Biomedical subjects
A Gaulier
Publications and source records attributed to A Gaulier.
[Pruriginous and purpuric eruption].
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Papillary thyroid carcinoma: 6 cases from 2 families with associated lymphocytic thyroiditis harbouring RET/PTC rearrangements.
Familial papillary thyroid carcinoma (PTC) is a well recognized disease. However, genetic predisposition to familial PTC is rare and the molecular alterations at the origin of the pathology are unknown. The association between PTC and lymphocytic thyroiditis (LT) has been reported recently. We communicate here 6 cases of PTC associated with LT in 2 unrelated families. PTC was diagnosed on classical nuclear and architectural criteria. It was bilateral in 5 cases. Architecture was equally distributed between typical PTC and its follicular variant. LT was present in variable degrees, including in 4 cases, oncocytic metaplasia. Using the RT-PCR technique, we observed a RET/PTC rearrangement in the carcinomatous areas of patients of both families: PTC1 in family 1 and PTC3 in family 2 and a RET/PTC rearrangement in non-malignant thyroid tissue with LT in family 2. The RET/PTC band was weaker or absent in pure LT areas. Furthermore, using a polyclonal ret antibody, an apical or a diffuse cytoplasmic ret onc protein immunolabelling was observed in the three patients with RET/PTC1 rearrangement and in the three patients with RET/PTC3 rearrangement. In conclusion our data: (1) show the presence of a RET/PTC 1 or 3 rearrangement (depending on the family) together with a variable expression of ret protein in all the PTCs; (2) suggest that the molecular event at the origin of the PTCs seems to be particular to each one of the studied families; and (3) confirm that the ret proto-oncogene activating rearrangement(s) is an early event in the thyroid tumorigenic process and that it can be observed in association with LT.
[Atypical CADASIL phenotypes and pathological findings in two new French families].
Atypical phenotypes of CADASIL and corresponding anatomical data in two cases are described in 6 members of 2 new French families. In the first family, 4 cases in the same kindred were probably affected, two of them with a predominant psychiatric presentation, two others with dementia and a pseudo-bulbar syndrome of progressive evolution. No history of migraine or ischemic event were documented in any. In the propositus, the diagnosis was documented by skin biopsy, Notch 3 gene mutation and autopsy after the patient had died when 67 years old, 8 years after onset. Brain examination showed a widespread leukoencephalopathy with subcortical infarcts. Characteristic granular lesions of the small arteries of the brain and other organs were observed. In the second family, two cases are reported. One patient died when 63 years old after a subacute evolution mimicking intracranial hypertension. The anatomical diagnosis was retrospectively proven typical of CADASIL with Notch 3 immunostaining of arterial smooth muscle cells. The other case had a progressive evolution over 20 years of limb paresthesia with a mild spasticity diagnosed as a progressive form of multiple sclerosis. It was followed by a pseudo-bulbar syndrome and a mild subcortical dementia without acute ischemic attack. The diagnosis was confirmed by skin biopsy and mutation of the Notch 3 gene. This report illustrates
Occurrence of angioimmunoblastic T cell lymphoma in a patient with chronic myelomonocytic leukemia features.
In a patient with recently diagnosed chronic myelomonocytic leukemia features, the biopsy of a peripheral lymphadenopathy seven months later revealed disorganised lymphoid tissue with a few large EBER (+) LMP1 (+) B-lymphocytes before any treatment was given. At this time, a clonal TCR gamma rearrangement and very faint clonal IgH rearrangement were demonstrated, and the diagnosis of angioimmunoblastic T-cell lymphoma was made. Treatment with MOPP was started, followed by Hydroxycarbamide and CHOP but the outcome was fatal. During the evolution, there was no blastic transformation of the chronic myelomonocytic leukemia. The T-cell lymphoma extended to abdominal lymph nodes, Waldeyer ring and bone marrow and the percentage of large LMPI EBER (+) B-cells increased in the lymph nodes. These findings do not support a common stem cell abnormality leading to myelodysplasia in the bone marrow and lymphoma in peripheral lymph nodes. The lack of a clearcut light chain restriction in the EBV infected B-cell is suggestive of a persistant EBV infection in polyclonal or oligoclonal activated B-cells as described in immunodepressed patients. The association of CMML features and an angioimmunoblastic T-cell lymphoma is discussed.
Desmoid tumors supervening in two patients with chronic lymphocytic leukemia.
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[Acute pancreatitis in rheumatoid purpura. Apropos of 2 cases].
Abdominal pain observed in Henoch-Schönlein purpura (HSP) is usually attributed to digestive tract involvement. Pancreatic involvement is a rare and benign complication. The authors report two cases of acute pancreatitis as a complication of HSP. Pancreatitis was confirmed in both cases by clinical presentation and increase of serum amylase levels. Abdominal echography has demonstrated ascites or alithiasic cholecystitis without pancreatic abnormality. The prognosis was favourable in each case. Pathophysiologic mechanism is presumably a vasculitis of the small vessels specially within the pancreas leading to inflammation. Abdominal pain can be explained by a digestive tract involvement but also by an acute pancreatitis. This later occurrence is not as exceptional as reported in the literature. Thus, serum amylase levels should be evaluated in patients with HSP who have intense epigastric or abdominal pain, in order to recognize a pancreatic involvement.
Pleomorphic medium-sized T-cell lymphoma following Hodgkin's disease (nodular sclerosis type).
We describe a 32-year-old woman who presented with Hodgkin's disease, nodular sclerosis type II, subtype I, which necessitated several treatments over 11 years. The patient then developed pleomorphic, medium-sized T-cell lymphoma, which had a fatal outcome within 13 months. The role of radiotherapy, splenectomy, and chemotherapy in second tumor induction is compared with other sequential T-cell lymphomas. The significance of rare Epstein-Barr virus-infected cells during the T-cell lymphoma extension is discussed.
[Epstein-Barr virus cerebellitis in a patient with human immunodeficiency virus infection. Occurrence of EBV Hodgkin's disease at 2 years].
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Mucocutaneous criteria for the diagnosis of Behçet's disease.
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[Myocardial infarction caused by thrombosis of the left coronary artery in a patient with thrombocythemia].
Myocardial infarction is not exceptional in patients with essential thrombocythaemia. This infarction is often related to the formation of in situ coronary thrombosis with no associated atheromatous lesions. The authors report the case of a thrombocythaemic patient with anterior infarction due to thrombosis of the left coronary artery. The clinical course is often more severe than in nonthrombocythaemic patients. The pathophysiological mechanisms remain unclear, but appear to be related to qualitative rather than quantitative platelet abnormalities.
Sweet's syndrome during acute myeloid leukaemia: is there a role for hematopoietic growth factors?
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Systemic mastocytosis associated with chronic myelomonocytic leukemia: clinical features and response to interferon alfa therapy.
Systemic mastocytosis is a rare disease that shows marked heterogeneity in clinical manifestations and prognosis. It may be associated with hematologic disorders. We describe a patient with systemic mastocytosis associated with chronic myelomonocytic leukemia accompanied by ascites, pleural effusion, and development of skin lesions along a surgical scar. The disease responded well to interferon alfa therapy. This is the second report of successful treatment of mastocytosis with interferon alfa and the first associated with a hematologic malignancy.
[Lymphadenopathy of dermatosis in the course of drug hypersensitivity. Cytologic, immunohisto- and immunocytologic, ultrastructural aspects. Report of a case].
In addition to the morphological details obtained from the imprints, a simple immunocytological study allowed us to diagnose one case of a dermopathic lymphadenopathy simulating a T cell lymphoma, following a drug-induced erythrodermia. We were able to identify the increase of CD1a+ and Prot. S100+ cells on acetone fixed imprints. The histological, immunohistological and ultrastructural investigations confirmed the value of the cytological study and that the dendritic cells were Langerhans cells (Birbeck granules+). Most of them were considered as migrating from the dermal lesions.
Long-term response to interferon-alpha in a patient with systemic mastocytosis and chronic myelomonocytic leukemia.
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Leukemic relapse presenting with bronchial obstruction caused by granulocytic sarcoma.
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Bone marrow one step fixation-decalcification in Lowy FMA solution: an immunohistological and in situ hybridization study.
The immunoreactivity of paraffin embedded bone marrow biopsies (BMB) was studied following a one step 20-hour-fixation-decalcification in Lowy formalin mercuric chlorid acid solution which permits excellent histological stainings. Antibodies reactive with myeloid, megakaryocytic, erythroid cells, T and B lymphocytes, mastocytes and metastatic cells were compared. Nearly all antibodies working on paraffin sections were demonstrated on Lowy FMA fixed BMB. Special care was taken to define an optimal working dilution. Trypsinization was not necessary. A slide microwave pre-treatment appeared essential before testing CD20 L26, CD8, CD3, CD34, MB1 Kappa and Lambda antibodies. It was suitable for UCHL1, LN2, CD30 antibodies. The same fixative allowed an m RNA Kappa or Lambda in myeloma and EBER 1 EBV RNAs in HIV lymphoma visualization by in situ hybridization. The safety handling of the toxic mercuric chloride component is discussed.
Coexistence of Meyerson's with Sutton's naevus after sunburn.
We described the simultaneous occurrence of perinaevic eczema (Meyerson's naevi) and Sutton's halo naevus in one patient. Characteristic clinical and histological features of perinaevic eczema were found around four benign melanocytic naevi on the limbs. In addition, the patient had a typical Sutton's naevus on the back. The association of Meyerson's naevi and Sutton's naevus has been reported only once in the past literature. Both diseases appeared a few weeks after a severe sunburn. The role of sun exposure in the development of eczematiform and/or vitiligoid reactions around melanocytic naevi is discussed.