Marie Paule Algros

Carcinome à cellules de Merkel : étude descriptive de 24 cas (1993–2001)

Resume Introduction. – Le carcinome a cellules de Merkel (CCM) est une tumeur rare de mauvais pronostic dont la prise en charge therapeutique optimale reste encore a definir. L’exerese chirurgicale de la tumeur primitive en est le traitement de reference et la realisation d’une radiotherapie ou d’une chimiotherapie adjuvante peut etre discutee. Malades et methodes. – Vingt-quatre cas de CCM recenses sur une periode de 9 ans (dont 17 cas dans le departement du Doubs), ont ete analyses de facon retrospective. Les caracteristiques cliniques et histologiques et la reponse aux differents traitements ont ete evaluees. Resultats. – Nos patients etaient representes par 17 femmes et 7 hommes âges en moyenne de 74,3 ans. Le suivi median des patients etait de 34 mois. L’incidence annuelle pour le departement du Doubs etait de 0,378 pour 100 000 habitants. La localisation cervicocephalique etait predominante (54 %). Lors du diagnostic, 68 % des patients presentaient un stade I et 32 % avaient une localisation ganglionnaire (stade II) ou viscerale (stade III). Pour les 15 patients de stade I, la survie globale a 5 ans etait de 73,85 %. Une recidive locale ou ganglionnaire etait notee dans cinq cas (33 %), bien que deux patients aient ete traites par chirurgie et radiotherapie locale postoperatoire. Pour les stades II et III, la survie globale a 5 ans etait de 51,43 %. Discussion . – Notre serie de 24 patients illustre les caracteristiques cliniques, histologiques et evolutives de cette tumeur rare du sujet âge de mauvais pronostic. La prise en charge therapeutique est discutee.INTRODUCTION Merkel cell carcinoma (MCC) is a rare skin tumor with a highly malignant nature whose appropriate treatment is still debated. Wide surgery is the treatment of choice, but the question concerning protocols for adjuvant radiotherapy or chemotherapy remains open. PATIENTS AND METHODS A retrospective analysis of 24 cases of MCC collected over a period of 9 years was performed, focusing on clinical and histologic features, and response to treatment. RESULTS There were 17 women and 7 men with a mean age of 74.3 years. The median follow up was 34 months. The annual incidence per 100,000 habitants was 0.378. The head and neck localization was predominant (54%). Fifteen (68%) of patients presented with local disease (stage I), and 32% of patients presented with regional node (stage II) or distant metastases (stage III). Patients with stage I had a 5-years overall survival rate of 73,85%. Among them, five patients (33%) developed a local or nodal recurrence, although two patients were initially treated with surgery and local post-operative radiotherapy. Patients with stage II and III demonstrated a 5-year overall survival rate of 51,43%. DISCUSSION Our series illustrates the clinical characteristics of this tumor of the elderly, which is mainly located on head and neck and associated with a poor prognosis. Treatments are discussed.

Trois observations de tumeurs stromales de l’intestin grêle à fibres en écheveau

Gastrointestinal stromal tumours (Gist) are mesenchymal tumour with uncertain prognosis occurring in the gastrointestinal tract wall. For clinicians, these tumours raise two problems: to establish the diagnosis and to determinate the future behaviour for the choice officient therapeutics. For the diagnosis the new marker c-KIT is useful. A new treatment with an inhibitor of c-KIT has given encouraging results. currently there is no consensus on specific cut-points to distinguish as low or high risk (i.e., malignant) Gist. For metastases-free Gist, the prominent histopronostic markers are size, mitotic index and localization of the tumour. The small intestine Gist have the reputation to be more aggressive than in other localization. Skenoid fibers in small intestine Gist could be a marker of good prognostic. The authors reported three cases of small intestine Gist with skenoid fibers. The discussion point out the significance of this particular morphological aspect.

BRAF mutation screening in melanoma: is sentinel lymph node reliable?

As the detection of the BRAF V600E mutation has a direct impact on treatment decision, an accurate screening for BRAF mutations in patients with advanced or metastatic melanoma is mandatory. Nevertheless, BRAF oncogene mutation status between different samples from the same patient has been studied with conflicting results. This study investigated the intrapatient homogeneity of BRAF mutation status using pyrosequencing in primary tumors and different metastatic sites of melanoma patients. Paired samples of lymphatic, visceral, and subcutaneous metastases and primary melanoma from 45 metastatic melanoma patients were tested for BRAF mutations using a pyrosequencing assay and by Sanger sequencing. Overall, sequencing for BRAF mutation status was performed in 114 paired samples from 45 patients. Eighteen patients (40%) carried a BRAF mutation, including BRAF V600E (12/18), BRAF V600K (5/18), and BRAF V600R (1/18) mutations. Multiple BRAF mutations (V600E and V600K) were found in one patient. Among the patients with BRAF mutations, a good agreement in BRAF mutation status was found between the first and second tumor samples genotyped (91%; Cohen’s &kgr; coefficient: 0.81). Discordance in BRAF mutation status was found only in four patients, involving all three patients in whom sentinel lymph node (SLN) metastases were sampled. These SLNs exhibited a wild-type genotype and were discordant with the other BRAF-mutated samples found in the same patient. The intrapatient BRAF status was predominantly homogeneous. However, SLN genotyping using pyrosequencing might be inaccurate in determining the actual mutation status of melanoma. Further studies are required to confirm the lack of reliability of SLN.

Myofibromatose infantile familiale

BACKGROUND Infantile myofibromatosis (IM) is the most common fibrous disorder of infancy and childhood. It is characterized by congenital tumours of the skin, striated muscle, bones and viscera. Most cases are sporadic and few familial cases have been reported. PATIENTS AND METHODS We describe a 5-month-old girl presenting with two congenital nodules. The diagnosis of infantile myofibromatosis was based on clinical and histopathological examination. Surgical excision was performed and there was no relapse at six years. The patients brother presented multiple nodules and toe necrosis at birth due to infantile myofibromatosis. Two months later, the congenital nodules increased in size and new nodules developed. Surgical excision was performed. At 11 months of age, the boy presented with cranial relapse and bone resorption at P3 of the third right toe. The clinical and radiological investigations were normal. DISCUSSION Three clinical forms of IM have been described: solitary cutaneous nodules, multiple cutaneous nodules and generalized MI with visceral involvement. The prognosis is good except in generalized MI. All familial cases of MI may be interpreted as autosomal dominant or alternatively there may be genetic heterogeneity. Strict follow-up is recommended to identify potentially life-threatening complications. Spontaneous regression usually occurs but in some cases the treatment of choice is surgical removal.

A female case of Fox-Fordyce disease

Fox-Fordyce disease (FFD) is a rare, chronic, pruritic, inflammatory disorder of apocrine glands. It is characterised by dome-shaped, firm, discrete, skin-coloured, and monomorphic perifollicular papules. The most common sites of involvement are axillae and anogenital and periareolar regions that are rich in apocrine sweat glands [1]. We report a new case of FFD.A 22-year-old woman was referred for evaluation of asymptomatic papules in the axillae (figure 1A). The eruption had appeared one year earlier. [...]

A Painful Inflammatory Lesion on the Dorsum of the Hand of a Patient With Rheumatoid Arthritis Treated With Methotrexate

Diagnosis: Acrodermatitis chronica atrophicans (ACA). The patient’s history did not indicate the presence of tick bites, but she lived in an area endemic for tick-borne diseases. Skin biopsy revealed a discrete epidermal atrophy with a dense perivascular lymphocytic infiltrate rich in plasma cells in the dermis. Enzyme-linked immunosorbent assays (ELISAs) composed of antigens belonging to 3 genospecies (Borrelia burgdorferi sensu stricto, Borrelia afzelii, and Borrelia garinii) showed positive titers of B burgdorferi antibodies (immunoglobulin G [IgG] 17 Biomedica Borrelia units/mL). ELISA results were confirmed by Western blotting (IgG and immunoglobulin M [IgM] positive against borrelial antigens VlsE-Mix, IgG anti-p58, and -p83 were detected). Borrelia burgdorferi–specific DNA was amplified from the biopsy material using polymerase chain reaction (ARN S23). The patient was treated with ceftriaxone (2 g intravenously for 21 days). The skin lesion partly faded away after treatment, and methotrexate was reintroduced for rheumatoid arthritis. No recurrence was observed after 3 months of follow-up. First described by Buchwald in 1883, ACA is a late cutaneous manifestation of Lyme disease occurring months to years after inoculation. Lesions occur particularly in the acral skin due to cooler temperatures. It usually appears on the distal part of one extremity, predominantly on the extensor surfaces and especially on bony prominences. It occurs primarily in the elderly due to persistent borrelial infection. Fibrotic nodules localized linearly in the vicinity of joints and lymphadenopathy may also be present. The most frequent extracutaneous manifestation of ACA is peripheral neuropathy. Acrodermatitis chronica atrophicans does not heal spontaneously; gradual conversion into its atrophic phase may occur during many years after the infection [1–3]. Two risk factors may be suspected in our observation to explain this late manifestation of Lyme disease. Although we did not find any similar observation of ACA in immunosuppressed patients or after axillary surgery, we cannot exclude that longterm methotrexate treatment and the history of axillary lymph node dissection may have induced this late local dissemination.