• MeSH
• DNA nádorová analýza   MeSH
• lidé MeSH
• nádory podle histologického typu MeSH
• nádory prsu patologie   MeSH
• ploidie MeSH
• prognóza MeSH
• staging nádorů MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• srovnávací studie MeSH

Extraneuraxial hemangioblastoma occurs in nervous paraneuraxial structures, somatic tissues, and visceral organs, as part of von Hippel-Lindau disease (VHLD) or in sporadic cases. The VHL gene plausibly plays a key role in the initiation and tumorigenesis of both central nervous system and extraneuraxial hemangioblastoma, therefore, the underlying molecular and genetic mechanisms of the tumor growth are initially reviewed. The clinical criteria for the diagnosis of VHLD are summarized, with emphasis on the distinction of sporadic hemangioblastoma from the form fruste of VHLD (eg, hemangioblastoma-only VHLD). The world literature on the topic of extraneuraxial hemangioblastomas has been comprehensively reviewed with ∼200 cases reported to date: up to 140 paraneuraxial, mostly of proximal spinal nerve roots, and 65 peripheral, 15 of soft tissue, 6 peripheral nerve, 5 bone, and 39 of internal viscera, including 26 renal and 13 nonrenal. A handful of possible yet uncertain cases from older literature are not included in this review. The clinicopathologic features of extraneuraxial hemangioblastoma are selectively presented by anatomic site of origin, and the differential diagnosis is emphasized in these subsets. Reference is made also to 10 of the authors' personal cases of extraneuraxial hemangioblastomas, which include 4 paraneuraxial and 6 peripheral (2 soft tissue hemangioblastoma and 4 renal).

• MeSH
• hemangioblastom diagnóza   patologie   MeSH
• lidé MeSH
• von Hippelova-Lindauova nemoc komplikace   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Less than 250 extraneuraxial hemangioblastomas occurring in paraneuraxial or peripheral sites have been reported to date, sporadically or in the setting of von Hippel-Lindau disease. Seventeen such cases underwent molecular genetic analysis, using either the patient's peripheral blood in 9 cases or paraffin embedded tumor tissue in the rest. VHL gene mutations were documented in 3/9 cases in which DNA from peripheral blood lymphocytes was used, all with clinically manifest von Hippel-Lindau disease; instead, no VHL gene alterations were found in all of the 8 cases with sporadic extraneuraxial hemangioblastoma in which DNA from tumor tissue was analyzed. Our aim is to investigate the molecular genetic profile of the VHL gene in extraneuraxial hemangioblastoma using paraffin embedded tumor tissues. The clinical features, histopathology, and molecular investigations of 10 extraneuraxial hemangioblastomas (7 females, 3 males; median age: 47 years) are presented herein. The histopathologic diagnosis was supported by immunohistochemistry (10/10) and electron microscopy (4/10). Molecular genetic analysis was conducted (10/10) for VHL gene mutations, LOH, and gene promoter methylation. Two of the present cases were already published with only limited or no molecular investigations. Four tumors of the present series were paraneuraxial, and 6 peripheral (2 involved soft tissues, and 4 the kidney). One tumor was von Hippel-Lindau disease-associated, 1 was classified as "hemangioblastoma-only VHLD", 7 were sporadic, and one was unknown. All were histopathologically analogous to their counterpart located inside the central nervous system. Immunophenotypically, all tumors expressed vimentin, S-100, NSE, and alpha-inhibin (10/10). Ultrastructurally, unbound lipid droplets filled the cytoplasms of the stromal cells. Molecular analysis revealed 3 inactivating mutations (1 germline, two somatic) in the coding sequence of the VHL gene in 2 different extraneuraxial hemangioblastomas, and LOH in 4 (two as a double hit), all non-renal extraneuraxial hemangioblastomas. Methylation analysis failed to disclose promoter methylation in any case. In conclusion, we report eight new cases from the wide category of extraneuraxial hemangioblastomas (4 paraneuraxial, and 4 renal), one of which was von Hippel-Lindau disease-associated and 7 sporadic. VHL gene alterations were found not only in the von Hippel-Lindau disease-associated tumor, but - for the first time - also in 3 sporadic ones, two of which with novel mutations.

• MeSH
• dospělí MeSH
• hemangioblastom genetika   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• míšní kořeny patologie   MeSH
• mladý dospělý MeSH
• mutace MeSH
• nádorový supresorový protein VHL genetika   MeSH
• nádory ledvin genetika   patologie   MeSH
• nádory měkkých tkání genetika   patologie   MeSH
• retroperitoneální nádory genetika   patologie   MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• adenom metabolismus   patologie   MeSH
• lidé MeSH
• mnohočetné primární nádory patologie   MeSH
• nádory kůže metabolismus   patologie   MeSH
• nádory potních žláz metabolismus   patologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH

This study characterizes the clinicopathological spectrum of lymphoproliferations involving the breast nipple and/or areola. Morphologic, immunohistochemical, molecular-genetic, and clinical features of 58 specimens from 56 patients were analyzed. They were re-diagnosed as cutaneous lymphoid hyperplasia (CLH, n = 44); other benign lymphoid infiltrates (OBLI, n = 8); peripheral T-cell lymphoma, not otherwise specified (n = 1); cases with overlapping features of CLH and B-cell lymphoma (n = 3), one of them composed of spindle cells. Cutaneous lymphoid hyperplasia infiltrates were dense, composed mainly of B cells forming follicles with germinal centers (GC). Cutaneous lymphoid hyperplasia frequently showed features suggesting a malignancy as coalescing follicles with non-polarized germinal centers lacking mantle zones, and smudged infiltrates of lymphoid cells spreading into collagen (often as "Indian files"), smooth muscle, vessel walls, and nerve sheaths. Only two cutaneous lymphoid hyperplasias recurred; otherwise all patients are without disease (mean follow-up 62 months). Monoclonal rearrangement of immunoglobulin heavy chain gene was detected in five, and of T-cell receptor gamma gene in two cutaneous lymphoid hyperplasias using polymerase chain reaction (PCR), but the patients fared well too. In 47% of cases Borrelia burgdorferi was detected by polymerase chain reaction and/or serology, of which one was monoclonal. We conclude that cutaneous lymphoid hyperplasia is the most common lymphoproliferation of the breast nipple, rarely recognized clinically, and often overdiagnosed histologically as lymphoma.

• MeSH
• Borrelia burgdorferi MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• financování organizované MeSH
• geny TcR gama MeSH
• hyperplazie genetika   mikrobiologie   patologie   MeSH
• imunohistochemie MeSH
• kožní nemoci genetika   mikrobiologie   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymeská nemoc komplikace   MeSH
• lymfom patologie   MeSH
• lymfoproliferativní nemoci genetika   mikrobiologie   patologie   MeSH
• mladiství MeSH
• polymerázová řetězová reakce MeSH
• přestavba genů pro těžké řetězce B-lymfocytů MeSH
• prsní bradavky mikrobiologie   patologie   MeSH
• pseudolymfom genetika   mikrobiologie   patologie   MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH

• MeSH
• nádory hlavy a krku genetika   patologie   MeSH
• Publikační typ
• monografie MeSH

• Konspekt
• Patologie. Klinická medicína
• NLK Obory
• patologie
• neurologie

Pathology and Genetics of Head and Neck Tumours is the latest volume in the new WHO series, on histological and genetic typing of human tumours. This authoritative, concise reference book, provides an international standard for pathologists and oncologists and will serve as an indispensable, guide for use in the design of studies monitoring response to therapy and clinical outcome., Diagnostic criteria, pathological features, and associated genetic alterations are described in a, strictly disease-oriented manner. Sections on all WHO-recognized neoplasms and their variants include new ICD-O codes, incidence, age and sex distribution, location, clinical signs and symptoms, pathology, genetics, and predictive factors. The book, prepared by 130 authors from 28 countries, contains 890 color photographs, X-rays, computed tomography (CT), magnetic resonance (MR) images, charts, and more than 2900 references. This volume covers tumours of the nasal cavity and paranasal sinuses, of the nasopharynx, of the hypophyranyx, larynx and trachea, of the oral cavity and oropharynx, of salivary glands, as well as odontogenetic tumours, tumours of the ear, the paraganglionic system, and inherited tumour syndromes. Each entity is extensively discussed with information on clinicopathological, epidemiological, immunophenotypic and genetic aspects of these diseases.This book is in the series commonly referred to as the \"Blue Book\" series.Pathology and Genetics of Head and Neck TumorsContributors::Dr. Susan L. Abbondanz, Dr. Lucía Alós Dr. Mario Altini, Dr. Paul L. Auclair Dr. Gisle Bang, Dr. Leon Barnes, Dr. Timothy J. Beale, Dr. Franco Bertoni, Dr. Wojciech Biernat, Dr. Paolo Boffetta, Dr. Jerry E. Bouquot, Dr. Margaret S. Brandweingensler, Dr. Robert B. Brannon, Dr. Freddie Bray, Dr. John J. Buchino, Dr. Amos Buchner, Dr. Joseph Califano, Dr. Eduardo Calonje, Dr. Antonio Cardesa, Dr. Roman Carlos, Dr. John K.C. Chan, Dr. Alexander Chak-Lam Chan, Dr. Wah Cheuk, Dr. Michael M.C. Cheung, Dr. Hedley G. Coleman, Dr. Hugh D. Curtin, Dr. Gustave L. Davis, Dr. Vera Cavalcanti De Araujo, Dr. Louis P. Dehner, Dr. Pavel Dulguerov, Dr. Samir K. El Mofty, Dr. Adel K. El-Naggar, Dr. Gary Ellis, Dr. Cosme Ereodr. Lewis Roy Eversole, Dr. John W. Eveson, Dr. Julie C. Fanburg-Smith, Dr. Jacques Ferlay, Dr. Jorge A. Ferreiro, Dr. Isabel Fonseca, Dr. William Foo, Dr. Silvia Franceschi, Dr. Alessandro Franchi, Dr. Henry F. Frierson, Jr, Dr. Nina Galedr Yan Gao, Dr. David G. Gardner, Dr. Douglas R. Gnepp, Dr. Robert K. Goode, Dr. Kristiina Heikinheimo, Dr. Kristin Henry, Dr. Dolly P. Huang, Dr. Jennifer L. Hunt, Dr. Andrew G. Huvos, Dr. K. Thorsten Jäkel, Dr. Wei-Hua Jia, Dr. Newell W. Johnson, Dr. Gernot Jundt, Dr. Silloo B. Kapadia, Dr. Paul Kleihues, Dr. Sakari Knuutila, Dr. Hanna Strømme Koppang, Dr. Tseng-Tong Ku, Dr. Kimihide Kusafuka, Dr. Janez Lamovec, Dr. Constantino Ledesma-Montes, Dr. Anne W.M. Lee, Dr. Jean E. Lewis, Dr. T.J. Li, Dr. Kwok- Wai Lo, Dr. Thomas Loning, Dr. Yong Lu, Dr. Mario A. Luna, Dr. D. Gordon Macdonald, Dr. Peter Mccarron, Dr. Leslie Michaels, Dr. Michal Michal, Dr. Adalberto Mosqueda-Taylor, Dr. Alfons Nadal, Dr. Toshitaka Nagao, Dr. Hiromasa Nikai, Dr. Edward W. Odell, Dr. Kerry D. Olsen, Dr. Bayardo Perez-Ordone, Dr. Hans Peter Philipsen, Dr. Adriano Piattelli, Dr. Ben Z. Pilch, Dr. Finn Praetorius, Dr. Manju L. Prasad, Dr. Kunnambath Ramadas, Dr. Peter A. Reichart, Dr. Kiyoshi Saito, Dr. Ann Sandison, Dr. Marco Santucci, Dr. Patricia A. Schachern, Dr. Stephan Schmid, Dr. James J. Sciubba, Dr. Ratnam K. Shanmugaratnam, Dr. Mervyn Shear, Dr. Masaki Shimono, Dr. Chong Huat Siar, Dr. David Sidransky, Dr. Roderick H.W. Simpson, Dr. Alena Skálová, Dr. Lee J. Slater, Dr. Pieter J. Slootweg, Dr. Jorge Soares, Dr. Leslie Sobin, Dr. Sava Soucek, Dr. Paul M. Speight, Dr. Göran Stenman, Dr. Kai Hua Sun, Dr. Takashi Takata, Dr. Yasunori Takeda, Dr. Lester D.R. Thompson, Dr. Charles E. Tomich, Dr. William Y.W. Tsang, Dr. Loretta L.Y. Tse, Dr. K. Krishnan Unni, Dr. Mark L. Urken, Dr. Isaac Van Der Waal, Dr. Jacqueline E. Van Der Wal, Dr. Bruce M. Wenig, Dr. William H. Westra, Dr. Timothy Tak-Chun Yip, Dr. Yi- Xin Zeng, Dr. Nina Zidar

• Klíčová slova
• maligní nádorová onemocnění, krk, hlava, lékařská genetika,
• MeSH
• lékařská genetika MeSH
• nádory hlavy a krku MeSH
• nádory MeSH
• patologie MeSH