[Infiltration of the skull by dedifferentiated cutaneous leiomyosarcoma]. / Infiltration der Schädelkalotte durch ein dedifferenziertes kutanes Leiomyosarkom.

We present a brief report of an 81-year-old man with a pretreated leiomyosarcoma of the skull. Histologically the diagnosis of a dedifferentiated cutaneous leiomyosarcoma with an infiltration of the skull was confirmed. In an interdisciplinary approach together with the University Clinic for Neurosurgery, complete removal of the tumour was performed. Cutaneous leiomyosarcoma are rare tumors of the skin and typically present as slowly growing erythematosus nodes. Because of the risk of metastatic spread, complete micrographically confirmed resection is necessary.

[Digital papillary adenocarcinoma : Four case reports with brief literature review]. / Digitales papilläres Adenokarzinom : Vier Fallberichte mit kurzer Literaturübersicht.

Digital papillary adenocarcinoma is a rare but well characterized carcinoma of the sweat glands, which apart from very few exceptions is localized in acral skin. This type of sweat gland carcinoma tends to recur locally and may cause delayed metastases in a few cases. We describe the clinical findings and the broad histopathologic spectrum of four cases of this rare adnexal carcinoma and give a short summary of the literature.

[Fibrohistiocytic tumors of the skin: a heterogeneous group of superficially located mesenchymal neoplasms]. / Fibrohistiozytäre Tumoren der Haut: Eine heterogene Gruppe oberflächlich lokalisierter mesenchymaler Neoplasien.

So-called fibrohistiocytic tumors of the skin comprise a heterogeneous spectrum of superficially located neoplasms that often show fibroblastic and/or myofibroblastic differentiation. In this review clinicopathologically important variants of dermatofibroma and dermatofibrosarcoma protuberans and their differential diagnoses are discussed in detail. In addition, the clinicopathological features of atypical fibroxanthoma, angiomatoid fibrous histiocytoma, plexiform fibrohistiocytic tumors and pleomorphic dermal sarcoma are presented. Entities that have to be considered in the differential diagnosis are also mentioned.

[Instrumental registration of psychomotor symptoms in schizophrenia: has the time come to use the technique in clinical practice?]. / Instrumenteel meten van psycho-motorische symptomen bij schizofrenie: klaar voor de praktijk?

BACKGROUND: In clinical practice, psychomotor deficits are currently assessed by means of observation scales. However, instrumental (including mechanical and electronic) measurement techniques might also be valuable in clinical practice. AIM: To discuss the added value of using instrumental registration of psychomotor functioning into clinical practice. METHOD: We investigated the main pros and cons of instrumental registration by searching the literature systematically and we discuss our findings using concrete examples. RESULTS: Compared to observation scales, instrumental registration yields more reliable and sensitive information about the psychomotor functioning of patients. Another advantage of instrumental registration is that it gives us an opportunity to study affected sub-processes and underlying mechanisms. However, the validity of these measurements depends on whether instrumental registration can adequately reflect aspects of a movement that can be observed clinically. CONCLUSION: Clinical practice could benefit substantially from using instrumental registration of psychomotor disturbances in schizophrenia. However, more time and money needs to be invested in research before the new technique is fully validated and ready for use in clinical practice.

Fumarate hydratase immunohistochemical staining may help to identify patients with multiple cutaneous and uterine leiomyomatosis (MCUL) and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome.

AIMS: Multiple cutaneous and uterine leiomyomatosis (MCUL) also named as hereditary leiomyomatosis and renal cancer syndrome (HLRCC) is an autosomal dominant disorder caused by heterozygotic germline mutations in fumarate hydratase (FH) with incomplete penetrance and clinically challenging to diagnose. To test immunohistochemistry for FH as a potential marker for the detection of FH-deficiency. METHODS AND RESULTS: We have tested 42 smooth muscle neoplasms, 13 lesions of patients with suspicious or confirmed HLRCC, 20 sporadic piloleiomyomas, two angioleiomyomas and 7 leiomyosarcomas. FH staining grades from 1 to 3. Ten of the 13 lesions from the patients with HLRCC syndrome showed negative FH staining. Most sporadic piloleiomyomas presented grade 3 FH staining although five cases presented grade 1 FH staining. Sensitivity of FH staining in our series is 83.3% but specificity is 75%. CONCLUSIONS: This staining could indicate a high risk of HLRCC in most of the confirmed cases but it could also suggest the presence of a syndrome in up to 25% of sporadic cases. HLRCC syndrome should be rule out in FH negative piloleiomyomas after complete anamnesis if multiple lesions or positive familiar history is found.

[Skin adnexal tumors with follicular differentiation]. / Hautadnextumoren mit Haarfollikeldifferenzierung.

Skin adnexal tumors with predominantly follicular differentiation represent a clinicopathological heterogeneous group of neoplasms and are classified according to the cytologically achieved differentiation of the follicular compartment. Given the complex structure of non-neoplastic hair follicles it is not surprising to find varying differentiations in neoplasms and there are overlapping clinicopathological features between the established entities. The use of immunohistochemical staining has only a limited value in the diagnosis of follicular neoplasms.

[Endocrine mucin-producing sweat gland carcinoma. three case reports with a brief review of the literature]. / Endokrines muzinproduzierendes Schweißdrüsenkarzinom. Drei Fallberichte mit kurzer Literaturübersicht.

Endocrine mucin-producing sweat gland carcinoma (EMPS) is a rare low-grade sweat gland carcinoma with an infiltrating growth pattern. It occurs mostly in women and shows a predilection for the periorbital region. Histopathologically, the tumor shows analogous features to endocrine ductal carcinoma/solid papillary carcinoma of the breast and shares some clinical and morphological similarities with primary mucinous carcinoma of the skin. The tumor is characterized by large monomorphous epithelial cells with little nuclear pleomorphism and only a few mitotic figures. The solid cystic tumor shows mucin-filled small cystic spaces, cribriform areas and expresses the neuroendocrine markers synaptophysin, chromogranin and neuron-specific enolase with varying staining intensities. The tumor cells are also positive for estrogen and progesterone receptors. We present three cases of this rare tumor with typical clinical, histopathological and immunohistochemical findings, give a short summary of the literature and discuss the most relevant differential diagnoses.

Postradiation cutaneous angiosarcoma after treatment of breast carcinoma is characterized by MYC amplification in contrast to atypical vascular lesions after radiotherapy and control cases: clinicopathological, immunohistochemical and molecular analysis of 66 cases.

Postradiation cutaneous vascular lesions after treatment of breast carcinoma comprise a heterogeneous group of benign, atypical, and malignant lesions and are best regarded as points along a morphological spectrum. We analyzed a series of cutaneous angiosarcomas after treatment of breast cancer in comparison with control cases and cases of atypical vascular lesions with special emphasis on the expression and amplification of MYC. The 66 cases were divided into control cases (5), cases in which a slight vascular proliferation was seen after radiotherapy of breast cancer (12), cases of atypical vascular lesions after radiotherapy (16), cases of postradiation cutaneous angiosarcomas (25), and cases of angiosarcomas of skin and soft tissues unrelated to radiotherapy (8). None of the control cases (2 M, 3 F, 20-76 years), of cases showing slight vascular proliferation, dermal fibrosis and inflammation after radiotherapy of breast cancer (12 F, 48-79 years), of cases of atypical vascular lesions after radiotherapy (16 F, 29-81 years), and of cases of angiosarcomas of skin and soft tissues unrelated to radiotherapy (3 M, 5 F, 25-92 years) showed an amplification of MYC by FISH analysis. In striking contrast, in all cases of postradiation cutaneous angiosarcomas (25 F, 46-95 years), MYC amplification was found by FISH analysis in a variable number of counted nuclei. Immunohistochemically, strong positive nuclear staining for MYC and prox-1 was seen in cases of postradiation cutaneous angiosarcoma, whereas control cases and cases of atypical vascular proliferation after radiotherapy were negative for MYC, and stained only focally positive for prox-1 in a number of cases. In conclusion, the presence of MYC amplification represents an important additional diagnostic tool in the distinction of postradiation cutaneous angiosarcomas from atypical vascular lesions after radiotherapy. Immunohistochemical stainings for MYC are useful for mapping of these lesions and for careful tumor margin control.

[Tumor of the peroneal compartment]. / Tumor der Peronäusloge.

Degenerative nuclear atypia in mesenchymal neoplasia, especially in benign nerve sheath tumors, may become a pitfall leading to a wrong diagnosis of a sarcoma. Using a case of degenerative (ancient) schwannoma as an example, the characteristic findings of degenerative atypia are presented and discussed.

[Mitosis in early invasive malignant melanoma. How reliable is histogenetic classification at stage pT1?]. / Mitosen bei frühinvasiven malignen Melanomen. Wie sicher ist die histogenetische Zuordnung im Stadium pT1?

Since early February 2010 we have been implementing the latest version of the 2009 AJCC Melanoma Staging and Classification in our institution. Since, according to the guidelines for stage pT1 melanomas, the number of mitoses/mm(2) is of particular significance, we have been able to observe a notable shift from pT1a to pT1b. Highlighting the mitotic count as one of the key features of the diagnosis of malignant melanoma, we observed that the major part of stage-switched melanomas belonged to a minimally invasive subset of melanomas previously categorized as pT1a UICC (7(th) edition). A level of reasonable doubt remains regarding the distinct histogenetic classification of mitosis as early stage melanoma with regard to their epithelial or melanocytic origin.

["Dangerous" cutaneous polyp. Exophytic cutaneous myxofibrosarcoma]. / "Gefährlicher" kutaner Polyp. Exophytisch wachsendes kutanes Myxofibrosarkom.

Malignant skin tumors are seldom polypoid lesions. Thus lesions presenting as large skin tags, as in this case, may initially not be recognized and treated as a malignancy. Often such protuberant lesions are removed by shave biopsy. Then, as in this case, the clinician is very surprised to receive the diagnosis of myxofibrosarcoma (MFS). This case shows how important it is to further investigate a common tumor, like a large skin tag, when its clinical appearance is unusual. Myxofibrosarcoma or myxoid malignant fibrous histiocytoma is one of the common, perhaps most common, sarcoma in adults. Clinical presentation as a large skin tag is extremely uncommon. The rapid growth of the polypoid sarcoma indicates the need for completely operative removal. The behavior of the MFS depends on the degree of malignancy, depending on the tumor size, depth of penetration and local control. While smaller dermal or subcutaneous localized MFS hold potentially a risk of recurrence, do larger examples with a high tumor grade and seated in the deep soft tissue posses a variable metastatic potential. Despite large variability of cell number, cellular atypia and the numbers of mitotic figures all myxofibrosarcoma have in common the multinodular structure with incomplete septa, the mucinous stroma and curvilinear fine vessels.

FGFR3 and PIK3CA mutations in stucco keratosis and dermatosis papulosa nigra.

BACKGROUND: Stucco keratosis (STK) and dermatosis papulosa nigra (DPN) are referred to as variants of seborrhoeic keratosis. However, the genetic alterations involved in the pathogenesis of these benign tumours are unknown. OBJECTIVES: Because FGFR3 and PIK3CA mutations have been reported to be involved in the pathogenesis of seborrhoeic keratosis, we analysed whether these mutations are also present in STK and DPN. Methods A SNaPshot multiplex assay was used for analysis of 11 previously described FGFR3 hotspot mutations. PIK3CA mutations were analysed by a SNaPshot assay covering five PIK3CA hotspot mutations. RESULTS: Five STK and two DPN samples were analysed. Three of five STK samples revealed a PIK3CA mutation (E542K, E545K), but no FGFR3 mutation was found. In contrast, both DPN samples harboured an FGFR3 mutation (R248C, S249C) but no PIK3CA mutation. Control tissues available for three samples did not show PIK3CA or FGFR3 mutations, excluding germline mutations and indicating a strong genotype-phenotype correlation between the mutation and the lesion. CONCLUSIONS: These results indicate that FGFR3 and PIK3CA mutations are involved in the pathogenesis of STK and DPN. The molecular genetic findings furthermore support the concept that both skin lesions are specific variants of seborrhoeic keratosis, sharing a common genetic background.

[Epithelioid sarcoma: morphologic variants and differential diagnosis]. / Epitheloides Sarkom : Morphologische Varianten und Abgrenzung zu Neoplasien anderer Differenzierungsrichtungen.

Epithelioid sarcoma represents a rare sarcoma with a poor long-term prognosis that arises predominantly on the distal extremities of young adult patients, often mimicking a benign, non-neoplastic condition. Histologically, epithelioid sarcoma is characterized by a multinodular growth with central necrosis, and the neoplasms are composed of relatively uniform epithelioid tumour cells showing a coexpression of vimentin, epithelial membrane antigen and pancytokeratin, and in about half of the cases of CD34. Interestingly, most cases of epithelioid sarcoma show a loss of INI1, whereas the inactivation of the tumour suppressor gene SMARCB1/INI1 is only rarely caused by mutation. The proximal variant of epithelioid sarcoma is composed of confluent sheets of enlarged epithelioid and rhabdoid tumour cells and represents the morphological progression of this entity. The fibroma-like variant of epithelioid sarcoma as well as the angiomatoid and myxoid variants of epithelioid sarcoma are rare morphological variants and need to be considered in the differential diagnosis of other benign and malignant neoplasms.

[Spindle cell rhabdomyosarcoma in adults: a new entity in the spectrum of malignant mesenchymal tumors of soft tissues]. / Spindelzelliges Rhabdomyosarkom des Erwachsenen : Eine neue Entität im Spektrum maligner mesenchymaler Tumoren des Weichgewebes.

Rhabdomyosarcomas (RMS) are rare soft tissue sarcomas showing a skeletal muscle differentiation. Histologically, embryonal, alveolar and pleomorphic subtypes are distinguished. RMS represent one of the most frequent sarcomas in children and adolescents, and in this age group embryonal and alveolar subtypes predominate. RMS in adults is extremely rare, and the pleomorphic subtype is most frequently seen. Spindle cell and sclerosing RMS in adults are very rare and, unlike the morphologically comparable tumors in children and adolescents, clinically aggressive neoplasms, which need to be distinguished from spindle cell malignant melanoma, spindle cell sarcomatoid carcinoma and from a number of spindle cell sarcomas of varying lines of differentiation. Spindle cell and sclerosing RMS in adults arise predominantly in the head and neck region and on the extremities, and are composed of atypical spindled cells and scattered rhabdomyoblasts. Since spindle cell RMS may contain areas of lower cellularity with abundant sclerosing stroma, and sclerosing RMS may show focal areas of increased cellularity, it is most likely that both forms represent a morphological spectrum of a single RMS variant.

[Skin tumors as marker lesions for tumor syndromes]. / Hauttumoren als Markerläsionen hereditärer Tumorsyndrome.

A number of hereditary tumor syndromes are associated with characteristic dermal neoplasms and knowledge and early diagnosis of these lesions may facilitate the diagnostic of the underlying syndrome. These syndromes include Muir-Torre syndrome, associated with cystic sebaceomas, Cowden syndrome, associated with multiple tricholemmomas, Carney complex associated with multiple superficial angiomyxomas, Birt-Hogg-Dubé syndrome associated with multiple fibrofolliculomas, tuberous sclerosis associated with multiple facial angiofibromas and so-called Koenen tumors, patients with renal cell cancer associated with pilar leiomyomatosis and uterine leiomyomas, Gardner syndrome associated with Gardner fibromas and nevoid basal cell carcinoma associated with multiple basal cell carcinomas in young patients.