Population-based incidence and survival of gastrointestinal stromal tumours (GIST) in Girona, Spain.

BACKGROUND: Gastrointestinal stromal tumours (GIST) are rare malignancies characterised by their association with KIT oncogene mutations. Until now, population-based reports of the incidence or survival of kit-confirmed GIST have been rare, and none have originated in Southern Europe. MATERIALS AND METHODS: We used the Girona Cancer Registry to identify malignant mesenchymal tumours of the digestive tract between 1994 and 2001, and performed c-kit testing in the tumour samples. Age-adjusted incidence rates and survival rates were calculated, and they were also analysed by sex and NIH risk categories. RESULTS: Forty-six cases were categorised as GIST. Fifty percent were localised in the stomach, 43.5% in small intestine, 4.3% in the omentum, and 2.2% in colon. Thirty-seven percent were classified as high risk of an aggressive behaviour, 30.4% as intermediate risk and 32.6% as low or very low risk. Only one patient received treatment with imatinib mesilate. The annual incidence by 100,000 inhabitants in crude rate, European age-standardised rate and world age-standardised rate was, respectively, 1.09, 0.90 and 0.65 cases. The relative 5-year survival rate was 74.7% for the entire cohort, and it was markedly lower in the high-risk cases (20.3%). CONCLUSIONS: We report the first population-based study of GIST incidence and survival in Southern Europe. The incidence rate is low and comparable with that of cancer registries from Northern Europe. Survival was favourable in our pre-imatinib population although it was low in high risk cases. Prognostic discrimination of the cases with intermediate, low, or very low risk is inadequate, and these categories should be considered jointly in the future. Our results will help researchers in establishing baseline values against which they can compare, in the future, the impact of imatinib and other Kit tyrosine inhibitors on survival.

[Gastrointestinal inflammatory fibroid polyps. Clinical characteristics and follow-up in a series of 26 patients]. / Pólipo fibroide inflamatorio gastrointestinal. Características clínicas y seguimiento de una serie de 26 pacientes.

INTRODUCTION: Inflammatory fibroid polyp (IFP) is a protuberant lesion, located near the muscularis mucosae and composed of a proliferation of fusiform cells and conjunctive fibers surrounding capillaries and a variable inflammatory infiltrate. It is believed to be a poorly controlled inflammatory repair response. Our aim was to study the clinical, pathological and follow-up characteristics of a series of patients with IFP. PATIENTS AND METHOD: We studied 26 IFPs from 25 patients (16 women and 9 men) registered between 1985 and 2001 in a specific register of 3 centers in the city of Gerona (Spain). The variables analyzed were age, sex and clinical presentation, IFP localization and size, mucosal characteristics and associated disease, as well as follow-up information. Routine statistical analyses were performed. RESULTS: IFPs were antral in 16 patients, ileal in 7, jejunal in 2 and colonic in the remaining patient. Size determined whether they were symptomatic (35 +/- 13.6 mm) or asymptomatic (8.4 +/- 6.3 mm). Gastric polyps were significantly smaller than intestinal polyps. Symptomatic polyps (5 out of 16 gastric polyps and 9 out of 10 intestinal polyps) predominated in women and occurred at a significantly lower age than asymptomatic polyps (59.2 versus 74.1 years). Most gastric IFPs were associated with chronic atrophic gastritis while only one ileal polyp was associated with Meckels diverticulum. The mean length of follow-up was 60.6 months and, except in one patient who underwent incomplete resection, no recurrences of IFP were observed. CONCLUSION: IFP is a heterogeneous entity, depending on age at presentation, sex, size and location in the digestive tract. IFP does not recur after resection. The association of gastric IFP and chronic atrophic gastritis could suggest a modulatory effect of the mucosa on IFP growth.

Pólipo fibroide inflamatorio gastrointestinal. Características clínicas y seguimiento de una serie de 26 pacientes / Gastrointestinal inflammatory fibroid polyps. Clinical characteristics and follow-up in a series of 26 patients

INTRODUCCIÓN: El pólipo fibroide inflamatorio (PFI) es una lesión protuberante que se localiza cerca de la muscularis mucosae y está constituida por una proliferación de células fusiformes y fibras conjuntivas alrededor de los capilares y un infiltrado inflamatorio variable. Se considera una reacción inflamatoria reparadora mal controlada. El objetivo de este trabajo ha sido estudiar las características clínicas, anatomo-patológicas y de seguimiento de una serie de pacientes con PFI.PACIENTES Y MÉTODO: Se han estudiado 26 PFI (25 pacientes:16 mujeres y 9 varones) recogidos entre los años 1985 y2001 en un registro específico de 3 centros de la ciudad de Girona. Las variables analizadas fueron la edad, el sexo y la presentación clínica, la localización y el tamaño del PFI, las características de la mucosa y las enfermedades asociadas, así como información del seguimiento. Se realizaron las pruebas estadísticas habituales. RESULTADOS: El PFI fue antral en 16 casos, ileal en 7, yeyunalen 2 y colónico en el restante. Su tamaño condicionó su carácter sintomático (35 ± 13,6 mm) o asintomático (8,4 ±6,3 mm). Los pólipos gástricos fueron significativamente más pequeños que los intestinales. Los pólipos sintomáticos(5 de 16 gástricos y 9 de 10 intestinales) predominaron en mujeres y en edades significativamente inferiores que los asintomáticos (59,2 frente a 74,1 años). La mayoría delos PFI gástricos se asociaron a gastritis crónica atrófica, mientras que sólo un PFI ileal lo hizo a divertículo de Meckel. El seguimiento medio fue de 60,6 meses y, salvo en un caso de resección incompleta, no se constató recidiva del PFI. CONCLUSIÓN: El PFI es una entidad heterogénea según la edad de presentación, el sexo de los pacientes, su tamaño y la localización en el tubo digestivo. Tras la resección, el PFI no recidiva. La asociación de los PFI gástricos a gastritis crónica atrófica podría apuntar a un efecto modulador de la mucosa sobre el crecimiento del PFI

INTRODUCTION: Inflammatory fibroid polyp (IFP) is a protuberant lesion, located near the muscularis mucosae and composed of a proliferation of fusiform cells and conjunctive fiberssurrounding capillaries and a variable inflammatoryin filtrate. It is believed to be a poorly controlled inflammatory repair response. Our aim was to study the clinical, pathological and follow up characteristics of a series of patients with IFP.PATIENTS AND METHOD: We studied 26 IFPs from 25 patients(16 women and 9 men) registered between 1985 and 2001 ina specific register of 3 centers in the city of Gerona (Spain).The variables analyzed were age, sex and clinical presentation, IFP localization and size, mucosal characteristics and associated disease, as well as follow-up information. Routine statistical analyses were performed. RESULTS: IFPs were antral in 16 patients, ileal in 7, jejunal in 2and colonic in the remaining patient. Size determined whether they were symptomatic (35 ± 13.6 mm) or asymptomatic (8.4 ±6.3 mm). Gastric polyps were significantly smaller than intestinal polyps. Symptomatic polyps (5 out of 16 gastric polyps and9 out of 10 intestinal polyps) predominated in women and occurred at a significantly lower age than asymptomatic polyps(59.2 versus 74.1 years). Most gastric IFPs were associated with chronic atrophic gastritis while only one ileal polyp was associated with Meckel’s diverticulum. The mean length of follow up was 60.6 months and, except in one patient who underwent in complete resection, no recurrences of IFP were observed. CONCLUSION: IFP is a heterogeneous entity, depending on age at presentation, sex, size and location in the digestive tract. IFP does not recur after resection. The association of gastric IFP and chronic atrophic gastritis could suggest a modulatory effect of the mucosa on IFP growth

[Immunonegative necrotizing glomerulonephritis: an atypical case of lupus nephropathy]. / Glomerulonefritis necrotizante inmunonegativa: un caso de nefropatía lúpica atípico.

We report here a case of systemic lupus erythematosus with severe, active pauci-immune necrotizing and crescentic glomerulonephritis. This patient had been diagnosed of a lupus nephritis type III previously and treated with steroids and azathioprine. After a renal symptomless period of nine years, she developed heavy proteinuria and hypertension. A second kidney biopsy was then performed. The pathological study disclosed a pauci-immune necrotizing crescentic and segmental glomerulonephritis. The absence of subendothelial and mesangial deposits was confirmed by both immunofluorescent microscopy and electron microscopy. The simultaneous immunological study showed normal ANCA levels while complement, anti-dsDNA and ANA were altered. The patient was treated with steroids and cyclophosphamide eith good response. This case points out the possibility previously recognized by others of an association between lupus and an pauci-immune necrotizing glomerulonephritis.

Fatal right spontaneous haemothorax in Von Recklinghausen's disease.

Spontaneous massive haemothorax is uncommon and usually occurs as a result of pulmonary infarction, arteriovenous fistula, neoplasm, ruptured aortic aneurysm, rupture of pleural adhesions or pleural endometriosis. Massive haemothorax in Von Recklinghausen's disease occurs rarely but with potentially fatal results in spite of surgery. We present a case of a spontaneous massive exsanguinating haemothorax in a patient with neurofibromatosis type 1 caused by rupture of a branch of the right subclavian artery. Bleeding was probably due to neurofibromatous invasion of the arterial wall.

Invisible mycosis fungoides: A diagnostic challenge.

We describe a 76-year-old woman who presented persistent generalized pruritus as the only cutaneous manifestation of a cutaneous T-cell lymphoma (mycosis fungoides). No cutaneous lesions were observed throughout the patient's course. Skin biopsies obtained from normal-looking pruritic skin revealed a discrete perivascular lymphocytic infiltrate in the upper dermis and focal intraepidermal clusters of atypical lymphoid cells (Pautrier's microabscesses). PCR analysis of TCR-gamma gene disclosed a monoclonal T-cell rearrangement. Sequencing of the PCR monoclonal product identified the J(8)V(2)C(2) TCR gene rearrangement. This observation illustrates the existence of a peculiar and exceedingly rare form of mycosis fungoides characterized only by persistent pruritus unresponsive to several therapeutic approaches. The diagnostic difficulties of this rare variant are stressed.

Fine-needle aspiration cytology of columnar-cell carcinoma of the thyroid: report of two cases with cytohistologic correlation.

The columnar-cell variant of papillary carcinoma is a rare tumor of the thyroid, associated with aggressive behavior, early visceral metastasis, and a rapidly fatal course. In this report we present the fine-needle aspiration cytologic findings of two examples of this variant of papillary carcinoma with cytohistologic correlation. In the smears, clusters, monolayered sheets, and scattered papillary fronds of tumor cells were present. The tumor cells were columnar and exhibited overlapping and stratification of the nuclei. In the first case the tumoral cells showed round nuclei with finely granular chromatin pattern, small nucleoli and vacuolated-appearing cytoplasm. The malignant cells in the second case presented oval to elongated nuclei with stippled chromatin, inconspicuous nucleoli and indistinct cytoplasmic borders. It is important to distinguish this tumor from the common thyroid papillary carcinoma because of its much more aggressive behavior.

Massive crystal-storing histiocytosis associated with low-grade malignant B-cell lymphoma of MALT-type of the parotid gland.

Massive crystal deposition is unusual in lymphoproliferative disorders. In this report, a mucosa-associated lymphoid tissue (MALT) low-grade B-cell lymphoma of the parotid gland containing large numbers of crystal-storing histiocytes is described. The patient, an 81-yr-old female, presented with a history of long-standing left parotid gland enlargement. FNA cytology of the tumor showed a lymphoplasmacytic infiltrate and sheets of large benign histiocytes with abundant eosinophilic intracytoplasmic inclusions. Paraffinsection immunohistochemistry performed on the cell block demonstrated that the histiocytic cells were immunoreactive for the KP-1 (CD-68) antibody and monotypic for cytoplasmic IGM and L-light chain. The cytological diagnosis was consistent with a low-grade B-cell lymphoma with plasmacytic differentiation associated with crystal-storing histiosis. A periparotid lymph node was biopsied and showed involvement by a monocytoid B-cell lymphoma with plasmacytic differentiation and crystal-storing histiocytosis in the pericapsular region.

The Purkinje cell in olivopontocerebellar atrophy. A Golgi and immunocytochemical study.

Purkinje cells were examined in three familial cases of olivopontocerebellar atrophy (OPCA) by means of the Golgi method, and neurofilament and calcium-binding protein immunocytochemistry. Reduced dendritic arborizations, as seen with different techniques, early formation of axonal spheroids, and abnormal accumulation of phosphorylated neurofilament epitopes in dendrites, somata and axonal spheroids, together with limited formation of proximal spine-like protrusions were the main changes in Purkinje cells. These lesions are unlikely to be the consequence of anterograde degeneration secondary to olivary atrophy, as postulated by some investigators, but probably represent primary damage to Purkinje cells in patients with OPCA. Reduced dendritic arborizations result in a decrease of receptor sites for parallel fibres and deprive granule cells of their main targets. Abnormal accumulation of neurofilaments in somata, dendrites and axonal spheroids may contribute to an abnormal transport and may impair protein turnover in the distal regions of Purkinje cells.

[Early diabetic nephropathy in a patient with agenesis of one kidney]. / Nefropatía diabética temprana sobre riñón único.

A 24 year old male diagnosed of type II diabetes mellitus of 2 years of known clinical evolution discovered by an episode of hyperglycemic decompensation without ketoacidosis is presented. In the study of possible visceral involvement of the disease agenesis of the left kidney with compensating hypertrophy of the right kidney, increase of glomerular filtrate and proteinuria of 1.8 g/24 hours were observed. Renal histologic study demonstrated the existence of diffuse intercapillar glomerulosclerosis compatible with diabetic glomerulopathy. From these data and review of the literature the possibility of the greater risk of individuals with a single kidney to present nephropathy in the case of coexistence of associated diabetes mellitus.

[Churg-Strauss syndrome: 8 cases in the last 10 years]. / Síndrome de Churg-Strauss. Ocho casos en los últimos diez años.

The clinical and histopathological findings of 8 patients with a diagnosis of Churg-Strauss syndrome seen in our institution in a 10 year period have been reviewed. All patients had asthma and hypereosinophilia (mean eosinophil count 7.64 x 10(9); range: 0.748 x 10(9)-31.46 x 10(9) eosinophils/l). The organs and systems involved in the late phase of the syndrome (vasculitic phase) were: nervous system (16 cases), respiratory system (5 cases), skin and subcutaneous tissue (5 cases), heart (3 cases), digestive system (3 cases) and kidney (1 case). The diagnosis was made on the basis of the clinical and histopathological findings. In 7 cases necrotizing angiitis was shown, tissue eosinophilia in 4, and extravascular granulomas in 2. In most cases, corticosteroid therapy resulted in a favorable course, but cyclophosphamide was required in two patients. In the discussion, the evolution of the criteria for the diagnosis of this condition is analyzed.

Infantile fibrosarcoma of femur.

We describe the clinical presentation and pathological features of an infantile fibrosarcoma of the femur that occurred in a 3 1/2-month-old male infant. The tumor grew rapidly, reaching large size within a few months, finally requiring amputation. The tumor was poorly circumscribed, infiltrating the adjacent soft tissue extensively. Microscopically, it was a highly cellular tumor composed of immature-appearing spindle-shaped cells. Ultrastructural study revealed mesenchymal cells with fibroblastic and histiocytic differentiation.

Nephrogenic metaplasia of the ureter.

A case of nephrogenic metaplasia of the left ureter occurring in a 7-year-old male child, associated with recurrent urinary infection and previous surgical intervention, is described. This is to our knowledge the third reported case of this entity. Nephrogenic metaplasia involves the transitional epithelium of the urinary tract and results in the formation of structures histologically similar to renal tubules.

Pulmonary sequestration associated with unilateral pulmonary hypoplasia and massive pleural effusion. A case report and review of the literature.

Pulmonary sequestration associated with pulmonary hypoplasia and pleural effusion is very uncommon. Only three cases have been previously reported in the literature. We add one more case and describe its interesting clinical, radiological and pathological findings.

Amiodarone and pulmonary fibrosis.

Of 25 cases of idiopathic pulmonary fibrosis, confirmed by open chest lung biopsy between January 1979 and July 1981, 5 patients had been taking amiodarone in doses less than 600 mg daily for 1 to 6 years. No lung disease had been observed in any patient before the administration of amiodarone, and other drugs, factors and diseases thought to play a role in the causation of pulmonary fibrosis were ruled out. Two patients died of respiratory insufficiency, and only 1 does not now suffer from serious sequelae. Review of a further 5 cases reported in the literature and the present data suggest a causal link between administration of amiodarone and pulmonary fibrosis, and tend to indicate a hypersensitivity mechanism.