Sentinel lymph-node biopsy in head and neck cancer.

The aim of the study was to assess the diagnostic value of the sentinel node method in patients suffering from squamous cell carcinoma of the upper aerodigestive tract. In 50 patients with oral, pharyngeal or laryngeal carcinomas staged N0 up to 50 MBq technetium-99m colloid were injected peritumorally. Sentinel nodes were localised using a gamma-probe in the setting of an elective neck dissection. Pathological findings of sentinel nodes and corresponding neck specimens were compared. In 46 patients sentinel nodes were detected. Of these 34 patients were free of metastatic disease in the sentinel nodes and in the neck specimens. In 12 patients clinically occult metastases were found in the sentinel nodes. Three metastases were detected only after additional sectioning of the sentinel nodes. In four patients, a sentinel lymph node could not be localised. Our results support the sentinel node concept in head and neck cancer and a definition of the sentinel nodes as the three nodes with the highest activity. Careful clinical staging of the neck and thorough pathological evaluation of the sentinel nodes are necessary to avoid false-negative results.

Oral mature teratoma containing epididymal tissue in a female neonate.

We describe a female neonate with an oral teratoma showing bone, teeth, and epidermis, but also epididymal (male) tissue. PCR amplification of Y-chromosomal DNA clearly showed male DNA from paraffin-embedded tumour tissue. The girl had a normal female karyotype without abnormalities of the genital organs. There are at least three hypotheses for the origin of teratomas: parthenogenesis, incomplete twinning, and totipotent somatic-cell origin. This case supports the hypothesis of an included dizygotic twin, and might contribute to the elucidation of the pathogenesis of extragonadal teratomas.

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.

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.

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.

[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.

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.

[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.

[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.

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.

Detection of chromosome aberrations in paraffin sections of seven gonadal yolk sac tumors of childhood.

Yolk sac tumors are the most frequent kind of malignant pediatric germ cell tumor and may have a fundamentally different pathogenesis than adult germ cell tumors. Since few cytogenetic studies have been performed so far, in situ hybridization was applied to interphase cell nuclei of seven gonadal yolk sac tumors of childhood in routine paraffin-embedded tissue sections. The panel of chromosome-specific DNA probes was selected on the basis of their relevance in adult germ cell tumors and consisted of five DNA probes specific for the (peri)centromeric regions of chromosomes 1, 8, 12, 17 and/or X and/or one DNA probe specific for the subtelomeric region of chromosome 1 (p36.3). As in adult germ cell tumors, all pediatric gonadal yolk sac tumors had an increased incidence of numerical chromosome aberrations. All tumors showed an overrepresentation of at least three chromosomes. Gains of chromosome 12, which is highly specific in adult germ cell tumors, were diagnosed in six pediatric gonadal yolk sac tumors. The DNA indices determined in the paraffin-embedded tumor material correlated well with the in situ hybridization findings. A chromosome was either over- or underrepresented, compared with the corresponding DNA indices, in only a few cases. The short arm of chromosome 1 in adult germ cell tumors is often involved in structural aberrations. In pediatric germ cell tumors, the short arm of chromosome 1 is also a nonrandom site of structural aberrations. Moreover, the presence of a deletion at 1p36.3 in four out of five tumors suggests that the loss of gene(s) in this region is an important event in the pathogenesis of gonadal yolk sac tumors of childhood.

[Lung metastasis after pelviscopic salpingectomy in therapy of tubal pregnancy]. / Lungenmetastasierung nach pelviskopischer Salpingektomie zur Therapie einer Tubargravidität.

UNLABELLED: A 34-year old VI gravida, II para underwent a pelviscopic salpingectomy of the left fallopian tube for treatment of a repeated ectopic pregnancy. Histology revealed an invasive hydatidiform mole. The declining beta-hCG titers after surgery were not further controlled. Seven months later a secondary amenorrhoea occurred again; beta-hCG levels increased steadily. We could not obtain trophoblastic tissue by operative pelvis-copy (excision of the tubal stump on the left side and tubal sterilisation on the right side) nor by curettage of the uterine cave. A lesion of the lung was interpreted as a metastatic lesion following malignant transformation of the invasive hydatidiform mole and disappeared under cytotoxic therapy containing methotrexate with an uneventful follow-up period of now 4 years. RECOMMENDATION: In order not to overlook the presence of persistent trophoblastic tissue and the possible development of a choriocarcinoma, beta-hCG serum titers should be measured until they disappear, following the surgical therapy of an ectopic pregnancy.

[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.

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.