A novel APC mutation associated with Gardner syndrome in a Chinese family.

Gardner syndrome (GS) is a specific form of familial adenomatous polyposis (FAP), which manifests as colorectal polyps, multiple osteomas and soft tissue tumors, and in the oral cavity as osteomas of the jaws, odontomas, and abnormal tooth counts. The underlying cause of GS is attributed to mutations in the APC gene. Mutations in this gene disrupt the normal functioning of the protein and lead to the development of GS. To further investigate GS, a family affected by the syndrome was selected from Dongguan, Guangdong Province. The family members underwent a comprehensive survey, which involved collecting clinical data and peripheral venous blood samples. The samples were then used for genetic analysis. Whole exome sequencing (WES) and Sanger sequencing techniques were utilized to screen and identify specific mutation sites in the APC gene. The clinical findings for the GS family included the presence of gastrointestinal polyps and odontomas. After analyzing the genetic sequencing results, a novel mutation site c.4266dupA on the APC gene was found in the patients, which leading to the APC protein truncation. As a result of this study, it is suggested that odontoma may be an early indicator of GS. Additionally, the identification of this novel mutation site in the APC gene expands the known spectrum of genetic mutations associated with the disease. This discovery has significant implications for the early diagnosis of GS, thus enabling timely intervention to reduce the risk of developing colon cancer and other related diseases.

Gardner syndrome with giant abdominal desmoid tumor during pregnancy: a case report.

BACKGROUND: Gardner syndrome is a subtype of familial adenomatous polyposis (FAP), characterized by a combination of adenomatous intestinal polyps and extracolonic lesions such as multiple osteomas, dental abnormalities, and soft tissue tumors. Although 12% of patients with intestinal polyposis of FAP may occur intra-abdominal desmoid tumors, pregnancy complicating with giant abdominal desmoid tumors is a relatively rare case. CASE PRESENTATION: A 28-year-old pregnant woman was diagnosed with Gardner syndrome in whom an intra-abdominal tumor was found a year after undergoing a laparoscopic total colectomy due to family adenomatous polyposis. At 32 weeks' gestation, she presented to our department for the third time complaining upper abdominal pain caused by the giant abdominal mass about 21 × 12 cm2 in size. After multidisciplinary consultation and discussion, the decision of fetal preservation treatment was made. After the delivery of a baby girl, abdominal mass resection was performed, and pathological examination revealed a fibrous adenoma. The patient was discharged after a week and was uneventful in the follow-up for half a year. CONCLUSIONS: Gardner syndrome is characterized by typical syndrome including family adenomatous polyposis and extra-intestinal tissue tumor. Were desmoid tumors rarely as large as fetus and local aggressively. In our case, we selected surgery to remove the intra-abdominal desmoid tumor after the natural delivery of the fetus and no abnormalities were observed during the 6 months follow-up. Women during pregnancy have an increased risk for the development of desmoid tumors, likely with the sex hormone to be one of the triggers. Therefore, we suggested that when a patient with Gardner syndrome desire to conceive again, they should go to the hospital for a regular review at least once every 3 months.

Superior vena cava syndrome due to mediastinal Gardner fibroma presenting as syncope.

Superior vena cava (SVC) syndrome refers to the clinical manifestation due to an obstruction in the SVC; resulting in decreased venous return from the head, neck and upper extremities. The obstruction can occur either due to tumour invasion of the vessel wall with associated thrombus or due to vessel wall compression by the tumour mass. The patient being reported is a young male who presented with recurrent episodes of syncope and was found to have mediastinal Gardner fibroma causing SVC syndrome. Gardner fibroma is a benign soft tissue lesion; and its occurrence in the mediastinum resulting in SVC syndrome has not been reported yet.

A Case of Early FAP Diagnosis with Extraintestinal Manifestations on the Face.

OBJECTIVE: Gardner's syndrome is a variant of familial adenomatous polyposis, characterized by gastrointestinal polyps, multiple osteomas, and skin and soft tissue lesions. Diagnosis by means of an understanding of its various symptoms is of great importance. CASE REPOSRT: This report presents the case of a 32-year-old man with obvious asymmetry and disfigurement on his face, due to multiple osteomas and soft tissue lesions. These clinical signs prompted us to further investigation, leading to the diagnosis of a case of Gardner's syndrome, with asymptomatic polyposis of the colon. Polyps have virtually an almost 100% risk of undergoing malignant transformation. CONCLUSION: Early diagnosis and treatment of this pathological entity are crucial, while the presence of osteomas should alert us to this diagnosis.

Reconstruction of a large full-thickness abdominal wall defect with flow-through-based alt flaps: A case report.

An extensive 35 × 20 cm sized full-thickness abdominal wall defect was created after resection of aggressive abdominal fibromatosis in a 19-year-old male patient. Immediate reconstruction was not possible due to prolonged operation time and resulting severe bowel edema. A silicone sheet with NPWT was applied over the exposed viscera. After 1 week, silicone sheet was substituted with a composite mesh. Then, abdominal wall reconstruction with bilateral free anterolateral thigh (ALT) flaps (30 × 12 cm and 25 × 12 cm sized) was performed. Since there was only a single reliable recipient vessel available, we linked 2 ALT free flaps sequentially in a flow-through fashion to the left inferior epigastric artery and vein. Two donor sites were closed primarily. The flap fully survived and the defect was covered successfully without any complication for 11 months of follow up. Multiple flaps may be needed for large full-thickness abdominal wall defect coverage. Linked fasciocutaneous free flaps could be a solution with a less donor site morbidity even in the case of limited available recipient vessels. The purpose of this study is to introduce our experience of extensive full-thickness abdominal wall reconstruction using only ipsilateral deep inferior epigastric vessels.

Bone and dental abnormalities as first signs of familial Gardner's syndrome in a Chinese family: a literature review and a case report.

Gardner's syndrome (GS) is an autosomal dominant disease characterized by the presence of familial adenomatous polyposis (FAP) as well as extraintestinal manifestations such as osteomas, dental anomalies, epidermoid cysts and ocular abnormalities. These intestinal polyps carry a 100% risk of malignant change, so early diagnosis is crucial. As craniofacial osteomas and dental anomalies of GS usually precede gastrointestinal symptoms, otolaryngologists, oral surgeons and dentists play an important role in the diagnosis of GS. GS is extensively reported in literature in the Caucasian race but not in the Mongoloid race. We report a case of a 22-year-old patient with a manifestation of three features of GS - multiple osteomas, soft tissue tumors and dental anomalies in the craniofacial region, with no intestinal polyps at the time of reporting. A family pedigree with our patient as the proband was constructed and revealed 3 consecutive generations in his lineage with GS.

Gardener-associated fibroma: an unusual cause of upper airway obstruction.

We present the first case of upper airway obstruction secondary to a retropharyngeal Gardner-associated fibroma (GAF). A 16-month-old infant presented with a 3-month history of worsening dyspnoea and apnoeic episodes. Examination revealed stridor and left-sided retropharyngeal asymmetry. MRI demonstrated a mass in the retropharynx. Tracheostomy and pharyngeal biopsy under anaesthesia were performed, and histology confirmed a diagnosis of GAF. The mass was excised using a transcervical approach, and postoperative recovery was unremarkable. GAF is associated with Gardner's syndrome (GS) and familial adenomatous polyposis (FAP), both of which are associated with multiple colonic polyps and increased risk of colorectal malignancy. Subsequent testing for an APC mutation seen in GS and FAP was negative in our patient. The details of this unusual presentation of a rare disease are given in addition to a review of the literature.

[Gardner syndrome with chronic osteomyelitis of the jaw: a case report].

Gardner syndrome is a rare autosomal dominant disease. Its symptoms include multiple intestinal polyps, soft tissue tumors, dental disorders, osteoma, and congenital hypertrophy of the retinal pigment epithelium. Here, we present a patient with Gardner syndrome and chronic osteomyelitis of the jaw to highlight the serious damage that can be caused by Gardner syndrome.

Spectrum of Hybrid Cysts and Their Clinical Significance.

A hybrid cyst is a cutaneous cyst combining different types of keratinization of those seen in the folliculo-sebaceous-apocrine unit. Previous reports found that it may be occasionally associated with Gardner syndrome. This study aimed to clarify the pathologic findings and clinical significance of hybrid cyst based on case series observations. We retrospectively reviewed patients who fulfilled the pathological criteria of hybrid cyst from 2001 to 2015. The patient profiles, clinical presentations, pathological findings, and associated diseases were analyzed by reviewing the medical records and slides. A total of 71 hybrid cysts were confirmed over the study period. There were 12 pathologic variants. The most frequent variant was combined infundibular cyst and tricholemmal cyst (22 in 71 cases, 30%), followed by infundibular cyst and pilomatricoma (14 in 71 cases, 19%). There was no significant association between sex, age, or site and the pathological type of hybrid cyst. Neither extra-intestinal manifestation nor a family history of Gardner syndrome was found in any case. Hybrid cysts could contain a variety of combinations of components from the folliculo-sebaceous-apocrine unit. No clinical significance was found between demographics and the type of hybrid cyst. No association with Gardner syndrome was identified in this case series.

Craneofaringioma ectópico y síndrome de Gardner: a propósito de un caso y revisión de la literatura / Ectopic craniopharyngioma and Gardner's syndrome: Case report and literature review

Introducción: El craneofaringioma representa alrededor del 3% de todos los tumores primarios del sistema nervioso central. Por lo general, se localiza en la región supraselar, sin embargo, puede tener una localización atípica. Caso clínico: Presentamos el caso de un varón de 29 años de edad que fue intervenido de un osteoma de mandíbula a los 19 años de edad, y a quien posteriormente se le diagnosticó síndrome de Gardner. Ingresó en nuestro hospital con una paresia facial derecha de un día de evolución acompañada de diplopía. La exploración neurológica confirmó la existencia de una paresia leve del VI y VII pares craneales derechos. La resonancia magnética cerebral mostró una lesión sólido-quística, redondeada, de contorno bien definido, de unos 2cm de diámetro que ocupaba el cuarto ventrículo. El paciente fue intervenido mediante una craneotomía fosa posterior, abordaje telovelar y extirpación completa del tumor implantado a nivel del techo del cuarto ventrículo. El estudio anatomopatológico definitivo informó de un craneofaringioma adamantinomatoso. Conclusión: El craneofaringioma es un tumor que puede aparecer en otra localización diferente de la región selar-supraselar, y por mecanismos etiopatogénicos hasta ahora desconocidos su localización atípica puede guardar relación con alguna forma de poliposis adenomatosa familiar como el síndrome de Gardner

Introduction: Craniopharyngioma accounts for around 3% of all primary tumours of the central nervous system. It is usually located in the suprasellar region, although it may also have an ectopic location. Case report: The case is presented on 29 year-old male who underwent surgery for a jaw osteoma when he was 19 years old and was subsequently diagnosed with Gardner's syndrome. He was admitted in our Hospital with right facial paresis and diplopia of one day onset. The examination showed mild right VII and VI cranial nerves paresis. Magnetic resonance imaging of the brain demonstrated a rounded solid and cystic lesion with well-defined contours of about 2cm in diameter filling the fourth ventricle. The patient underwent a posterior fossa craniotomy using a telovelar approach with complete removal of the tumour implanted at roof level of the fourth ventricle. The final histology of the tumour was reported as adamantinomatous craniopharyngioma. Conclusion: Craniopharyngioma may appear in another location other than the suprasellar region. Its atypical location may be related to Gardner syndrome by still unknown pathogenic mechanisms

Reconstruction of an abdominal wall defect with biologic mesh after resection of a desmoid tumor in a patient with a Gardner's syndrome.

INTRODUCTION: Desmoid tumors are rare proliferative and invasive benign lesions. They can be sporadic, but in most instances, desmoid tumors develop in the context of Gardner's syndrome with principal localization in the abdominal cavity and abdominal wall. CASE-REPORT: We report the case of a 24-year-old female presenting Gardner's syndrome with a symptomatic abdominal wall desmoid tumor. Lack of response to medical treatment led to surgical management consisting in a complete resection and parietal reconstruction with a biologic mesh. Postoperative course was uneventful and there was no evidence of recurrence at 12 months of follow-up. DISCUSSION: Conventional treatment of abdominal wall desmoid tumors consists in a wide and radical resection. However, complete resection is not always feasible because of difficulty to differentiate the desmoid tumor from adjacent tissues. The surgical approach may require different techniques to repair the parietal defect including prosthetic material such as synthetic or biologic meshes. Biological mesh is an ideal alternative to synthetic graft, mainly in case of infection. CONCLUSION: We have encountered a case of a symptomatic growing desmoid tumor of the abdominal wall in a young patient with Gardner's syndrome, successfully treated by complete resection and reconstruction with a biologic mesh to correct the parietal defect.

Orthokeratinized Odontogenic Cyst with an Associated Keratocystic Odontogenic Tumor Component and Ghost Cell Keratinization and Calcifications in a Patient with Gardner Syndrome.

Gardner syndrome (GS) is caused by mutations in the APC and besides adenomatous colorectal polyps includes such manifestations as osteomas, epidermoid cysts (ECs) and occasionally multiple pilomatricomas. More than 50 % of ECs in patients with GS exhibit pilomatricoma-like ghost cell keratinization. The latter may be explained by the fact that the development of both GS and pilomatricoma is driven by activation of the Wnt/ß-catenin signaling pathway. A 62-year-old, Caucasian male with history of GS presented with a unilocular, mixed radiopaque/radiolucent mandibular lesion causing divergence and external root resorption of involved teeth. Histopathologically, the lesion was composed of two cystic components, an orthokeratinized odontogenic cyst (OOC) and a smaller one with characteristics of keratocystic odontogenic tumor (KCOT) featuring, focally, ghost cells and an epithelial morule-like structure. Dystrophic calcifications essentially similar to those seen in pilomatricomas were observed in the fibrous connective tissue wall. The KCOT and OOC epithelia revealed strong and diffuse cytokeratin (AE1/AE3) and ß-catenin immunoreactivity. CD10 positive immunostaining was seen in the keratin and superficial spinous cell layers in both OOC and KCOT. The intraepithelial and mural ghost cells showed a cytokeratin (+), ß-catenin and CD10 (-) immunophenotype. The diagnosis of OOC with ghost cell calcifications in association with KCOT was rendered. The patient was lost to follow-up. Although a coincidental co-existence cannot be excluded, ghost cell calcifications mimicking pilomatricoma-like changes in an unusual odontogenic cyst combining OOC and KCOT features as seen in this patient with GS may be explained by the common molecular mechanisms underlying the pathogenesis of cutaneous pilomatricomas and GS.

Intestinal perforation during chemotherapeutic treatment of intra-abdominal desmoid tumor in patients with Gardner's syndrome: report of two cases.

BACKGROUND: A minority of intra-abdominal desmoid tumors is associated with Gardner's syndrome in which desmoid tumors become an important cause of morbidity and mortality if they are surgically unresectable. CASE PRESENTATION: Here, we report two cases of intestinal perforation during chemotherapy in patients with Gardner's syndrome-associated intra-abdominal desmoids. One female and one male patients who developed inoperable desmoids were given the chemotherapeutic regimen of doxorubicin plus dacarbazine, followed by meloxicam. Significant tumor regression was observed clinically. However, intestinal perforation happened in both patients. They were subjected to emergency surgery, follow-up management, and survived up to now. CONCLUSIONS: The doxorubicin plus dacarbazine chemotherapy is an effective treatment for intra-abdominal demoid tumors in patients with Gardner's syndrome. On the other hand, given severe adverse events might occur, clinicians should pay more attention that tumor quick regression may cause intestinal perforation in which urgent surgical intervention is necessary.

Ectopic craniopharyngioma of the fourth ventricle in a patient with Gardner syndrome.

Ectopic craniopharyngioma is uncommon and a craniopharyngioma confined purely within the fourth ventricle is extremely rare. We report a craniopharyngioma of the fourth ventricle in a 20-year-old man with Gardner syndrome. Imaging characteristics of craniopharyngiomas and fourth ventricle lesions are discussed with a review of the literature regarding the pathogenesis of craniopharyngiomas and the possible association with Gardner syndrome.

Gastroduodenectomía total con preservación pancreática para el tratamiento del síndrome de Gardner con poliposis gastroduodenal y degeneración maligna / Total gastroduodenectomy with pancreatic preservation for the treatment of Gardner's syndrome with gastroduodenal polyposis and malignant transformation

No disponible

Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies.

Numerous familial tumor syndromes are associated with distinctive oral mucosal findings, which may make possible an early diagnosis as an efficacious marker for the risk of developing visceral malignancies. In detail, Familial Adenomatous Polyposis (FAP), Gardner syndrome, Peutz-Jeghers syndrome, Cowden Syndrome, Gorlin Syndrome, Lynch/Muir-Torre Syndrome and Multiple Endocrine Neoplasia show specific lesions of the oral mucosa and other distinct clinical and molecular features. The common genetic background of the above mentioned syndromes involve germline mutations in tumor suppressor genes, such as APC, PTEN, PTCH1, STK11, RET, clearly implied in both ectodermal and mesodermal differentiation, being the oral mucosal and dental stigmata frequently associated in the specific clinical phenotypes. The oral and maxillofacial manifestations of these syndromes may become visible several years before the intestinal lesions, constituting a clinical marker that is predictive for the development of intestinal polyps and/or other visceral malignancies. A multidisciplinary approach is therefore necessary for both clinical diagnosis and management of the gene-carriers probands and their family members who have to be referred for genetic testing or have to be investigated for the presence of visceral cancers.

Adenomas of the common bile duct in familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) or Gardner's syndrome is often accompanied by adenomas of the stomach and duodenum. We experienced a case of adenomas of the common bile duct in a 40-year-old woman with FAP presenting with acute cholangitis. Only 8 cases of adenomas or adenocarcinoma of the common bile duct have been reported in the literature in patients with FAP or Gardner's syndrome. Those patients presented with acute cholangitis or pancreatitis. Local excision or Whipple procedure may be the reasonable surgical option.