RESUMO
Ankle fractures are the most frequent factures of weight-bearing joints in children while fractures of the hindfoot and midfoot are rare. Metatarsal fractures make up the greatest portion of foot fractures in children and mostly heal uneventfully. Generally, the fracture severity increases with increasing age and the fracture patterns in adolescents resemble those in adults but transitional fractures of the distal tibial epiphysis in adolescents between 12 and 14 years of age are an exception. A subtle clinical and radiographic examination is necessary to detect the injury pattern and to discriminate fractures from accessory bones, juvenile avascular necrosis and apophyses. Computed tomography scanning is most useful to precisely evaluate the degree of injury, especially articular involvement and to allow precise planning of the operative approach. Except for the calcaneus and the metatarsals the bones of the foot and ankle do not display a significant potential for spontaneous correction during growth; therefore, open reduction and internal fixation is indicated in all displaced fractures if closed reduction does not yield a satisfying result in order to avoid relevant post-traumatic deformities.
Assuntos
Traumatismos do Tornozelo/diagnóstico por imagem , Traumatismos do Tornozelo/cirurgia , Traumatismos do Pé/diagnóstico por imagem , Traumatismos do Pé/cirurgia , Fixação Interna de Fraturas/métodos , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/cirurgia , Adolescente , Adulto , Criança , Humanos , Osteotomia/métodos , RadiografiaRESUMO
OBJECTIVE: Evaluation of lung function parameters and additional use of prostaglandin E1 (PGE1) for the stabilisation of cardiopulmonary function in patients with congenital diaphragmatic hernia (CDH) and pulmonary hypertension (PHT). DESIGN: Observational study. PATIENTS: Between 2007 and 2009 8 patients with CDH have been treated in our pediatric intensive care unit (gestational age 34 + 0 - 40 + 4 weeks, birth weight 2 160-3 840 g). All patients required respiratory support. Gentle mechanical ventilation adapted to the degree of pulmonary hypoplasia based on serially measurements of lung function parameters to find appropriate ventilator settings has been performed. MAIN RESULTS: Functional residual capacity (FRC) and compliance of the respiratory system in all patients were markedly reduced. A FRC between 9.3-10.6 ml/kg and compliance between 1.1-1.8 ml/kPa/kg indicated pronounced hypoplasia of the lungs. Doppler flow patterns through the arterial duct were classified into left-to-right, right-to-left and bidirectional shunting and correlated to the degree of PHT. The additional use of PGE1 to reopen the arterial duct and to stabilize right ventricular function led to an amelioration of severe PHT and preoperative stabilisation in 2 newborns with pronounced pulmonary hypoplasia. All patients underwent successful surgery, and did not show any complications after 2 years follow-up. CONCLUSION: Measurements of lung function parameters and adaptation of mechanical ventilation to the degree of pulmonary hypoplasia and additional therapy with PGE1 may help to improve the outcome in CDH patients.
Assuntos
Anormalidades Múltiplas/fisiopatologia , Anormalidades Múltiplas/terapia , Alprostadil/administração & dosagem , Insuficiência Cardíaca/fisiopatologia , Insuficiência Cardíaca/terapia , Hérnias Diafragmáticas Congênitas , Hipertensão Pulmonar/fisiopatologia , Hipertensão Pulmonar/terapia , Doenças do Prematuro/fisiopatologia , Doenças do Prematuro/terapia , Pneumopatias/fisiopatologia , Pneumopatias/terapia , Respiração Artificial , Testes de Função Respiratória , Disfunção Ventricular Direita/fisiopatologia , Disfunção Ventricular Direita/terapia , Algoritmos , Terapia Combinada , Permeabilidade do Canal Arterial/fisiopatologia , Permeabilidade do Canal Arterial/terapia , Ecocardiografia Doppler , Capacidade Residual Funcional/fisiologia , Hemodinâmica/fisiologia , Hérnia Diafragmática/fisiopatologia , Hérnia Diafragmática/terapia , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Pulmão/anormalidades , Pulmão/fisiopatologia , Oxigênio/sangueRESUMO
While complex regional pain syndrome (CRPS) is a well-established entity in adults, its occurrence in children was doubted for a long time. However, in the last few years several case reports and some comparative studies have described CRPS in children and adolescents. In contrast to adults most of the involved children are female, suffering from CRPS after an initial event that is typically a minor trauma. Furthermore, CRPS occurs more frequently in the lower extremity than in the upper extremity when compared to adults. Since neither radiological findings nor laboratory parameters are able to confirm CRPS, the diagnosis is made from a detailed description of the clinical signs and symptoms characterized by a remarkable intra- and inter-individual variability. The treatment concept is comprised of intensive physical therapy, pain management and psychological therapy, physical therapy having the major impact. In spite of a sometimes long and variable clinical course the prognosis in most cases is excellent and usually results in complete functional restoration. Nevertheless, relapses are described in up to 30% and can involve other locations or present in a different fashion regarding clinical symptoms.
Assuntos
Síndromes da Dor Regional Complexa/diagnóstico , Síndromes da Dor Regional Complexa/terapia , Modalidades de Fisioterapia/tendências , Psicoterapia/tendências , Adolescente , Criança , Pré-Escolar , Terapia Combinada/tendências , Feminino , Humanos , Lactente , Recém-Nascido , MasculinoRESUMO
The aim of this study was to detect a parameter for predicting prenatal complications or postnatal surgical options after detecting a fetal exomphalos. This was a retrospective analysis of prenatal diagnosis and outcome of fetuses with 41 cases of exomphalos in between 2007 and 2017, considering the measurement of ratios. The 41 fetuses with exomphalos were examined, 34 cases (82.9%) with karyotyping and 16 cases (39%) with an abnormal karyotype. Outcome of 39 cases showed 6 abortions (15.4%), 15 terminations (38.5%), an intrauterine fetal death (2.5%) and 17 alive babies (43.6%), which were grouped in two: small exomphalos (n = 6, 35.3%) and big exomphalos (n = 11, 64.7%). Maximal diameter of exomphalos/abdomen circumference-ratio (EDmax/AC-ratio) with a cut-off of 0.24 showed a better predictive value of postnatal primary closure. Exomphalos is correlated with abnormal karyotype. EDmax/AC-ratio gives the best prediction for postnatal primary closure of the defect.
Assuntos
Hérnia Umbilical/diagnóstico por imagem , Diagnóstico Pré-Natal , Adulto , Feminino , Hérnia Umbilical/cirurgia , Humanos , Pessoa de Meia-Idade , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Adulto JovemRESUMO
Hirschsprung disease (HSCR) is transmitted in a complex pattern of inheritance and is mostly associated with variants in the RET proto-oncogene. However, RET mutations are only identified in 15-20% of sporadic HSCR cases and solely in 50% of the familial cases. Since genomic rearrangements in particularly sensitive areas of the RET proto-oncogene and/or associated genes may account for the HSCR phenotype in patients without other detectable RET variants, the aim of the present study was to identify rearrangements in the coding sequence of RET as well as in three HSCR-associated genes (ZEB2, EDN3 and GDNF) in HSCR patients by using Multiplex Ligation-dependent Probe Amplification (MLPA). We have screened 80 HSCR patients for genomic rearrangements in RET, ZEB2, EDN3 and GDNF and did not identify any deletion or amplification in these four genes in all patients. We conclude that genomic rearrangements in RET are rare and were not responsible for the HSCR phenotype in individuals without identifiable germline RET variants in our group of patients, yet this possibility cannot be excluded altogether because the confidence to identify variation in at least two percent of the individuals was only 95%.
Assuntos
Endotelina-3/genética , Fator Neurotrófico Derivado de Linhagem de Célula Glial/genética , Doença de Hirschsprung/genética , Proteínas de Homeodomínio/genética , Proteínas Proto-Oncogênicas c-ret/genética , Proteínas Repressoras/genética , Criança , Análise Mutacional de DNA , Alemanha , Humanos , Proto-Oncogene Mas , Homeobox 2 de Ligação a E-box com Dedos de ZincoRESUMO
INTRODUCTION: We aimed to critically evaluate elective preterm delivery and immediate abdominal wall closure and other techniques for the management of gastroschisis, hypothesizing that the advantages of an elective preterm delivery outweigh possible complications related to prematurity at birth. PATIENTS AND METHODS: 13 gastroschisis patients were enrolled in the elective preterm delivery program (Group 1) since 1999. Patients were delivered by cesarean section in the 34th gestational week, with immediate primary closure of the defect. Data regarding parameters at and after birth were compared with a historical control group of 10 patients conventionally managed for gastroschisis in a similar period (1994 - 1999) (Group 2). The primary endpoints of this study were the initiation of oral feeding and the length of hospital stay. RESULTS: There was a significantly faster initiation of oral feeding (p = 0.0012) and a shorter hospital stay (p = 0.0160) in Group 1. The postoperative outcome was excellent in all patients. Acute and late complications were fewer and less severe in Group 1 and none were related to prematurity. CONCLUSIONS: Elective preterm delivery appears to be an effective method for the management of gastroschisis, and a method whose advantages thus far have outweighed the possible complications due to prematurity.
Assuntos
Cesárea , Procedimentos Cirúrgicos Eletivos/métodos , Gastrosquise/cirurgia , Nascimento Prematuro/cirurgia , Procedimentos Cirúrgicos Eletivos/estatística & dados numéricos , Comportamento Alimentar , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Tempo de Internação/estatística & dados numéricos , Gravidez , Resultado do TratamentoRESUMO
The death ligand Apo2L/TRAIL (Apo2 ligand/tumor necrosis factor-related apoptosis-inducing ligand) eradicates many tumor types while sparing most normal tissues. However, some tumors are resistant to TRAIL. We therefore determined if TRAIL cooperates with cytosine deaminase/5-fluorocytosine (CD/5-FC) gene therapy and investigated the mechanisms involved. Transfection of human LAN-5 neuroblastoma cells with CD rendered the cells (LAN-5-CD) sensitive to 5-FC-induced, caspase-dependent apoptosis. Mediated by caspase-3, CD/5-FC and TRAIL cooperated to induce apoptosis in these TRAIL-resistant cells and to cleave X-linked inhibitor of apoptosis protein (XIAP). In established LAN-5-CD tumors growing subcutaneously in mice, intratumorally applied TRAIL did not decrease tumor growth and systemically administered 5-FC only attenuated tumor growth. In contrast, 5-FC together with TRAIL dramatically decreased tumor growth and eradicated a tumor. Assuming sufficient gene transfer of CD in situ, CD/5-FC with TRAIL may be useful for the therapy of tumors resistant to TRAIL.
Assuntos
Citosina Desaminase/genética , Flucitosina/farmacologia , Terapia Genética , Ligante Indutor de Apoptose Relacionado a TNF/genética , Animais , Apoptose/efeitos dos fármacos , Neoplasias Encefálicas , Caspases/metabolismo , Divisão Celular , Linhagem Celular Tumoral , Clonagem Molecular , Proteínas de Ligação a DNA/deficiência , Modelos Animais de Doenças , Escherichia coli/enzimologia , Escherichia coli/genética , Proteínas de Escherichia coli/genética , Feminino , Humanos , Camundongos , Camundongos Knockout , Neuroblastoma , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
BACKGROUND: Parathyroid disease occurs sporadically or as part of hereditary multiple endocrine neoplasia (MEN) syndrome. The aim of this study was to evaluate the possible role of the RET proto-oncogene not only in hereditary MEN 2-associated hyperparathyroidism but also in different forms of sporadic hyperparathyroidism. METHODS: We investigated 22 patients with parathyroid disease whose family history and results of laboratory and clinical examinations excluded MEN 2 syndrome. DNA extractions of histologically confirmed tumor tissue of patients with primary hyperparathyroidism (n = 18), renal hyperparathyroidism (n = 2), and parathyroid carcinoma (n = 2) were performed. Using solid phase DNA sequencing, mutation analysis of polymerase chain reaction amplified products focused on exons 10, 11, and 16 of the RET proto-oncogene. Parathyroid tissue from four patients with known MEN 2A served as positive controls. RESULTS: No mutations of the codons 609, 611, 618, 620, 634, and 918 were found in the sporadic parathyroid tumors analyzed. DNA sequencing revealed heterozygous mutations in codon 634 of the RET proto-oncogene in four parathyroid glands from four patients with MEN 2A. CONCLUSIONS: Mutations of the RET proto-oncogene contributing to MEN 2 syndromes are absent in sporadic parathyroid tumors. Our data in conjunction with the literature suggest at least three different modes of tumorigenesis in parathyroid disease.
Assuntos
Adenoma/genética , Proteínas de Drosophila , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasias das Paratireoides/genética , Mutação Puntual , Proteínas Proto-Oncogênicas/genética , Receptores Proteína Tirosina Quinases/genética , Adenoma/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise Mutacional de DNA , DNA de Neoplasias/análise , Éxons , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasias das Paratireoides/etiologia , Proto-Oncogene Mas , Proteínas Proto-Oncogênicas c-retRESUMO
The heredity of medullary thyroid carcinoma within MEN2 syndrome is caused by heterozygous germline mutations in the RET proto-oncogene. Since MEN2-associated mutations involve only hot spots, the molecular genetic analysis of the RET proto-oncogene constitutes the perfect tool for the diagnosis of MEN2, being thus considered the standard method. The molecular genetic screening for MEN2-associated RET germline mutations should be carried out in all patients with an apparently sporadic medullary thyroid carcinoma or pheochromocytoma. This testing needs to include exons 10, 11, and 13 to 16 of the RET proto-oncogene. Such investigations are aimed at identifying an index person of a new MEN2 family. The detection of such a RET germline mutation is the basis for predictive molecular genetic testing within an affected family, and allows the exclusion or identification of gene carriers. For these family members at risk, prophylactic total thyroidectomy is recommended as a curative procedure, according to a risk-adapted, genetically based treatment algorithm. The management of such affected families should be always complemented by oncological and genetic counselling.
Assuntos
Carcinoma Medular/genética , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasias da Glândula Tireoide/genética , Carcinoma Medular/cirurgia , Mapeamento Cromossômico , Cisteína/genética , Aconselhamento Genético , Doença de Hirschsprung/genética , Humanos , Neoplasia Endócrina Múltipla Tipo 2a/classificação , Mutação de Sentido Incorreto , Proteínas Oncogênicas/genética , Proto-Oncogene Mas , Proteínas Proto-Oncogênicas c-ret , Receptores Proteína Tirosina Quinases/genética , Medição de Risco , Transdução de Sinais/fisiologia , Neoplasias da Glândula Tireoide/cirurgia , TireoidectomiaRESUMO
Hirschsprung disease (HSCR) is considered a model for a complex inheritance disorder. Several genes, including the major HSCR-susceptibility RET proto-oncogene, play an aetiological role in the development of HSCR. Genetic linkage analysis in familial HSCR with both long- and short-segment phenotypes has demonstrated a tight linkage to the RET locus, while the phenotype within a HSCR family is characterised by an incomplete penetrance or a variable extension of the aganglionosis. Therefore, additional genetic alterations of RET are postulated in the aetiology or modification of the HSCR phenotype. In this study, the coding region of all 21 exons of the RET proto-oncogene, including the flanking intronic sequences, were investigated by direct DNA sequencing in a HSCR population. We genotyped the c.135 G/A polymorphism and resolved haplotypes comprising the mutation locus and the c.135 G/A polymorphism. Twenty different mutations were detected in 18 of 76 HSCR patients. In ten families the mutations were inherited from the parents, while only four patients had a positive family history for the disease. Moreover, in all ten families an incomplete penetrance of the HSCR phenotype was observed. We have investigated the effect of the non-mutated wild-type allele as well as the c.135 G/A polymorphism on the phenotype within the HSCR families. Our findings support the notion that both RET alleles are involved in the pathogenesis of a subgroup of HSCR patients in a dose-dependent fashion. Additionally, we have shown a modifying effect of the c.135 G/A polymorphism on the HSCR phenotype within HSCR families.
Assuntos
Mutação em Linhagem Germinativa , Doença de Hirschsprung/genética , Proteínas Proto-Oncogênicas/genética , Receptores Proteína Tirosina Quinases/genética , Alelos , Éxons , Feminino , Dosagem de Genes , Genótipo , Humanos , Masculino , Polimorfismo Genético , Proto-Oncogene Mas , Proteínas Proto-Oncogênicas c-ret , Análise de Sequência de DNARESUMO
Infantile hypertrophic pyloric stenosis (IHPS) is a common childhood pathology affecting approximately 1-5 children pro 1000 newborns, with a genetic background as suggested by the familial occurrence. RET is a candidate gene for IHPS due to its role in the development of the intrinsic innervation and ganglia of the smooth musculature and the association of RET variants with another motility disorder (Hirschsprung's disease). Accordingly, we investigated RET-IHPS associations through sequencing of the complete RET coding region in 32 IHPS patients. Genotype frequencies were compared between patients and 48 controls using the Cochran-Armitage trend test or Fischer's test for exact p-values. We found 19 RET variants in IHPS, including polymorphisms in the promoter region (c.-200 G>A and c.-196 C>A). There was no statistically significant difference between the frequencies of the variants in both groups. There was no deviation from the Hardy-Weinberg equilibrium, yet a significant correlation (linkage disequilibrium) for variants in the promoter region, in exons 11, 13, 14 and 19 and in the 3' UTR. We conclude that RET variants are present in IHPS patients yet show no significant statistical association with the IHPS phenotype, suggesting at best an adjuvant role for RET in IHPS.
Assuntos
DNA/genética , Predisposição Genética para Doença , Mutação , Proteínas Proto-Oncogênicas c-ret/genética , Estenose Pilórica Hipertrófica/genética , Adulto , Éxons , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Mitógenos , Reação em Cadeia da Polimerase , Polimorfismo Genético , Estenose Pilórica Hipertrófica/congênitoAssuntos
Proteínas de Drosophila , Mutação em Linhagem Germinativa , Proteínas Proto-Oncogênicas/genética , Receptores Proteína Tirosina Quinases/genética , Apneia do Sono Tipo Central/genética , DNA/química , DNA/genética , Análise Mutacional de DNA , Frequência do Gene , Humanos , Polimorfismo Genético , Proto-Oncogene Mas , Proteínas Proto-Oncogênicas c-ret , Apneia do Sono Tipo Central/patologiaRESUMO
The popliteal entrapment syndrome arises due to a compression of the popliteal artery by tendomuscular structures often combined with an anomal position of the artery. Mostly young men are complaining of this disease. We report about an eleven-year old boy, who had an interview with us because of acute ischaemic symptoms in the left shank. We ensured a popliteal entrapment syndrome type I by Kogel. By a dorsal approach to the fossa poplitea we performed the myotomy and the restoration of the artery into the normal position. Eight month postoperative the boy is without any complaint. In doppler-scan we record an normal arterial flow.
Assuntos
Isquemia/cirurgia , Perna (Membro)/irrigação sanguínea , Artéria Poplítea/cirurgia , Velocidade do Fluxo Sanguíneo/fisiologia , Criança , Constrição Patológica/diagnóstico por imagem , Constrição Patológica/cirurgia , Humanos , Isquemia/diagnóstico por imagem , Masculino , Músculo Esquelético/irrigação sanguínea , Músculo Esquelético/cirurgia , Artéria Poplítea/diagnóstico por imagem , Complicações Pós-Operatórias/diagnóstico por imagem , Ultrassonografia Doppler em CoresRESUMO
INTRODUCTION: Heredity of MEN2 syndromes is caused by a heterozygous germline mutation in the RET proto-oncogene. This study describes families with rare noncysteine codon 790/791 mutations and discusses the genotype-phenotype correlation plus the therapeutic options. PATIENTS AND METHODS: Forty-five patients with a putative sporadic MTC were screened for RET germline mutations by direct DNA sequencing. Family members of identified index cases underwent genetic analysis. Gene carriers were examined clinically and biochemicaly and underwent prophylactic thyroidectomy. RESULTS: Five index patients were identified. In the kindreds three L790F and one Y791F carriers were detected. The thyroid gland histology of L790F carriers revealed MTC in 2 patients and C-cell hyperplasia in 2 additional patients. The Y791F carrier had a normal histology. CONCLUSIONS: Codon 790/791 mutations had diverse penetrance: prophylactic thyreoidectomy in children is a justifiable approach for codon 790 mutation carriers, but should depend on the clinical course of codon 791 carriers.
Assuntos
Carcinoma Medular/terapia , Mutação em Linhagem Germinativa , Neoplasia Endócrina Múltipla Tipo 2a/terapia , Neoplasia Endócrina Múltipla Tipo 2b/terapia , Proteínas Proto-Oncogênicas , Receptores Proteína Tirosina Quinases , Neoplasias da Glândula Tireoide/terapia , Tireoidectomia , Adolescente , Adulto , Sequência de Bases , Carcinoma Medular/diagnóstico , Carcinoma Medular/genética , Carcinoma Medular/prevenção & controle , Carcinoma Medular/cirurgia , Criança , Códon , Feminino , Genótipo , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/diagnóstico , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasia Endócrina Múltipla Tipo 2b/diagnóstico , Neoplasia Endócrina Múltipla Tipo 2b/genética , Linhagem , Fenótipo , Proto-Oncogene Mas , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas c-ret , Receptores Proteína Tirosina Quinases/genética , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/prevenção & controle , Neoplasias da Glândula Tireoide/cirurgiaRESUMO
Inactivating germline mutations of the novel putative tumor-suppressor gene LKB1/STK11 at 19p13.3 have been shown to cause Peutz-Jeghers syndrome (PJS), an autosomal dominantly inherited disease characterized by a predisposition to mucocutaneous pigmentations, as well as various benign and malignant neoplasms. To elucidate the role of LKB1/STK11 in the carcinogenesis of primary and secondary human brain tumors, a total of 309 tumors were analyzed for loss of heterozygosity (LOH) at microsatellite loci D19S886, DI9S878, and D19S565. Low LOH rates were observed for glioma (17.3%, n = 139), meningioma (5.3%, n = 57), schwannoma (0%, n = 21), pituitary adenoma (18.8%, n = 16), primary CNS lymphoma, neuroblastoma, plasmocytoma, medulloblastoma, germinoma, and papilloma of the choroid plexus (6.6%, n = 15). In contrast, brain metastases exhibited a mean LOH frequency of 42.6% (n = 61), with breast (56.3%) and lung cancer metastases (58.3%) being most frequently affected. Genomic DNA sequencing of the complete coding region of LKB1/STK11 was performed in all brain metastases exhibiting LOH (n = 26); no mutation was revealed, but we did find a germline mutation in a PJS patient. Despite high LOH fiequencies at the 19p13.3 locus in carcinoma metastases to the brain and occasional mutations reported for certain primary carcinomas, there are no mutations in LKB1/STK11. This fact suggests that alterations of LKB1/STK11 occur relatively early in tumorigenesis and are rarely involved in the development of carcinoma metastases. Based on these findings, the genes adjacent to LKB1/STK11 may be relevant for the development of metastases to the brain from certain carcinomas.
Assuntos
Neoplasias Encefálicas/genética , Carcinoma/genética , Cromossomos Humanos Par 19/genética , Perda de Heterozigosidade , Mutação , Proteínas Serina-Treonina Quinases/genética , Quinases Proteína-Quinases Ativadas por AMP , Sequência de Bases/genética , Neoplasias Encefálicas/secundário , Carcinoma/secundário , Mapeamento Cromossômico , Humanos , Repetições de Microssatélites , Dados de Sequência Molecular , Polimorfismo Genético/genéticaRESUMO
Critical analysis of the data published so far concerning the TSG101 gene revealed some inconsistencies leading us to its re-evaluation in 80 breast, brain, colon, and neuroectodermal tumors and 37 normal tissue specimens. In this study, the occurrence of TSG101 cDNA aberrant transcripts was verified, but in addition we made observations that are in apparent conflict with the aberrant splicing theory supposed as the underlying mechanism for transcript formation: the location of most deletion breakpoints within exons and nonconformity of these putative splice sites with the highly conserved GT-AG rule, detection of insertions as well as nonreproducible and highly variable results in repeated RT-nested PCRs. Furthermore, we found that reamplification of full-length TSG101 cDNA products leads to the generation of deleted transcripts. In summary, for the first time we provide evidence that the acquired TSG101 transcripts are caused by PCR artifacts.