Anaplastic lymphoma kinase-positive anaplastic large cell lymphoma (ALK+ ALCL) originates from the T-lineage and is marked by rearrangements of the ALK gene. More than 10 fusion partners with the ALK gene are known, with the most common being the t(2;5)(p23;q35) translocation resulting in the NPM1::ALK fusion. In 10% to 20% of the ALK+ ALCL cases, the ALK gene fuses with various other partners. Modern molecular techniques, especially next-generation sequencing (NGS), have eased the identification of ALK gene fusion partners and have allowed in-depth characterization of the T-cell receptor (TCR) repertoire. We devised a real-time quantitative reverse-transcription polymerase chain reaction to measure the expression of the translocated portion of the ALK gene. Fusion partners for the ALK gene were analyzed using rapid amplification of 5'cDNA ends (RACE) method or NGS. TCR immunoprofiling was performed by amplicon NGS. We studied 96 ALK+ ALCL patients. NPM1::ALK fusion gene was observed in 71 patients, ATIC::ALK in 9, and TPM3::ALK in 3. CLTC::ALK, MYH9::ALK, and RNF213::ALK fusions were identified in 2 patients each. We also discovered the TPM4::ALK and SATB1::ALK fusion genes, plus the following 2 previously unidentified ALK+ ALCL fusions: SQSTM1::ALK and CAPRIN1::ALK. High expression of the translocated ALK gene segment was observed in all 93 analyzed samples. TCR testing was conducted on 23 patients with available DNA. In 18 (78%) patients, we discerned at least one (ranging from 1 to 4) clonal TCR rearrangement. In 59% of the patients, clonal TCR beta junctions corresponded with sequences previously observed in both healthy donors and under various pathological conditions. Reverse-transcriptase quantitative detection of ALK expression is a fast and reliable method for both diagnosing and monitoring treatment response in ALK+ ALCL patients, irrespective of the ALK gene translocation. NGS reveals new ALK translocation partners. Both malignant and reactive TCR repertoires in ALK+ ALCL patients are unique and do not consistently occur among different patients.

• MeSH
• adenosintrifosfatasy genetika   MeSH
• anaplastická lymfomová kináza genetika   MeSH
• anaplastický velkobuněčný lymfom * genetika   patologie   MeSH
• jaderné proteiny genetika   MeSH
• lidé MeSH
• proteiny buněčného cyklu genetika   MeSH
• receptory antigenů T-buněk genetika   MeSH
• transkripční faktory genetika   MeSH
• translokace genetická MeSH
• tyrosinkinasové receptory genetika   MeSH
• tyrosinkinasy genetika   MeSH
• ubikvitinligasy * MeSH
• vazebné proteiny DNA v oblastech připojení k matrix * MeSH
• vysoce účinné nukleotidové sekvenování MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Inflammatory rhabdomyoblastic tumor (IRMT) is a rare, recently described skeletal muscle neoplasm of uncertain malignant potential. We report an unusual tumor in the right arm of a 5-year-old boy, which is the first case of a pediatric IRMT. Immunohistochemically, most cells in the tumor were positive for CD163 and CD68 staining. The neoplastic cells themselves showed a skeletal muscle phenotype with a diffuse expression of desmin and a focal expression of myoD1. Mitotic activity was low (1/10 HPF), and no necrosis was observed.

• MeSH
• lidé MeSH
• nádorové biomarkery metabolismus   MeSH
• nádory * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Do 17. století bylo Japonsko téměř výhradně ovlivňováno čínskou lékařskou tradicí. Krátké zkušenosti s evropskou medicínou přerušily v polovině 17. století edikty, jež zemi izolovaly od okolního světa. Díky nizozemské přítomnosti v Nagasaki však někteří z japonských intelektuálů udržovali kontakt se západními lékaři. Právě díky nim se do Japonska postupně rozšířily nejnovější lékařské publikace a učebnice. Tato intelektuální výměna vedla k prudkému nárůstu zájmu o nové objevy a stimulovala rozvoj vědeckého bádání. Lékařství tak hrálo klíčovou roli při následné japonské modernizaci.

Until the 17th century, Japan was almost exclusively influenced by the Chinese medical tradition. A brief experience with European medicine was interrupted in the mid-17th century by edicts that isolated the country from outside world. However, thanks to the Dutch presence in Nagasaki, some Japanese intellectuals maintained contact with Western physicians. Thanks to them, the latest medical publications and textbooks gradually spread to Japan. This intellectual exchange led to a surge of interest in new discoveries and stimulated the development of scientific research. Medicine thus played a crucial role in Japan’s subsequent modernization.

• MeSH
• anatomie dějiny   MeSH
• dějiny 18. století MeSH
• dějiny 19. století MeSH
• dějiny lékařství MeSH
• Check Tag
• dějiny 18. století MeSH
• dějiny 19. století MeSH
• Publikační typ
• historické články MeSH
• Geografické názvy
• Japonsko MeSH

• Publikační typ
• abstrakt z konference MeSH

BACKGROUND: Spitzoid melanocytic lesions represent a heterogeneous group of proliferations with ambiguous and overlapping terminology. The exact distinction of a Spitz nevus from a Spitzoid melanoma can be very difficult or, in some cases, impossible. Among the Spitzoid lesions, there is a lesion termed an atypical Spitz tumour (AST) that has intermediate histopathologic features between those of a Spitz nevus and a Spitzoid melanoma and thus uncertain malignant potential. There are several rare cases of patients with a Spitzoid melanoma initially misdiagnosed as a Spitz nevus or an AST with fatal consequences. It is, therefore, advised to perform a molecular characterization in cases where uncertain skin lesions are presented, as it may provide extended set of information with a possible impact on the treatment options. Furthermore, preventive measures, such as regular physical and skin examinations, as well as thorough scheduling of individual follow-up visits, are essential in patients with potentially malignant skin nevi. CASE REPORT: We report a case of a young adult female with a history of AST excision with a negative sentinel lymph node biopsy (SLNB) and insufficient follow-up. Four years after the primary dermatological diagnosis, she presented with a giant tumour in the right hemithorax. Radical en bloc resection of the tumour with right pneumonectomy and resection of the pericardium with reconstruction of the pericardium using mesh was performed. A definitive histopathological examination revealed a metastatic melanoma. The association of the previously diagnosed AST and subsequent appearance of melanoma metastases led to a retrospective re-evaluation of the initial lesion. The suspected diagnosis of Spitzoid melanoma, however, was not confirmed. Moreover, the molecular examination revealed a major discordance between the initial lesion and the lung tumour, which most likely excluded the possible association of the lung metastasis with the initial skin lesion. The initial skin lesion was a BRAF-mutant melanoma with Spitzoid features and termed as AST, while the giant lung metastasis was NRAS-mutant melanoma. The subsequent postoperative course was complicated by the appearance of brain metastases that were stereotactically irradiated. Nevertheless, despite complex specialised medical care, the patient's clinical condition rapidly deteriorated. By this time, no active oncological treatment was possible. The patient was delegated to local hospice for palliative care six months after the surgery and died three weeks later. CONCLUSIONS: Our patient was surgically treated at the age of 20 for AST and died four years later of metastatic NRAS-mutant melanoma most likely of different occult origin. Molecular characterization, as well as the close clinical follow-up should be always precisely performed in patients with uncertain skin lesions, such as AST.

• MeSH
• epiteloidní a vřetenobuněčný névus genetika   patologie   MeSH
• GTP-fosfohydrolasy genetika   MeSH
• lidé MeSH
• melanom genetika   sekundární   MeSH
• membránové proteiny genetika   MeSH
• mladý dospělý MeSH
• mnohočetné primární nádory genetika   patologie   MeSH
• mutace MeSH
• nádory kůže genetika   patologie   sekundární   MeSH
• nádory plic sekundární   MeSH
• protoonkogenní proteiny B-raf genetika   MeSH
• Check Tag
• lidé MeSH
• mladý dospělý MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

• Publikační typ
• abstrakt z konference MeSH

PURPOSE: Analysis of surgical management and survival of pediatric patients with gastric tumors treated at our institution. METHODS: A retrospective study of patients with primary gastric tumors treated between 1993 and 2018 was conducted. RESULTS: Eight patients, five girls and three boys, were diagnosed with gastric tumors at an average age of 10.4 years (1 day-15.4 years). Surgical management included Billroth type I procedure in five and tumor excision in three patients. Histology revealed gastrointestinal stromal tumor (GIST) in four patients and one of each of schwannoma, myofibroblastic tumor, hamartoma and teratoma. Microscopically clear margins were reported in six patients. Repeated local recurrence occurred in three patients (2 × GIST, 1 × myofibroblastic tumors) who consequently underwent three, four and six reoperations. One of these patients had liver metastases, which were managed with ligation of the hepatic arteries. This patient was also diagnosed with a lung hamartoma, which was treated with a lobectomy. Survival rate was 100% with a median follow-up of 8.6 years (7 months-25.5 years). CONCLUSIONS: Gastric tumors are rare in children and represent a management challenge. Repeated recurrence of GISTs and myofibroblastic tumors remains frequent even after complete resection and may necessitate multiple surgeries, therefore patients require a lifelong follow-up.

• MeSH
• analýza přežití MeSH
• dítě MeSH
• gastrektomie metody   MeSH
• gastrointestinální nádory patologie   chirurgie   MeSH
• hamartom patologie   chirurgie   MeSH
• kojenec MeSH
• lidé MeSH
• lokální recidiva nádoru chirurgie   MeSH
• mladiství MeSH
• nádory ze svalové tkáně patologie   chirurgie   MeSH
• neurilemom patologie   chirurgie   MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• retrospektivní studie MeSH
• teratom patologie   chirurgie   MeSH
• výsledek terapie MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Aberrant regulation of the cell cycle is a typical feature of all forms of cancer. In head and neck squamous cell carcinoma (HNSCC), it is often associated with the overexpression of cyclin D1 (CCND1). However, it remains unclear how CCND1 expression changes between tumor and normal tissues and whether human papillomavirus (HPV) affects differential CCND1 expression. Here, we evaluated the expression of D-type cyclins in a cohort of 94 HNSCC patients of which 82 were subjected to whole genome expression profiling of primary tumors and paired normal mucosa. Comparative analysis of paired samples showed that CCND1 was upregulated in 18% of HNSCC tumors. Counterintuitively, CCND1 was downregulated in 23% of carcinomas, more frequently in HPV-positive samples. There was no correlation between the change in D-type cyclin expression and patient survival. Intriguingly, among the tumors with downregulated CCND1, one-third showed an increase in cyclin D2 (CCND2) expression. On the other hand, one-third of tumors with upregulated CCND1 showed a decrease in CCND2. Collectively, we have shown that CCND1 was frequently downregulated in HNSCC tumors. Furthermore, regardless of the HPV status, our data suggested that a change in CCND1 expression was alleviated by a compensatory change in CCND2 expression.

• Publikační typ
• časopisecké články MeSH

• MeSH
• analýza přežití MeSH
• autologní transplantace MeSH
• doba přežití bez progrese choroby MeSH
• dospělí MeSH
• indukce remise metody   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfom z plášťových buněk mortalita   terapie   MeSH
• protokoly antitumorózní kombinované chemoterapie terapeutické užití   MeSH
• rituximab terapeutické užití   MeSH
• senioři MeSH
• transplantace hematopoetických kmenových buněk MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• dopisy MeSH
• klinické zkoušky MeSH
• práce podpořená grantem MeSH

AIM OF STUDY: Duodenum-preserving resection of the pancreatic head (DPRPH) with Roux-en-Y pancreatojejunostomy is a procedure used to remove focal pathological lesions of the pancreatic head. Although predominantly used in adult patients, it is both safe and effective in children. The aim of this study was to review our experience with this procedure, with focus on its indications, complications and long-term outcomes. METHODS: A retrospective analysis of pediatric patients who underwent DPRPH between 1994 and 2015 was performed. Patient files were reviewed for demographic, diagnostic, operative and histological details, postoperative complications. Patients were contacted telephonically and sent questionnaires to determine long-term outcomes. RESULTS: The study cohort consists of 21 patients, 14 girls and 7 boys, with an average age of 11.72 years (range 3 months to 18.6 years), who underwent DPRPH with end-to-end anastomosis of the jejunum to the pancreatic body (Roux-en-Y anastomosis). In four cases the head and also part of the body of the pancreas was resected. In the remaining 17 cases, only the head of the pancreas was resected. Indications for DPRPH were solid pseudopapillary tumor of the pancreas (n = 10), trauma (n = 8), pancreas divisum (n = 1), focal congenital hyperinsulinism (n = 1) and pancreatic cyst (n = 1). The length of follow-up ranged from 1 to 22 years (average 9.66). One patient developed a biliary fistula, which closed spontaneously within 2 weeks after stent insertion. A recurrence of abdominal pain was reported in two patients, occurring at 7 months after the operation in one patient and at 1 year in the other. Pancreatic endocrine insufficiency did not occur in any of the 21 patients. Seven patients currently require a low fat diet, five of which need pancreatic enzyme supplementation. An additional two patients need enzyme supplementation without dietary restriction. CONCLUSION: DPRPH is a safe and effective procedure for the treatment of large focal pathological lesions of the pancreatic head in children. As a less invasive procedure than pancreatoduodenectomy, it is more appropriate for the developing child.

• MeSH
• časové faktory MeSH
• dítě MeSH
• duodenum chirurgie   MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• nádory slinivky břišní chirurgie   MeSH
• následné studie MeSH
• pankreas chirurgie   MeSH
• pankreatektomie metody   MeSH
• pankreatikojejunostomie metody   MeSH
• pooperační komplikace prevence a kontrola   MeSH
• předškolní dítě MeSH
• retrospektivní studie MeSH
• Rouxova Y-anastomóza metody   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH