Hamartoma fibroso de la infancia: una serie de 21 casos y revisión de la literatura / Fibrous Hamartoma of Infancy: A Series of 21 Cases and Review of the Literature

Introducción El hamartoma fibroso de la infancia (HFI) es tumor poco frecuente de tejidos blandos en lactantes y niños, caracterizado histopatólogicamente por su morfología trifásica y curso benigno. Métodos Presentamos las características histopatológicas e inmunohistoquímicas de una serie de 21 casos de HFI y revisamos sus principales diagnósticos diferenciales. Resultados Las lesiones predominaron en varones con una edad media de 3,7 años (5 meses-24 años) en localizaciones previamente descritas. Histopatológicamente, se caracterizaron por proporciones variables de tejido fibroblástico, mesenquimal y adiposo maduro. Tres casos (21%) mostraron zonas hialinizadas con artefactos en grietas, que imitaban al fibroblastoma de células gigantes. Presentaron tinción positiva para actina de músculo liso 8/13 (61%) en el componente fibroblástico, CD34 en 6/8 (75%) en el mesenquimal inmaduro y fibroblástico; y S100 en el tejido adiposo en 7/7 (100%). Conclusión Nuestros hallazgos histopatológicos son superponibles a los descritos en series amplias. No obstante, la heterogeneidad clínica obliga a conocer las variantes de esta entidad dentro de su típica histomorfología trifásica, para lograr un correcto diagnóstico y manejo terapéutico (AU)

Background Fibrous hamartoma of infancy (FHI) is a rare soft-tissue tumor usually seen in infants and young children. Histologically, the tumor is characterized by a triphasic morphology, and the clinical course is benign. Methods We described the histopathologic and immunohistochemical features in a series of 21 cases of FHI and reviewed the main entities to consider in differential diagnosis. Results Most patients in the series were male. The mean age was 3.7 years (range, 5 months–24 years), and lesions were found in locations that have been previously reported. Histopathologically, the tumors were composed of variable proportions of fibroblastic, mesenchymal, and mature adipose tissue. Three of the 13 immunohistochemically stained biopsies (14%) contained hyalinized zones with cracking artifacts, mimicking giant cell fibroblastoma. Eight of the 13 stained with smooth-muscle actin (61%) were positive in the fibroblastic component, 6 of the 8 stained with CD34 (75%) were positive in the immature mesenchymal and fibroblastic components, and all 7 stained with S100 were positive (100%) in adipose tissue. Conclusions Our histopathologic findings are consistent with those described in larger series. However, in order to reach a precise diagnosis and plan treatment, clinical heterogeneity obliges us to become familiar with variations in the characteristic triphasic histology of FHI (AU)

[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.

S-100 protein expressing spindle cells in spindle cell lipoma: a diagnostic pitfall.

Spindle cell lipoma represents a distinct clinicopathological entity and is related to cellular angiofibroma and mammary-type myofibroblastoma. Spindle cell lipomas are composed of mature lipogenic cells and a variable number of CD34-positive spindle cells that show loss of retinoblastoma protein expression. Spindle cell lipomas occasionally express S-100 protein. We studied one case of purely dermal spindle cell lipoma and four cases of classical subcutaneous spindle cell lipoma arising in one female and four male patients (age ranged from 55 to 69 years). The neoplasms arose on the nose, the chin, the neck, the forehead and retroauricular, and all lesions had been marginally or incompletely excised. The studied cases showed classical histological and immunohistochemical features of spindle cell lipoma and, in addition, strong expression of S-100 protein by spindle-shaped tumour cells. S-100-expression in spindle cell lipoma may cause problems in the differential diagnosis with neural and melanocytic neoplasms and emphasizes the plasticity of the spindle cells in spindle cell lipoma.

[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.

[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.

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.

[The hidradenocarcinoma of the wrist - an extremely rare malignant carcinoma: case presentation and literature review]. / Das Hidradenokarzinom des Handgelenkes - ein extrem seltener maligner Tumor: Falldarstellung und Literaturübersicht.

Hidradenocarcinomas are rare, yet highly malignant tumors of eccrine sweat gland origin. Due to its locally aggressive growth and likelihood for metastasis it should be considered as a differential diagnosis especially in case of suspicious intraoperative findings. We report the case of a 73-year-old female patient presenting with a hidradenocarcinoma of the wrist. Treatment of hidradenocarcinomas is similar to the treatment of sarcomas: The first step is an incisional biopsy and obtaining an expert second opinion on the histopathological diagnosis as well as staging. The second step is a clear margin resection of the tumor and the plastic-surgical reconstruction. A long-term follow-up is mandatory to detect potential recurrence or metastasis.

Pulmonary leiomyosarcoma mimicking glomus tumor at first biopsy and surgically treated with isolated left main bronchus resection: rare clinical documentation.

Soft tissue tumors originating within the endobronchial tree are extremely rare and most of them correspond to lipomas or leiomyomas. We here report a rare clinical presentation of leiomyosarcoma mimicking glomus tumor at initial biopsy arising from the left main bronchial trunk leading to left lower lobe atelectasis. Primary leiomyosarcoma of the lung is an unusual malignancy. Among this entity, the endobronchial form is very rare and the preoperative diagnosis is extremely difficult. We documented two different presentations and outcomes of primary endobronchial leiomyosarcoma of the lung. In this clinical presentation, histological study and immunohistochemical stain of the surgical resection provided the final diagnosis. Through the following we present the diagnostic and therapeutic difficulties encountered with endobronchial leiomyosarcoma.

["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.

[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.

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.