[Clinical relevance of chromosomal aberrations in bone and soft tissue tumors in children and young adults]. / Klinický význam chromozomálních zmen u nádoru kostí a mekkých tkání detí a mladistvých.

BACKGROUND: We present the results of a cytogenetic and molecular cytogenetic analysis of a series of patients with bone and soft tissue tumors. PATIENTS ANDMETHODS: We analyzed a cohort of 26 patients with Ewing sarcoma/PNET, 15 patients with rhabdomyosarcoma, 5 with synovial sarcoma and one patient with an undifferentiated sarcoma using the cytogenetic and molecular cytogenetic techniques M-FISH and arrayCGH. RESULTS: We found nonrandom chromosomal structural and numerical changes with diagnostic and prognostic relevance in most patients. Eight patients with ES/PNET had only a t(11;22)(q24;q12), eight patients had secondary aberrations as well and six had only secondary aberrations. In the RMS patients we detected the t(1;13)(p36;q14) once and the t(2;13)(q35;q14) four times, both of them characteristic for the alveolar subtype with poor prognosis and numerical aberrations, characteristic for the embryonal subtype, in five patients. Four patients with synovial sarcoma had the diagnostic t(X;18)(p11.2;q11.2), one of them had a complex karyotype with a complex t(X;18;21) (p11.2;q11.2;q11.2) together with t(2;5)(q24-32;p13-14) and t(12;20)(p11;q13). We correlated the karyotype of cancer cells with histopathologic morphologic analysis, clinical outcome and foreign published results. CONCLUSION: Cytogenetic and molecular cytogenetic analysis is a valuable diagnostic tool in bone and soft tissue tumors, especially in less differentiated subtypes, and as such it should be an integral part of curative care.

[Radical surgery and intensive chemotherapy are necessary for successful treatment of osteosarcoma]. / Radikální operacní výkon a intenzivní chemoterapie jsou podmínkou úspesné lécby osteosarkomu.

BACKGROUND: We evaluated the therapeutic results in 44 patients (17 girls and 27 boys) with osteosarcoma from 1997 to 2006.Their average age was 12.8 years (2.5-20.2). 41 patients had localised disease and 3 had primary metastases. PATIENTS AND METHODS: We treated our 44 patients using CCG 7921 POG 9351 INT 0133, the therapeutic protocol of the North American cooperative Children's Oncology Group.The median of the follow up was 5.5 years (2-11 years). RESULTS: 40 patients went into complete remission. 19 patients suffered relapses. Of these, 17 patients died - 15 progressed, 1 died due to treatment-related toxicity, 1 died due to secondary acute myeloid leukaemia. As a whole, the patients had a 5-year overall survival rate (OS) of 58.4% and a 5-year event free survival rate (EFS) of 46.7%. The patients with localised extremity osteosarcoma (n = 40) had a 5-year EFS rate of 51%. The patients with good histological response (n = 22) had a 5-year EFS rate of 63.6%, while patients with poor histological response (n = 18) achieved a 5-year EFS rate of 30.5% (p = 0.009). CONCLUSION: The results of treatment of patients with localised extremity osteosarcoma and patients with good histological response to preoperative treatment were very good. The prognosis of patients with axial localisation and metastatic involvement was poor.

[Ewing's sarcoma in children--current surgical treatment options, evaluation of our patients]. / Ewinguv sarkom u detí--moznosti soucasné chirurgické terapie, zhodnocení naseho souboru pacientu.

PURPOSE OF THE STUDY: Neoplastic diseases continue to arouse much concern in the general population. This also applies to bone tumors. Until recently, these neoplasms, most frequently occurring in children and adolescents, were considered to have the worst possible prognosis with a minimal opportunity for a successful outcome of treatment. This is a likely reason for the still deeply rooted belief that amputation of the affected limb is necessary and disease prognosis is uncertain, which also applies to Ewing's sarcoma. Only lately could these patients be offered a hope of successful treatment including limb salvage. MATERIAL: In the period from 1984 to mid-2003, 78 patients with Ewing's sarcoma were treated in our department. Their age ranged from 3 to 25 years, with the maximum occurrence between 13 and 17 years. We performed 27 reconstructions, 13 amputations or exarticulations and 24 resections without replacements. In 13 patients, the procedure was restricted to diagnostic biopsy only, because the tumor was inoperable. METHODS: The diagnosis was made on the basis of diagnostic biopsy and, subsequently, neoadjuvant chemotherapy was administered. When this resulted in tumor regression, definitive surgery was performed, involving tumor resection and bone replacement either with autograft or allograft, or with an individual prosthesis. When an implant was not necessary for maintaining limb function, a simple resection was carried out. In the patients in whom the tumor failed to regress, amputation or exarticulation was inevitable. Inoperable tumors were managed by megadose chemotherapy and by radiotherapy. The patients after orthopedic surgery receive adjuvant therapy, including bone marrow transplantation in indicated cases. RESULTS: The evaluation of our 78 patients showed that patient survival is not related to the surgical procedure used. In patients with an early diagnosis and a positive response of the tumor to chemotherapy, the reconstruction procedure appeared to be sufficiently radical in terms of cancer control while preserving limb function; these patients showed neither a significant increase in disease recurrence nor metastatic dissemination. Similar outcomes were also recorded in patients with a simple resection. However, amputation and exarticulation cannot completely be avoided and they are necessary in the patients whose tumor failed to respond to chemotherapy or in whom radical removal of the tumor is not possible. The poorest outcome was recorded in the patients with inoperable tumors, in whom it was not possible to carry out a radical orthopedic operation. The time between the onset of pain and initiation of therapy is also an important factor affecting the treatment outcome. Complications of reconstructive surgery for Ewing's sarcoma recorded in our patient group included osteomyelitis and graft fracture in addition to relapse and metastatic dissemination followed by death. DISCUSSION: Reconstructive surgery for Ewing's sarcoma is carried out in our department in patients with a confirmed diagnosis, in whom neoadjuvant therapy has resulted in tumor regression and in whom the extent and site of a tumor permit this sort of procedure. If this is not possible, limb amputation is indicated. If amputation is not possible due to tumor localization, megadose chemotherapy is administered. The results of long-term survival evaluation of our patients undergoing resection and replacement show that the procedure has been sufficiently radical, because no local recurrence or metastatic dissemination followed by death were recorded. Disease recurrence, death, graft osteomyelitis and fracture of a graft inclusive of osteosynthetic material are the complications reported. CONCLUSIONS: This study evaluated the current techniques of treating Ewing's sarcoma, with emphasis on reconstructive surgery leading to limb salvation and maintenance of its full function. The importance of this approach is obvious when we realize that the patients are mostly children and adolescents.

[Arthroscopy of the knee joint in childhood]. / Artroskopie kolenního kloubu u pacientu detského veku v nasem souboru.

PURPOSE OF THE STUDY: Arthroscopy is generally regarded as a method suitable exclusively for the treatment of adult patients and only occasionally used in children as a diagnostic tool. Since the number of arthroscopic procedures has considerably increased in recent years, we decided to evaluate the knee arthroscopies performed in pediatric patients, focusing on a correlation between the preoperative diagnosis and arthroscopic findings. MATERIAL AND METHODS: The clinical records on 319 arthroscopic procedures in 311 children treated at our Department between 1995 and 2002 were retrospectively analyzed. The procedures were evaluated in view of the diagnosis established before surgery and that confirmed by arthroscopy. The patients were placed in two groups: preadolescents (younger than 13 years) and adolescents (13 to 18 years old). All patients were treated by the standard arthroscopic procedure. Except for two patients, all children underwent elective surgery of diagnostic or therapeutic reasons. RESULTS: Mediopatelar plica was the most frequent pathology and was treated in 26% of the patients. Meniscus lesions were found in 35% of all patients, but were more frequent in the adolescent group, in which two thirds of all patients were treated for this condition. The crucial ligaments were affected in 10% of all patients. In 52 patients, no pathology was found on arthroscopic examination. There was no difference in findings between the two groups. DISCUSSION: In some patients, the arthroscopic findings differed from the diagnosis established preoperatively, with the pathological condition being misdiagnosed more often in the adolescent group. The correct diagnosis was confirmed in 81.4%. The findings were negative in 16.4% of the patients, which is in agreement with the literature data. CONCLUSIONS: Based on our experience we conclude that great caution be exercised when making the preoperative diagnosis. The expertise of the diagnosing physician and availability of feedback are emphasized.