[Favourable course of cancer of unknown primary]. / Gunstig beloop bij een onbekende primaire tumor.

Favourable course of cancer of unknown primary Background Most patients with cancer of unknown primary have a very poor prognosis. Case description A 61-year-old woman was diagnosed with a cancer of unknown primary that had metastasised to the lymph nodes in the right axilla and the peritoneum. Because she could not be allocated to a treatable sub-group, she was eligible for treatment as part of a clinical trial. Prior to commencing treatment, molecular testing was conducted, the result of which suggested the primary tumour was a melanoma. We subsequently treated the patient with ipilimumab. Four years after diagnosis, there is no evidence of active disease and the patient remains in an excellent state of health. Conclusion Molecular and genetic testing can improve diagnosis and treatment options in patients with CUP. In the near future, PET-CT diagnostics and whole genome sequencing will probably suffice to identify the primary tumour.

Epidemiology, management and survival outcomes of primary cutaneous melanoma: a ten-year overview.

BACKGROUND: Malignant melanoma (MM) is the most aggressive type of skin cancer, accounting for 90% of all the skin cancer mortality. The objective of this study was providing an overview of current patient- and tumour characteristics, treatment strategies, complications and survival in patients with MM over the past ten years. Hereby, an up-to-date view of every day clinical practice is obtained. METHODS: Files of patients treated for primary cutaneous melanoma (n = 686) in the VieCuri Medical Centre in the Netherlands between January 2002 and December 2013 were retrospectively reviewed. Relevant patient features, tumour characteristics, and (surgical) outcomes were evaluated. RESULTS: The majority of all the patients presented thin tumours (59.1% stage 1A/in situ melanoma). Men showed more ulceration (17.7% vs. 8.4%, p < .01) and a significantly higher Breslow thickness than women (1.2 mm vs. 0.9 mm, p < .01). 14.6% (40/273) underwent sentinel lymph node biopsy (SLNB); 10/40 (25%) showed nodal metastasis, 50 patients (7.3%) developed distant metastases (M: 10.6%, F: 5%, p < .01). One-, 5- and 10- year disease specific survival rates were 96%, 86% and 84%, respectively. Median survival for stage 4 MM was 3 months. Extensive surgery was uncommon (n = 3). CONCLUSIONS: Patients generally presented with thin melanomas. Lymph node disease and distant metastases remained infrequently observed during following years, and general 1- and 5-year overall disease-specific survival rates exceeded 85%. Small numbers of rescue surgery and palliative medical treatment warrant further centralisation and investigation.

Myeloproliferative neoplasia: a review of clinical criteria and treatment.

Essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF) belong to the group of Philadelphia chromosome-negative myeloproliferative neoplasia (Ph- MPN). MPNs are clonal bone marrow stem cell disorders characterised by a proliferation of one or more of the myeloid, erythroid or megakaryocytic cell lines. Due to the different affected cell lines, MPNs show typical clinical and histological features. In 2005, a mutation in the JAK2 gene was discovered which generated more insight into the pathogenetic working mechanism of MPNs. However, the treatment of MPN patients is still mainly only palliative, although progress in reducing the symptoms of MPN patients has been made. This review will give a general overview of MPN patients for internal medicine physicians.

Nodular vasculitis in systemic lupus erythematosus.

A 42-year-old man presented with fever, photosensitivity, headaches, myalgia, hyperhidrosis, muscle weakness, alopecia, nasal crustae, weight loss, painful nails, arthritis, oral ulcers, erythema, discoid cutaneous lesions, and painful subcutaneous nodes. We made a diagnosis of systemic lupus erythematosus (SLE), type II cryoglobulinemia, and nodular vasculitis. In the skin, different types of vasculitis may be observed. Typically, histology shows leukocytoclastic vasculitis of superficial vessels both in SLE and mixed cryoglobulinemia, which clinically results in palpable purpura. In our patient, however, histopathological examination of the subcutaneous nodes not only revealed leukocytoclastic vasculitis of the superficial vasculature but also showed even more extensive involvement of dermal and subdermal small and medium sized vessels, giving rise to a nodular vasculitis.

Morphology of the bone marrow after stem cell transplantation.

In many haematological conditions the only curative option is stem cell (SCT) or bone marrow (BM) transplantation. Little information exists about BM morphology following non-ablative engraftment. During the pretransplantation period and depending on the kind of pretreatment, there may be hypoplasia, residual disease and varying degrees of fibrosis. In the post-transplantation period, after 1-3 weeks of transfusion-dependent pancytopenia, the first signs of successful engraftment are indicated by the recurrence of neutrophils, monocytes and erythrocytes in the peripheral blood. In the BM there is slow regeneration of erythropoiesis, followed by the other lineages of haematopoiesis and increase in reticulin fibres or even a resolution of fibrosis. Diagnostic problems arise when neoplastic lympho- or haematopoiesis are maintained following transplantation. Moreover, there may be a significant graft versus tumour response reaction or an already relapsing disease needing aggressive treatment. On the other hand, a conspicuous dyshaematopoiesis should not be mistaken as representing a myelodysplastic syndrome. The presence of granulomas being treatment-related or a manifestation of intercurrent granulomatous disease has to be considered. More advanced knowledge of the histological features of regenerating BM will certainly aid the recognition of relapsing disease and is needed for the adequate reporting of post-transplant alterations associated with a successful or failing engraftment.

[Indications for bone marrow biopsy in adults]. / Indicaties voor beenmergbiopsie bij volwassenen.

Bone marrow biopsies are more and more often part of the work-up of patients with haematological disorders. The most important reason for this is the fact that a biopsy supplies important additional information compared to an aspirate alone. Biopsies are superior for the assessment of the bone marrow architecture, the vascularisation, the cellularity, the localisation and the extent of infiltrates and the degree of fibrosis. In addition, biopsy is a good way to evaluate the effects of therapy in the course of the disease. As is the case with aspirates, examination of a biopsy alone is usually sufficient for a correct diagnosis. However, a combination of both techniques makes possible an optimal assessment of the nature and extent of the disease process in the often very serious haematological conditions that we are dealing with here.

Evaluation of variables influencing the outcome of the atopy patch test.

BACKGROUND: The number of positive atopy patch test (APT) results in patients with atopic eczema (AE) varies in different studies, probably because of different test techniques. Variables that may influence the outcome of the APT were evaluated. METHODS: APTs were performed in 84 patients with AE, 30 control patients with atopic disease, and 85 healthy volunteers, with house dust mite and grass pollen allergens in concentrations of 100, 1000, 10,000, and 100,000 allergenic units/ml. The influence of 0, 10, or 20 tape strippings was investigated. The tests were performed on the back and/or the antecubital fossa and evaluated after 20 minutes and 24, 48, and 72 hours. In all patients the total and specific serum IgE levels were measured. RESULTS: The maximal number of positive APT results were obtained under the following conditions: an allergen concentration equal to 10,000 allergenic units/ml, 10 tape strippings and readings at 24 and 48 hours. Positive APT results were observed in five of 30 control patients with atopic disease and in none of 85 healthy volunteers. Statistically significantly higher total and allergen-specific serum IgE levels were found in the group of patients with AE with positive APT results. CONCLUSIONS: We recommend the previously described conditions to get an optimal method for APT. The correlation between the APT and the total and specific serum IgE suggests an important role for IgE in the reaction mechanism behind the APT.