Solid-pseudopapillary tumor of the pancreas: its origin revisited.

Solid-pseudopapillary tumor of the pancreas (SPT) has distinctive morphologic and biologic features but an unclear origin. It is classified among the pancreatic epithelial tumors, though many are reported to be negative for cytokeratin. Also unclear are its neuroendocrine differentiation, its capability to express alpha-1-antitrypsin (AAT) and, in view of the tumor's striking prevalence in women, its relationship with the female genital tract. To clarify these issues, the immunoprofiles of 59 SPTs were defined by applying a battery of antibodies against cytokeratin, vimentin, neuron-specific enolase (NSE), synaptophysin, chromogranin A, tyrosine hydroxylase (TH), AAT, LeuM1, Ki-M1P, smooth-muscle actin, CD34, alpha-inhibin, calretinin, placental alkaline phosphatase (PLAP), and progesterone and estrogen receptors. The most consistent markers with the strongest immunoreactivity were vimentin, AAT, NSE, and the progesterone receptor, which were each found in more than 90% of the tumors. Using immunocytochemical methods involving antigen retrieval, cytokeratin was demonstrated in almost 70% of the cases. Synaptophysin was found in 22% of the tumors, while chromogranin was absent and tyrosine hydroxylase was only present in a few tumors. None of the other markers tested were expressed by SPTs. This staining pattern fails to reveal a clear phenotypic relationship with any of the defined cell lineages of the pancreas. In view of the striking female preponderance of SPTs and the known close approximation of the genital ridges to the pancreatic anlage during embryogenesis, it is, however, hypothesized that SPTs might derive from genital ridge/ovarian anlage-related cells, which were attached to the pancreatic tissue during early embryogenesis.

Interphase cytogenetics on paraffin sections of paediatric extragonadal yolk sac tumours.

Germ cell tumours in children are more often extragonadal than in adults and the most frequent type is the yolk sac tumour. Limited cytogenetic data exist on extragonadal yolk sac tumours in children. We applied in situ hybridization (ISH) to interphase cell nuclei of four paediatric extragonadal pure yolk sac tumours and one yolk sac tumour component of a mixed germ cell tumour using paraffin-embedded tissue sections. The panel of chromosome-specific DNA probes was selected on the basis of their relevance in adult germ cell tumours and consisted of five DNA probes specific for the (peri)centromeric regions of chromosomes 1, 8, 12, and/or 17, X and/or one DNA probe specific for the subtelomeric region of chromosome 1 (p36.3). Only one tumour failed to show numerical and structural chromosome aberrations with the DNA probes used. The other four had an increased incidence of numerical chromosome aberrations with an over-representation of at least one chromosome. The DNA indices determined in the paraffin-embedded tumour material correlated well with the in situ hybridization findings. In only a few cases were chromosomes over-represented, when compared with the corresponding DNA indices. Recently, we have shown that the short arm of chromosome 1 is a non-random site of deletion in paediatric gonadal pure yolk sac tumours. The occurrence of similar deletions in one extragonadal pure yolk sac tumour and in one yolk sac tumour component, in conjunction with two further ISH reports, suggests that the loss of gene(s) in this region is an important event in the pathogenesis of paediatric malignant germ cell tumours of nearly all sites.

Temporary remission of an alveolar rhabdomyosarcoma diagnosed and treated as acute leukemia.

A 29-year-old man with alveolar rhabdomyosarcoma was considered to be suffering from acute leukemia. A bone marrow aspirate had revealed extensive infiltration by atypical blast-like cells which were interpreted as acute lymphoblastic leukemia. Although there was no confirmation of this diagnosis by immunophenotyping chemotherapy with a protocol suited for the treatment of acute lymphoblastic leukemia was started prior to histological analysis and resulted in a complete temporary remission after the first cycle. Histological analysis of a bone marrow biopsy revealed an alveolar rhabdomyosarcoma, as further confirmed by molecular genetic analysis. Two months after the end of chemotherapy, there was an extensive recurrence and the patient died one year after initial diagnosis with chemotherapy refractory disease. In conclusion, rhabdomyosarcoma should always be included in the differential diagnosis of systemic diseases with extensive bone marrow infiltration by tumor cells which could otherwise be misinterpreted as a haematological malignancy.

Immature teratomas of childhood. Report of 21 cases.

The benign or malignant nature and the biological behaviour of immature teratomas of childhood are difficult to predict. The age of the patient at diagnosis, the anatomical site of the tumour and the degree of immaturity are considered to be important prognostic parameters. In this study the pathological-anatomical findings and the most important clinical features of 21 patients with immature teratoma (including two with supposedly malignant monodermal teratoma with immature neuroectodermal structures) were evaluated. Significant results were: Twelve tumours occurred in infancy or infants who died in the perinatal period, the other nine tumours in children between the ages of 7 and 16 years. The most frequent anatomical sites were the ovary (6 tumours), sacrococcygeal region (4), testis (4) and mediastinum (3). In contrast to most of the tumours of other localizations, immature ovarian teratomas did not occur in children under 7 years of age (in four cases in association with gliomatosis peritonei). The immature tissue components of the tumours were mostly neuroectodermal structures. Eight tumour specimens showed grade 1, four grade 2 and nine grade 3 malignancy. Grade 3 tridermal teratomas chiefly occurred in young children, whereas two grade 3 monodermal tumours developed in older children. Immunohistochemical analysis of the neuroectodermal components showed that mature astrocytes contained glial fibrillary acid protein, whereas mature nerve cells, nerve fibres and a few groups of immature cells reacted with an antibody to neuron-specific enolase. Six of the 21 patients died; two were stillborn immature infants, two were premature infants, one died postoperatively and one died of metastatic disease. One patient with metastatic disease was alive. None of the 19 children with tridermal immature teratoma showed distant metastases. Metastatic disease was observed in only two patients with presumptive monodermal malignant teratoma. In early childhood the biological behaviour of immature teratomas is evidently similar to that of mature teratomas (provided that the tumour can be totally excised). In older children malignancy must be assumed when the tumour is located in the ovary and/or grade 3 immaturity is determined.

Gliomatosis peritonei in childhood and adolescence. Clinicopathological study of 13 cases including immunohistochemical findings.

Gliomatosis peritonei (GP) can be defined as the metastatic implantation of neural tumor tissue on surfaces of the peritoneum in patients with immature ovarian teratomas. Data from 13 patients with GP were evaluated. The average age at time of biopsy was 11 years (median: 11.5 years; range: 2.9 to 18.6 years); average time of follow-up was 26.6 months (median: 22 months; range: 4 to 77 months). In 11/13 patients the GP was discovered at the same time as the primary tumor, in two patients it was detected at second-look surgery. Degree of maturity according to scheme of Robboy and Scully was 8 x G 1, 4 x G 2, and 1 x G 3 for the ovarian teratomas (x = 1.46), and 11 x G 0 and 2 x G 3 for the GP implants (x = 0.46). Light microscopically, the mature glial nodules consisted almost exclusively of GFAP and S-100 protein positive astroglia. Twelve of the 13 patients are alive and clinically healthy. One patient with metachronic immature GP is receiving chemotherapy. In general, the prognosis for GP is good: it depends chiefly on the degree of maturity of the implants. In mature GP, usually no additional chemotherapy is necessary; in immature GP, chemotherapy can induce maturation of the implants.

Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids.

A new case of Fraser syndrome with abnormalities of the genital, urinary and skeletal system is reported. The female newborn died shortly after birth. In contrast to cases of Fraser syndrome reported earlier and to widely accepted theories of eye development the present case presented with normal bilateral eyelids although no tissue of ophthalmic origin was found in the orbital cavities on histological examination.

Primary papillary carcinoma of the thyroglossal duct: case report and review of the literature.

Primary malignancies of the thyroglossal duct are rare. Around 150 cases are described in the world literature, most of them being papillary thyroid carcinomas. Other types of tumors are squamous cell carcinomas, mixed follicular-papillary carcinomas, or adenocarcinomas. Women are affected more often than men, the ratio being 2:1. Preoperative diagnosis of primary malignancies of the thyroglossal duct is uncommon. Initial treatment of primary malignancies of the thyroglossal duct is usually sufficiently done operatively by the so-called Sistrunk's procedure which, however, was first described in 1893 by Schlange. Some patients may need further treatment such as wider excision, thyroidectomy, radioiodine therapy, or neck dissection. In this report the case of a papillary carcinoma of the thyroglossal duct in a 63-year-old man is presented. It is intended to remind the reader of this pathology which is often forgotten because of its rarity. The problems that occur during the process of evaluation regarding ideal treatment of the individual case are discussed. The literature is reviewed.

Metastasizing malignant oncocytoma of the submandibular gland.

Malignant oncocytomas are extremely rare tumours of the salivary glands. Fewer than 50 cases have been reported in the world literature so far, 34 of which were located in the parotid gland. Only three of these tumours have been located in the submandibular gland. We report one further case of a malignant oncocytoma of the submandibular gland in a 47-year-old man. Since a definite histological diagnosis of malignant oncocytoma can rarely be made both clinical and histopathological findings are essential in establishing the diagnosis. Treatment consists of wide surgical excision, neck dissection and post-operative radiotherapy. The prognosis with regard to five-year survival is poor because of metastatic disease.

Cemento-ossifying fibroma of the petromastoid region: case report and review of the literature.

The cemento-ossifying fibroma (COF) is a mesodermal, non-odontogenic tumour of ectopic multipotential periodontal membrane blast cells. It is aggressive, locally destructive, and has a high recurrence rate. A case report of COF of the petromastoid region is presented. This location has not been described until now. Trauma may act as a trigger to sudden growth of the atopic periodontal tissue. Due to the aggressive behaviour of this tumour and its frequent recurrence radical surgery is needed.

Germ cell tumours of childhood. Report of 170 cases including 59 pure and partial yolk-sac tumours.

170 germ cell tumours of childhood and adolescence were studied by light microscopy and immunohistochemistry. The male-to-female ratio was 1:1.3. 52 (30.6%) tumours were benign (mature teratoma), 30 (17.6%) potentially malignant (immature teratoma), and 88 (51.8%) unequivocally malignant. The main locations were ovary, testis and sacrococcygeal region. 92 tumours were located in a gonad, 78 tumours in extragonadal sites (ratio: 1.2:1). Of the frankly malignant tumours 40 were yolk-sac tumours (YST) and an additional 19 tumours of more than one histological type contained a YST component. Therefore, 67% of the malignant tumours had a YST component. Children with immature teratoma and pure YST showed the lowest median age (5 and 24 months, respectively), while children with germinomas of various locations had the highest median age (153 months). A festoon pattern was the predominant histological feature in all YST and in the YST component of mixed germ cell tumours. Hyaline globules were found in 33/37 YST and in 16/17 YST components. Immunohistochemically, alpha 1-fetoprotein (AFP) was demonstrated in 18/22 YST and in 6/7 YST components of mixed germ cell tumours. Hyaline globules were mostly AFP-negative (only 5 cases with AFP-positive globules in addition to many AFP-negative globules). In 3 cases beta-HCG-positive giant cells were seen. In most YST prekeratin intermediate filaments could be demonstrated in the epithelial cells. Follow-up data, available from 51 cases of YST and tumours with YST components showed disease-free survival in 37 cases (72.5%). 10 patients (19.6%) died of disease, and 4 patients (7.8%) are living with disease. The comparably high rate of survivors reflects the effectiveness of modern therapy, particularly polychemotherapy, in addition to surgery.

[Pathological anatomy of germ cell tumors (especially testicular tumors) in children]. / Pathologische Anatomie der Keimzelltumoren (besonders Hodentumoren) bei Kindern.

Germ cell tumors are rare in childhood. They are localized - in decreasing frequency - in the sacrococcygeal area, in the ovary, in the mediastinum, in the testis and elsewhere. Seminoma, dysgerminoma, teratoma and yolk sac tumors are "real" germ cell tumors. As to classification of germ cell tumors of all localizations the (modified) schemes of Pugh and Cameron (1976) and of the WHO (Mostofi) and Sobin, 1977) are suitable. The tumors should be classified according to both systems. Morphology and biological behaviour including prognosis of the germ cell tumors depend heavily upon patient's age at diagnosis and tumor localization. 92 germ cell tumors were already examined and analyzed in the childhood tumor registry, comprising (due to selection) 55 malignant tumors (17 of the ovary, 16 of the testis). In the testes of children yolk sac tumors and differentiated teratomas are seen most frequently with maximum age peak in infancy and early childhood. Starting in or after puberty malignant teratomas of the testis do occur. Paratesticular tumors (especially rhabdomyosarcomas) are more common (in relative and absolute numbers) in childhood as compared to adults.

[Epithelioid sarcoma of the parotid region]. / Epitheloides Sarkom der Parotisregion.

BACKGROUND: Epithelioid sarcoma has been described in 1970 by Enzinger as a separate tumor entity. It is a rare soft-tissue tumor mostly found in the distal extremities in young adults. The head and neck region is only very infrequently affected. PATIENT AND RESULT: We report the rare case of a manifestation of an epithelioid sarcoma in the area of the right parotid gland in a 72-year-old patient. Only two more cases with a similar tumor entity and location have been described in the international literature. The patient underwent total parotidectomy, radical neck dissection, and postoperative radiotherapy two years ago and has been free of recurrence since then. CONCLUSIONS: Epithelioid sarcomas of the head and neck are very rare tumors. They are treated by radical local tumor removal, neck dissection, and postoperative radiotherapy. Prolonged postoperative follow-up is necessary since recurrences can occur after up to more than 15 years.

[Differential diagnosis of granulomatous diseases--epithelioid cell granuloma in the intestine and liver in Crohn disease?]. / Differentialdiagnose granulomatöser Erkrankungen--Epitheloidzellgranulome im Darm und in der Leber bei Morbus Crohn?

Extraintestinal manifestations of Crohn's disease include a number of inflammatory diseases. The clinical activity of these associated diseases may in some cases parallel that of the intestinal inflammation. The activity of extraintestinal manifestations may however be paramount. A cause and effect relationship has not been shown for extraintestinal manifestations such as eye involvement, arthritis and accompanying hepatitis. The histological changes of extraintestinal manifestations consists of noncaseating granulomas that are difficult to distinguish from granulomas occurring in other systemic inflammatory diseases. This report is on a female patient with lower abdominal pain, fatigue, night-sweat, weight loss, episcleritis and diarrhea without blood and slime. Noncaseating granulomas were found in the colon and liver, but not in the lung. The differential diagnosis between the extrapulmonary manifestation of sarcoidosis and a generalized Crohn's disease is discussed. Hypocalcemia, large bowel involvement and missing histological changes in lung tissue rather support the diagnosis of Crohn's disease, particularly because the high CD4/CD8-quotient found in the bronchial lavage is not only characteristic for sarcoidosis but also found in Crohn's disease. Abdominal pain, diarrhea, night-sweat, weight loss and inflammation parameters like CRP and anaemia normalized under therapy with prednisone within a couple of months.

[Chondrosarcoma of the larynx]. / Das Chondrosarkom des Kehlkopfes.

BACKGROUND: Manifestation of chondrosarcoma (CS) in the head and neck region is rare but it is the most frequently encountered non-epithelial malignancy of the larynx. Since this tumor entity is frequently neglected, its characteristics including differential diagnosis and therapy will be discussed in the following. PATIENTS: From 1975 to 1995, five cases with CS were diagnosed and treated in the Department of Otorhinolaryngology, Head and Neck Surgery, University of Kiel. RESULTS: The medical history of this five patients (one woman, four men, average age: 71 years) varied from 9 months to 10 years. Three patients had a fixation of the vocal cord; one patient had obviously reduced movement of the vocal cord. Two cases revealed a moderate and three cases a high differentiation in the histological examination. Initially one case was diagnosed as a chondroma. The origin of tumor growth was the cricoid cartilage in four patients and the cartilage of the arytenoid in one patient. Surgical treatment was either by partial or complete laryngectomy in two cases each. One patient refused any therapy. Two patients including the latter died of tumor related causes. CONCLUSIONS: Laryngeal CS grow slowly. Diagnosis is frequently made late in the course of disease. Obtaining of tissue for histological examination and diagnostic delimitation towards a chondroma can be difficult. Therapy depends on the degree of histological differentiation with radical excision of low or moderately differentiated CS and function preserving surgery in case of high differentiation.

[Pigmented villonodular synovitis of the shoulder joint in childhood]. / Pigmentierte villonoduläre Synovitis des Schultergelenkes im Kindesalter.

A case of a 5-year-old boy with a pigmented villonodular synovitis of the shoulder is described in this article for the first time. The clinical features, preoperative diagnostic imaging including MRI and treatment were explained and compared with the literature.

[Embryonal malformation following etretinate therapy of Darier's disease in the mother]. / Embryonale Fehlbildung bei Etretinat-Therapie der Mutter wegen Morbus Darier.

A 22-year-old woman suffering from dyskeratosis follicularis Darier became pregnant 4 months after the last dose of etretinate (Tigason). The pregnancy was terminated in the 10th week because of teratogenic risk. The pathological examination of the fetus revealed severe malformation of the left leg with aplasia of tibia and fibula, as well as hypoplasia of the left femur. This observation emphasises the necessity of effective contraception even after discontinuation of etretinate therapy.

[Alveolar rhabdomyosarcoma presenting as acute leukemia]. / Alveoläres Rhabdomyosarkom unter dem Bild einer akuten Leukämie.

Rhabdomyosarcoma is the most common soft tissue sarcoma in adolescence and childhood, which manifests by the locally destructive growth of the primary tumor or its metastases. We report on a 29-year-old man with an alveolar rhabdomyosarcoma presenting with an unusual leukemia-like picture. On admission, the patient suffered from diffuse bone pain and renal insufficiency. Peripheral blood analysis showed anaemia, thrombocythaemia and blast-like cells. A bone marrow aspirate revealed extensive infiltration by atypical blast-like cells which were interpreted as acute lymphoblastic leukemia. Although confirmation of this diagnosis by immunophenotyping did not succeed chemotherapy was started immediately and led to partial remission. Histologic analysis of a bone marrow biopsy from the iliac crest, however, revealed an extensive solid tumor with alveolar spaces, lined by primitive round cells with positive PAS-reaction in the cytoplasm. Immunostaining demonstrated a positive reaction of the tumor cells for desmin and in a few tumor cells for smooth-muscle-actin. Chromosomal analysis showed a t(2;13) translocation typical for alveolar rhabdomyosarcoma. Although multiple lytic lesions of the skeletal system became evident during the further clinical course, the site of origin of the primary tumor could not be defined retrospectively. In conclusion, rhabdomyosarcoma should be included in the differential diagnosis of systemic diseases with extensive bone marrow infiltration by tumor cells that could otherwise be misinterpreted as a haematologic malignancy.