceptional. To our knowledge, only ten cases of valve hemangiomas, six in the mitral and four in the tricuspid valve, have been reported in the English literature. We describe an incidentally detected aortic valve hemangioma of a 62-year-old man with chronic, degenerative aortic valve stenosis, who underwent renal transplantation 7 years before. We believe that this is the first report of a hemangioma in this localization and the first one in association with solid organ transplantation. The review of the literature of the adult cases of valve hemangioma, including this report, revealed that the average age was 47.2 years (range, 24 to 68 years). No clear sex predominance has been noted. Patients can be asymptomatic or experience sudden death. Symptomatic patients have complaints of palpitations, dyspnea, or syncopal episodes. Histologically, these valve tumors are classified as capillary, cavernous, and mixed. Mean tumor size is 1.1 cm (range, 0.6 to 2 cm). In 50% of cases the hemangioma is an incidental finding at autopsy or in a removed valve. Valve aortic hemangioma, despite its rarity, should be considered in the differential diagnosis of vascular lesions of this cardiac valve.

Aortic Valve↗
PubMed2006

Isolated (localized) idiopathic granulomatous (giant cell) vasculitis in an intramuscular lipoma.

Isolated (localized) idiopathic granulomatous vasculitis (IGV) is an uncommon, heterogeneous, and poorly defined group of disorders characterized by infiltration of the arterial wall caused by compactly grouped mononuclear phagocytes, with or without giant cells, in segmental distribution. We report on a 55-year-old woman with IGV limited to an intramuscular lipoma of the left thigh. The vasculitis was identified incidentally upon microscopic examination of the removed tumor. The IGV was centered on two medium-sized arteries, accompanied by narrowing of the lumens, and not associated with secondary changes such as infart or postinfart fibrosis. The inflammatory infiltrate was rich in T-lymphocytes and macrophages, with the presence of giant cells. The patient was asymptomatic and well in a follow-up period of 2 months, during which she was not treated. To our knowledge, this is the first report of lipoma involvement in localized IGV. It is important to distinguish cases of isolated intratumorous IGV from systemic disease, because the latter implies a poor prognosis and requires an aggressive treatment.

Antigens, CD↗
PubMed2006

Pneumopolycystic endometritis.

Emphysematous inflammations of the abdomen and pelvis are uncommon and potentially life-threatening conditions that require aggressive treatment. Pneumopolycystic endometritis is a rare benign condition of which only 1 case has been described. This report describes the sonographic and histologic appearance of pneumopolycystic endometritis in a 49-year-old woman who presented with irregular menses and hypermenorrhea of 1 year's duration. The entity is characterized by gas-filled cysts in the endometrium stroma, in a pattern similar to pneumatosis of the vagina. The histologic picture is specific and should not be confused with gas gangrene involving the uterus characterized by the presence of tissue necrosis and life-threatening infection. Our patient is the first documented case that occurred spontaneously and at the same time was limited to the endometrium. Recognition of pneumopolycystic endometritis is important because this condition does not represent an aggressive life-threatening infection, and spontaneous resolution is to be expected.

Contraceptive Agents, Female↗
PubMed2006

Pure sclerotic neurofibroma: a neurofibroma mimicking sclerotic fibroma.

BACKGROUND: Neurofibroma (NF) is a benign tumor of the nerve sheath. Several variants of NF have been described. PURPOSE: We report a case of NF with sclerotic changes resembling sclerotic fibroma (SF). METHODS AND RESULTS: The patient was a 61-year-old man who had an asymptomatic cutaneous lesion on the right scapular region. Physical examination revealed a pedunculated, white-to-pinkish nodule that had a firm consistency, spherical morphology, and smooth surface. Microscopically, the nodule showed a well-circumscribed, nonencapsulated dermal tumor composed of scant cells and thick collagen bundles with prominent clefts. The tumor cells were immunoreactive for vimentin and S100 protein. The patient was diagnosed as having pure sclerotic NF. To our knowledge, only five cases of NF with SF-like pattern have been previously published, and in two this pattern was pure. CONCLUSION: It is important to recognize this exceptional type of NF because it may be easily confused with SF, as well as with a wide variety of neoplasms or hamartomatous conditions containing similar sclerotic pattern.

Biomarkers, Tumor↗
PubMed2006

Generalized morphea and primary biliary cirrhosis coexisting in a male patient.

We present further evidence that generalized morphea (GM) and primary biliary cirrhosis (PBC) may be associated. As far as we know, only six cases with this association have been previously reported in the published work, all of which were observed in women. We describe the case of a 62-year-old man diagnosed with M2-antibody-positive PBC who developed multiple generalized indurated plaques on the trunk and extremities 3 years later. Clinical history, laboratory data and histopathological examination were consistent with the diagnosis of GM. The coexistence in a male of these two entities that predominantly affect females reinforces the hypothesis that a pathogenic link exists between GM and PBC. Consequently, PBC should be looked for in all patients with GM.

Humans↗
PubMed2006

Isolated non-compaction of the left ventricular myocardium in an adult treated with heart transplantation.

Isolated left ventricular non-compaction is a rare unclassified cardiomyopathy characterized by arrest of normal embryogenesis that results in the persistence of intertrabecular recesses and the development of a spongy myocardium. The pathological diagnosis is often first established at autopsy. Described herein is the case of a 57-year-old man with isolated non-compaction of the left ventricle who had a 17 year history of worsening heart failure and was successfully treated with heart transplantation. To the authors' knowledge only seven adult patients with non-compaction cardiomyopathy have been reported to have undergone heart transplantation. Including the present case the mean age of the adult patients at transplantation was 39.5 years (range, 18-60 years). The male : female ratio was 3:1. Both ventricles were involved in 37.5% of cases. The mean follow up was 6.3 years (range, 2 months-17 years). One patient died because of a malignant tumor 9 years after transplantation. The morphological pattern of the isolated ventricular non-compaction represents a pathological entity discernible from other cardiomyopathies and should be classified as a specific cardiomyopathy. It is likely that surgical pathologists will encounter this entity more frequently due to involvement in transplantation teams.

Adult↗
PubMed2006

Lingual subgemmal neurogenous plaques with pseudoepitheliomatous hyperplasia: incidental pseudomalignant condition.

Pseudoepitheliomatous hyperplasia is a reactive proliferation of benign squamous epithelium that can mimic squamous cell carcinoma. Herein is a report on this type of reaction on two subgemmal neurogenous plaques in a lingual circumvallate papilla. To the authors' knowledge this is the first report on this combination of lesions. A 66-year-old man died with disseminated squamous cell carcinoma of the lung. At autopsy the tongue was found to have an incidental pseudoepitheliomatous hyperplasia on two subgemmal neurogenous plaques with ganglion cells. Subgemmal neurogenous plaque should be included in the differential diagnosis of causes of lingual pseudoepitheliomatous hyperplasia. Awareness of the morphological spectrum of subgemmal neurogenous plaques can avoid the overdiagnosis of these lesions as neural tumors or squamous cell carcinoma.

Aged↗
PubMed2006

Adenoid squamous cell carcinoma of the larynx: an uncommon histological variant of squamous cell carcinoma.

Adenoid squamous cell carcinoma (ASCC) or acantholytic squamous cell carcinoma is a well-recognized variant of squamous cell carcinoma. ASCC commonly occurs in the sun-exposed areas of the skin and has only rarely been observed in mucosal sites. We report a case of ASCC in the larynx of a 75-year-old man with a history of odynophagia and dysphonia of 3 months' duration that presented as an exophytic lesion on the right vocal cord. Biopsy was performed and the histological diagnosis was squamous cell carcinoma. Treatment consisted of total laryngectomy and radical neck dissection. Microscopically, the tumor showed a prominent alveolar pattern with cystic degeneration of the neoplastic epithelium and formation of pseudoglandular structures. In the lumina there were acantholytic cells. Transition areas from conventional squamous cell carcinoma to adenoid pattern were found. To the best of our knowledge this is only the third case of ASCC reported in the larynx. We reviewed the nine mucosal ASCCs of the upper aerodigestive tract reported. The assertion that these tumors are associated with an aggressive behavior and poor prognosis cannot be estimated in this review as the number of cases is small and the tumors are located in different places.

Aged↗
PubMed2006

Myeloid sarcoma of the extrahepatic bile ducts presenting as obstructive jaundice.

We report a rare case of myeloid sarcoma (MS) of the extrahepatic bile ducts presenting as obstructive jaundice in a patient without leukemia at time of diagnosis. A 75-year-old female presented with a one-month history of abdominal pain and jaundice. Computerized tomography scan of the abdomen showed stenosis of the extrahepatic bile ducts. Endoscopic retrograde cholangiography disclosed an irregular narrowing of the common biliary duct, suggestive of a cholangiocarcinoma, and resection was performed. Histologic examination showed diffuse transmural infiltration of malignant cells. These cells exhibited medium-sized round nuclei with central nucleoli and eosinophilic cytoplasm, and were strongly positive for myeloperoxidase, CD68, lysozyme, CD45, CD117 (c-kit protein) and CD43. Eight months following surgery the patient presented with multiple cutaneous nodules and bone marrow trephine biopsy showed acute myelomonocytic leukemia. A literature search identified two previously reported cases of MS of the extrahepatic biliary duct. MS should be taken into consideration in the differential diagnosis of a patient with obstructive jaundice. Immunohistochemistry is essential for a correct diagnosis.

Aged↗
PubMed2006

Posttransplant Kaposi's sarcoma restricted to the site of a previous deep venous thrombosis: abrupt onset after withdrawal of sirolimus.

Kaposi's sarcoma (KS) is an angioproliferative neoplasia associated with human herpesvirus 8 (HHV-8) infection. HHV-8 generates KS by means of the secretion of vascular endothelial growth factor (VEGF) andup-regulation of VEGF receptor, KDR, in endothelial cells. We report a case of KS in a 72-year-old male with a renal transplant who had received immunosuppressant drugs including sirolimus, mycophenolate mofetil, tacrolimus and steroids. KS developed 11 months after transplantation, in relation to deep venous thrombosis and withdrawal of sirolimus due to toxicity. Multiple purple papules and nodules were observed exclusively in the limb affected by thrombosis. Diagnosis of KS was confirmed by biopsy. Progressive withdrawal of prednisone was accompanied by full remission of the tumour. The thrombosis and withdrawal of sirolimus may have acted as cofactors in the development of KS, favouring the activation of the VEGF/KDR autocrine loop. Our experience contributes to further evidence that sirolimus may protect against KS.

Aged↗
PubMed2005

The PML-nuclear inclusion of human supraoptic neurons: a new compartment with SUMO-1- and ubiquitin-proteasome-associated domains.

It is well known that the cell nucleus is organized in structural and functional compartments involved in transcription, RNA processing and protein modifications such as conjugation with SUMO-1 and proteolysis. Promyelocytic leukaemia (PML) bodies are dynamic nuclear structures that concentrate PML protein, SUMO-1 and several sumoylated and non-sumoylated protein regulators of nuclear functions. PML bodies and their associated CBP has been involved in neuronal survival. By light and electron microscopy immunocytochemistry and in situ hybridization we reported the presence, in non-pathological conditions, of a large PML-nuclear inclusion (PML-NI) in human supraoptic neurons. This inclusion appears as a single nuclear structure composed of a capsule enriched in PML, SUMO-1 and CBP proteins and a central lattice of filaments immunoreactive for class III beta-tubulin, ubiquitinated proteins and proteasomes. Furthermore, the PML-NI concentrates the SUMO-conjugating enzyme E2 (UBC9). The PML-NI may be considered a nuclear factory involved in sumoylation and proteolysis via ubiquitin-proteasome system, two nuclear pathways engaged in the control of the nucleoplasmic concentration of active transcriptional regulators. Interestingly, the structural and molecular organization of the PML-NI is related to the Marinesco bodies, age-associated ubiquitinated intranuclear inclusions, and to the intranuclear rodlets enriched in class III beta-tubulin, which are nuclear structures markedly decreased in Alzheimer's disease.

Adolescent↗
PubMed2005

Fibroblast growth factor receptor 3 is overexpressed in urinary tract carcinomas and modulates the neoplastic cell growth.

PURPOSE: Fibroblast growth factor receptor 3 (FGFR3) mutations have been associated with achondroplastic syndromes and urinary bladder carcinomas. Here we describe changes in FGFR3 mRNA and protein expression in transitional carcinomas and determine the effect of monoclonal antibodies against FGFR3 in RT-112 cell line proliferation. EXPERIMENTAL DESIGN: We used microarray tools to evaluate FGFR3 mRNA expression in 22 urinary bladder carcinomas at different stages (noninvasive pTa, lamina propria invasive pT1, and muscular invasive pT2) and 7 nonneoplastic tissue controls. FGFR3 protein expression was evaluated by Western blotting in 15 different carcinomas and 3 nonneoplastic controls. Two hundred thirty-seven urinary bladder and renal pelvis carcinomas and 21 negative controls were tested on tissue microarrays by immunohistochemistry. The effect on cell proliferation in the RT-112 bladder cancer cell line of monoclonal antibodies against FGFR3 was also evaluated. RESULTS: Overexpression of FGFR3 mRNA was found in pTa and pT1 stage carcinomas (fold change >8) and in pT2 carcinomas (fold change >4). Nonneoplastic urinary bladder samples do not express FGFR3 protein. However, 83% of pTa, 100% of pT1, and 50% of pT2 carcinomas expressed FGFR3 as determined by Western blotting. By immunohistochemistry, FGFR3 was positive in 71.4% of pTa, 72% of pT1, and 49.2% of pT2 cases as well as 61.5% of upper urinary tract carcinomas. Proliferation of the RT-112 cell line was inhibited with monoclonal antibodies against FGFR3. CONCLUSIONS: FGFR3 seems to play an important role in transitional cell carcinoma development. Our results suggest that FGFR3 antagonists could be developed as possible therapeutics for treatment of urinary tract carcinoma.

Antibodies, Monoclonal↗
PubMed2005

Myxoma of the renal capsule.

Myxomas are uncommon soft-tissue neoplasms, which are extremely rare in the kidney, with only five cases documented in the intraparenchymal location. However, renal capsular myxoma has not yet been reported. We describe a unique case of a clinically detected renal myxoma arising in the capsule. A 37-year-old man receiving treatment for epididymitis sought medical assistance for infertility. A radiological examination incidentally discovered a right renal tumor. The mass intruded into the perirenal tissue and measured 6 cm in major diameter. The resected kidney contained a well-circumscribed gelatinous capsular tumor. It was composed of sparse, bland, slender, spindle-shaped cells scattered in large amounts of basophilic interstitial mucoid material. The tumor cells showed diffuse immunoreactivity for vimentin. Occasional cells stained for alpha-smooth muscle actin and calponin. Reactivity was negative for S100 protein, epithelial membrane antigen, pancytokeratin, neurofilament protein, and h-caldesmon antibodies. Ultrastructural examination revealed fibroblast-like cells with long thin cytoplasmic processes, prominent rough endoplasmic reticulum, a well-developed Golgi complex, and secretory vesicles. No basal lamina was identified around the tumor cells. The differential diagnosis includes many other benign and malignant soft-tissue lesions exhibiting prominent secondary myxoid features. It is important to consider a renal capsular myxoma when examining lesions at this anatomic site to avoid misdiagnoses and to ensure that the patient receives appropriate treatment and prognostic information.

Adult↗
PubMed2005

Cutaneous lipomatous neurofibroma: characterization and frequency.

BACKGROUND: There are numerous variants of cutaneous neurofibroma reflecting its manner of growth and histologic composition. Lipomatous neurofibroma is the latest described variant with only eight cases reported. METHODS: A systematic study based on 320 consecutive specimens diagnosed of cutaneous neurofibroma was carried out. Conventional microscopy, immunohistochemistry, and statistical methods were used to determine the presence of fat cells, their amount, distribution, and frequency. RESULTS: Intratumoral fat was observed in 22 (6.9%) neurofibromas. All these were dermal neurofibromas. Intraneoplastic fat was divided into two groups: focal and diffuse (regularly interspersed). Eighteen tumors (5.6%) presented adipocytes focally intermingled with the spindle cells. There were four (1.3%) neurofibromas showing spindle cell proliferation with regularly scattered adipocytes. Lipomatous neurofibroma was more frequent located on head and neck than non-lipomatous neurofibroma ( p = 0.04). Neurofibromas without mature adipocytes were more frequently immunoreactive for CD34 compared with tumors showing intratumoral fat ( p = 0.02). CONCLUSIONS: We suggest that both metaplasia and aberrant adipose differentiation from multipotential cells may result in lipomatous neurofibroma. Focal presence of adipose cells may be attributable to metaplasia as the pathogenic mechanism. The fatty tissue being intrinsic to the tumor structure in its diffuse form, the lesion represents a distinctive tumor of the peripheral nerve sheath.

Adipose Tissue↗
PubMed2005

Soft-tissue angiomatosis in adulthood: a case in the forearm showing a prominent myxoid adipose tissue component mimicking liposarcoma.

Soft-tissue angiomatosis is a rare condition characterized by diffuse proliferation of benign vascular structures, accompanied by mature adipose tissue, which affect a large segment of the body in a contiguous fashion. Most patients present in childhood or adolescence. We report a case of large soft-tissue angiomatosis, located in the left forearm of a 65-year-old man, which showed extensive intramuscular and intermuscular infiltration, and embracement of the radius and the main vascular and neural bundles of the forearm. Due to the deep location, large size, ill-defined limits and non-homogeneous composition with areas suggestive of an adipose component in the radiological examination, the lesion raised the possibility clinically of a liposarcoma. The myxoid adipose tissue component of the lesion, a feature previously undescribed, and the predominance of small, capillary-sized vessels were considered concordant with the clinical diagnosis. This presentation is rare. The features of the lesion made complete surgical excision impossible and amputation of the extremity was considered the best treatment. The main differential diagnoses include infiltrating lipoma, myxolipoma, angiomyxolipoma, angiolipoma, intramuscular angioma, liposarcoma and low-grade myxofibrosarcoma. In conclusion, angiomatosis might simulate liposarcoma, particularly if the mass is large, heterogeneous, myxoid and appears later in life.

Adipose Tissue↗
PubMed2005

Recurrence of bronchioloalveolar carcinoma in donor lung after lung transplantation: microsatellite analysis demonstrates a recipient origin.

Bronchioloalveolar carcinoma is a distinctive subtype of pulmonary adenocarcinoma, without effective therapy, although there have recently been some attempts to use lung transplantation. However, a high post-transplantation local recurrence rate is described with some controversy regarding the possible involved mechanisms, the main possibilities being the lymphatic spread and aerosolization. Presented herein is a case of a bilateral lung transplantation for a bilateral and pneumonic form of non-mucinous bronchioloalveolar carcinoma in a 43-year-old woman. The histological analysis of mediastinal lymph nodes during surgery did not show neoplastic cells. Thirty-five months after transplantation several nodular opacities in donor lungs were detected. Three pulmonary wedge resections were performed showing a non-mucinous bronchioloalveolar carcinoma with the same histological characteristics as the primary. Again, the mediastinal lymph nodes were tumor free. A complete microsatellites molecular analysis was performed to compare the primary and recurrent carcinoma using capillary electrophoresis, showing that the recurrent tumor was generated in a recipient cellular clone. The absence of lymph node metastasis and the molecular evidence of the recipient origin of the neoplasm supports the contamination of the new lungs at the time of implantation as being the reason for the high incidence of recurrence after lung transplantation in this kind of disease.

Adenocarcinoma, Bronchiolo-Alveolar↗