Gardner's Syndrome Research Articles

Fine Needle Aspiration Cytology of Pancreatoblastoma in Adult/Adolescent Patients, One With Histology Mimicking NUT Carcinoma.

Pancreatoblastoma is a rare malignant neoplasm. Cytologic diagnosis is challenging due to the tumor's heterogeneity and requirement of the presence of squamoid nests. Commonly affects children, but the tumor rarely is seen in adult patients. We are reporting three cases from two patients. First patient was a 38-year-old male with a mass in the pancreatic body and numerous hepatic lesions. Fine-needle aspiration (FNA) of the pancreas showed a biphasic malignancy, predominantly composed of a primitive component with intermingled squamoid nests. Subsequent Liver FNA from the same patient showed a similar biphasic malignancy. NUT carcinoma was the top differential and was ruled out by molecular testing. Second patient was a 24-year-old female with a history of pancreatoblastoma related to Gardner's syndrome initially diagnosed in 2015 at age 17, status post distal pancreatectomy and chemotherapy. Celiac lymph node FNA in 2021 showed few cohesive clusters of atypical epithelioid cells, which were highlighted by beta-catenin. Lastly, the literature was reviewed; differential diagnosis and ancillary testing were discussed.

Gardner syndrome in a Tunisian family: Identification of a rare APC mutation through targeted NGS.

Gardner syndrome (GS) is a subtype of familial adenomatous polyposis (FAP) characterized by colorectal polyps, multiple osteomas, soft tissue tumors, and specific oral manifestations, such as jaw osteomas. GS is caused by mutations in the APC gene, resulting in a nonfunctional protein. This study reports a comprehensive clinical evaluation and genetic analysis of a Tunisian family affected by GS. Targeted exome sequencing and Sanger sequencing techniques were employed to identify and validate mutations in the APC gene. Clinical observations of the patient revealed multiple sebaceous cysts, frontal and maxillary osteomas, and several gastrointestinal polyps. Genetic analysis revealed a pathogenic variant (c.4652-4655del) in the APC gene, leading to a truncated protein. Additionally, genetic testing of the patient's child indicated that the child does not carry the APC pathogenic variant. In conclusion, our study highlights the importance of genetic testing in raising awareness of GS among clinicians to ensure early diagnosis and effective management, thereby reducing the risk of development and progression of colorectal cancer.

Gardner syndrome with desmoid tumors – case report

Gardner syndrome with desmoid tumors – case report

ПРОЯВЛЕНИЕ ГИПЕРКОАГУЛЯЦИОННОГО СИНДРОМА У ПАЦИЕНТКИ С МНОЖЕСТВЕННОЙ МИОМОЙ МАТКИ БОЛЬШИХ РАЗМЕРОВ

When analyzing the features of the manifestation of hypercoagulation syndrome in a patient with multiple large uterine fibroids, it was revealed that in this clinical case the patient had one of the variants of the syndrome Gardner, which can be confirmed by the fact that the patient’s history revealed the presence of osteoma of the clavicle and radius, a gastric polyp, which required surgical interventions. In addition, multiple uterine fibroids, reaching large sizes in combination with the hyperplastic process of the endometrium, can also be manifestations of hyperplastic syndrome in this clinical case. The presence of hyperplastic syndrome could lead the patient to an undiagnosed state of hypercoagulation, the so-called hypercoagulation syndrome, which, even with minimal blood loss, turned into a deficiency of blood coagulation factors. As a result of this pathology, despite observing the correct technique for performing the operation, intra-abdominal bleeding occurred in the early postoperative period, due to a deficiency of blood coagulation factors. The complication was diagnosed in a timely manner, the correct management tactics were chosen, consisting of both surgical hemostasis and correction of blood coagulation factors, which contributed to the rapid relief of this complication and the timely discharge of the patient. In addition, a careful analysis of this clinical case revealed that the patient had one of the variants of Gardner's syndrome. Despite the benign course of this disease, the patient was given recommendations for further management tactics, including mandatory observation by a gastroenterologist, fibrogastrodudenoscopy and colonoscopy over time for the timely detection of polyps.

Gardner Syndrome: A Diagnosis Approach, Clinical Evolution and Review

Introduction: Gardner Syndrome is characterized as an autosomal and dominant genetic mutation. Case Presentation: A 28-year-old man from the state of Gioias arrived at the emergency room accompanied by family members, complaining of recurrent diarrhoea with the presence of mucus and blood, in addition to cramps, abdominal distension, rectal tenesmus and episodes of metrorrhagia. After a thorough investigation, the patient reported having a lesion of about 2 cm in size on the left frontal region, with a firm and fixed consistency, which appeared more than 2 years ago and suggests bone involvement. He also mentioned having sought medical attention 5 years ago due to dental problems and recurrent skin lesions, characterized by cystic lesions, but there was no further investigation at the time. Discussion: It is a syndrome with a variant of familial adenomatous polyposis, presenting a wide range of clinical manifestations, with significant intestinal involvement, as well as osteomas and soft tissue tumours, which in general precede the intestinal clinical picture. The diagnosis of Gardner's Syndrome is made with multiple tools, involving clinical, radiological, endoscopic and genetic exams, and, being early, there is a significant improvement in prognosis. In order to avoid the malignant progression of intestinal polyps, prophylactic colectomy is indicated in most cases, but it is necessary to individualize the follow-up according to the phenotype of the disease. Conclusion: Patients with GS should be screened for intracolonic malignancy annually, as desmoid tumours are a common feature of GS/FAP, resulting in significant morbidity. and even mortality. Thus, early diagnosis, once again, will contribute to a better quality of life in the long term.

Familial DICER1 syndrome with thyroid pathology. A series of clinical cases

Thyroid diseases in childhood occupy the second place after obesity in the structure of the general pathology of the endocrine system, eating disorders and metabolic disorders in children in the Russian Federation. Thyroid cancer in children makes up from 1.5 to 3 % of all malignant tumors, and from 8 to 22 % of malignant solid tumors of the head and neck, and the younger the child’s age, the more aggressive the disease proceeds.Familial forms of thyroid diseases may be associated with geographical features (living in iodine-deficient regions), but may also be part of hereditary syndromes, such as: multiple endocrine neoplasia syndromes (Sipple syndrome, Gorner syndrome, familial medullary thyroid cancer), DICER1 syndrome, Gardner syndrome, Cowden syndrome, McCune–Albright–Braitsev syndrome et al.This article describes several cases of thyroid pathology associated with DICER1 syndrome.

Long-term follow-up of torpedo maculopathy: a case series and mini-review

BackgroundTorpedo maculopathy (TM) is a rare, congenital condition characterized by an oval-shaped, chorioretinal lesion in the temporal macula of unknown etiology. To our knowledge, the longest reported follow-up of TM is 5 years. Herein we report 10 years of follow-up on two patients with TM to further characterize the long-term natural history of the condition.Case reportsTwo patients with torpedo maculopathy were examined at baseline and then again at 5 years and 10 years from baseline. Eyes were evaluated using color fundus photography, automated perimetry, fundus autofluorescence and spectral domain optical coherence tomography. Visual function of both patients remained stable throughout the observation period. In case 1, there was no evidence of change in lesion morphology over the 10 year observation period. Case 2 showed progression of cystic degeneration of the neurosensory retina within the torpedo lesion. Case 1 reported a history of supernumerary teeth and underwent gene sequence with deletion/duplication analyses of the APC gene but no clinically significant variants were detected.ConclusionsOur findings support the position that TM is a nonprogressive condition with long-term stability of visual function. Genetic analysis of case 1 failed to detect any association with Gardner syndrome.

Isolated fourth ventricle craniopharyngioma: Representative case illustration and review of literature

Background: Sella and suprasellar areas are frequently affected by craniopharyngiomas. In this article, eight occurrences have been documented. One is new, and the remaining seven are from previously published articles. Their prevalence in the posterior fossa without expansion from the suprasellar area is unusual. Case Description: We present a case of a primary 4th ventricular craniopharyngioma of the posterior fossa in a 16-year-old male with no association with Gardner’s syndrome. He presented with sudden deterioration of consciousness level and was diagnosed as having a homogeneously contrast enhancing lesion occupying the 4th ventricle with obstructive hydrocephalus. The patient underwent emergency placement of external ventricular drain followed by complete removal of the tumor on the next day by midline suboccipital craniotomy with telovelar approach. Histopathological features were consistent with the adamantinomatous variety of craniopharyngioma. He had complete neurological recovery and no evidence of tumor recurrence in 1-year follow-up. Conclusion: The craniopharyngioma in our case was distinct because it was a solid tumor with no cystic component, exhibited homogeneous contrast enhancement in neuroimaging, developed in the fourth ventricle, and reached the level of foramen magnum, features that had rarely been documented previously. We also reviewed the literature on reported cases of 4th ventricular craniopharyngioma to strengthen knowledge in this area and highlight the embryological basis of ectopic craniopharyngioma.

Gardner's Syndrome—A Case Report and Brief Literature

AbstractGardner's syndrome has been recognized as a hereditary affliction that is autosomal in nature. This disorder is known to exhibit characteristics of familial adenomatous polyposis, of which it is also considered a variation. The features of this syndrome include the gradual development of osteomas and epidermoid cysts, including a characteristic feature that is the noted presence of intestinal polyps, which are generally multiple in number. Additionally, dental anomalies have been observed and recorded in a sizeable ratio of cases encompassing an increased frequency of multiple odontomas that are benign tumors linked to the development of a tooth and tooth agenesis/hypodontia that refers to developmental absence of one or more teeth. The other dental ascertainment includes abnormal morphology of the tooth/teeth as well as the presence of supernumerary teeth and impacted or unerupted teeth. This case report outlines the case of a 59-year-old male patient who had reported to the clinic, and was then diagnosed with Gardner's syndrome post a thorough examination. On radiographic examination, the manifestation of multiple osteomas in the frontal bone was revealed. The presence of a motley of diffused benign lesions of the bone in both the upper and lower jaw as well as the presence of an epidermoid cyst on the scalp was suggestive of an exemplar presentation of Gardner's syndrome.

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.

S2594 Not Just a Board Question: Gardner Syndrome in Clinical Practice

S2594 Not Just a Board Question: Gardner Syndrome in Clinical Practice

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.

Desmoid tumor (DT) is a fibroblastic proliferation arising in soft tissue characterized by localized infiltrative growth with an inability to metastasize but with a tendency to recurrence. Nuchal-type fibromas are benign soft tissue lesions that are usually developed in the posterior neck. The development of these neoplasms can be associated with a hereditary cancer predisposition syndrome, mainly familial adenomatous polyposis (FAP) syndrome caused by APC germline mutations. Gardner syndrome is a variant of FAP characterized by the presence of extracolonic manifestations including soft tissue tumors as DTs and nuchal-type fibromas. However, the development of these tumors could be associated with germline alterations in other genes related to colorectal cancer development. The objective of this study was to analyze germline variants in APC, MUTYH, POLD1 and POLE genes in five pediatric patients diagnosed with DTs or nuchal-type fibromas. We identified two pathogenic variants in the APC gene in two different patients diagnosed with nuchal-type fibroma and DTs and two variants of uncertain significance in POLD1 in two patients diagnosed with nuchal-type fibroma. Two patients had family history of colorectal cancer, however, only one of them showed an APC germline pathogenic variant. The analysis of germline variants and genetic counseling is essential for pediatric patients diagnosed with DTs or nuchal-type fibromas and their relatives.

Gardner syndrome: a mini review

Gardner syndrome is one of the hereditary gastrointestinal cancer syndromes and is not commonly encountered. It is a variant of familial adenomatous polyposis associated with cutaneous and soft tissue tumors. It is important to be aware of these syndromes as they are often associated with systemic manifestations and have implications for family members.

Early treatment principles of tooth replacement disorders associated with hereditary oral diseases

Tooth replacement disorders are characterized by retention of deciduous teeth and abnormalities in permanent teeth eruption. Hereditary disorders with multiple teeth involved include cleidocranial dysplasia, osteopetrosis and Gardner syndrome. These rare diseases have great difficulty in treatment with various principles reported. This article focused on clinical manifestations and early treatment principles of these hereditary disorders, as well as the important role of dentists in early diagnosis of these diseases.

APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature

The 5q deletion syndrome is a relatively rare condition caused by the monoallelic interstitial deletion of the long arm of chromosome 5. Patients described in literature usually present variable dysmorphic features, behavioral disturbance, and intellectual disability (ID); moreover, the involvement of the APC gene (5q22.2) in the deletion predisposes them to tumoral syndromes (Familial Adenomatous Polyposis and Gardner syndrome). Although the development of gastrointestinal tract malignancies has been extensively described, the genetic causes underlying neurologic manifestations have never been investigated. In this study, we described a new patient with a 19.85 Mb interstitial deletion identified by array-CGH and compared the deletions and the phenotypes reported in other patients already described in the literature and the Decipher database. Overlapping deletions allowed us to highlight a common region in 5q22.1q23.1, identifying KCNN2 (5q22.3) as the most likely candidate gene contributing to the neurologic phenotype.

Atypical Gardner's Syndrome with Proptosis as the Primary Symptom

Atypical Gardner's Syndrome with Proptosis as the Primary Symptom

Gardner syndrome: A case report

Gardner syndrome: A case report

Photo gallery. Rare dermatoses. Part I

Orphan dermatoses are caused by both genetic causes and a number of autoimmune, inflammatory and infectious processes in the body. Congenital giant nevus is associated with serious complications: malignant melanoma, CNS lesions (neurocutaneous melanosis). Multiple epidermoid cysts are often a component of Gardner's syndrome. Angiolymphoid hyperplasia with eosinophilia, a vascular tumor formation with proliferation of histiocytoid endothelial cells, with severe lymphocytic and eosinophilic infiltration, recurs in 1/3 of cases. Morbigan's disease is persistent erythema and swelling of the middle third and upper part of the face. Skin mastocytosis in children is prone to spontaneous resolution during puberty. Squamous cell skin cancer accounts for 20% of all skin cancers and has a high risk of recurrence, metastasis, and death. Buschke's scleroderma is a scleroderma-like disease that causes progressive fibrous-mucinous thickening of the skin affecting the neck, shoulders, proximal upper extremities, and face. Fulminant (lightning) acne is a sharply exacerbated form of acne vulgaris, characterized by an acute onset and the appearance of confluent abscesses. Cases of acne fulminans have been observed during treatment with isotretinoin. Norwegian (crustose) scabies is associated with a compromised immune response, which allows the mites to multiply and can number in the millions. Pretibial myxedema (thyroid dermopathy) is a rare extrathyroid manifestation of Graves' disease along with thyrotoxicosis, thyroid hypertrophy, ophthalmopathy, and acropachy. Porokeratosis Mibelli predisposing factors of development are immunosuppressive conditions, malignancy is possible. Osteomas are formations from bone tissue in the dermis or subcutaneous fat as a result of metaplasia of fibroblasts into osteoblasts, or differentiation of primitive mesenchymal cells into osteoblasts and their migration to an ectopic site. Sarcoidosis of the skin is characterized by a variety of clinical forms, rarely observed before 40 years. Xanthomas with histiocytosis X ― a violation of lipid metabolism. The rural type of leishmaniasis (acute necrotizing) has a short incubation period, a significant spread of rashes and healing with the formation of scar tissue. The giant condyloma of BuschkeLevenshtein is characterized by progressive growth, large size and recurrent course, it can transform into squamous cell carcinoma. Degos disease ― malignant atrophic papulosis ― a rare disease caused by blockage of the arteries and veins.

Osteoma of the Jaw as First Clinical Sign of Gardner’s Syndrome: The Experience of Two Italian Centers and Review

Gardner's syndrome (GS) is a combination of polyposis, osteomas, fibromas, and sebaceous cysts. The aim of the study is to highlight whether maxillofacial osteoma could represent an early detection symptom of GS. Patients with suspected osteoma of the jaw underwent genetic and radiographical examinations. The database gathered 19 patients with oral osteoma that was histologically diagnosed; the whole sample was positive for APC gene mutation. Other cranial and peripheral locations were reported. Osteoma of the jaw is a crucial predictive factor of GS, and dentists and oral and maxillofacial surgeons must be aware of the importance of a timely diagnosis.

Treatment of Osteoid Osteoma.

First described by Bergstrand in 1930, osteoid osteomas are benign lesions of bone.[1] The cause of osteoid osteoma is unknown, but suggested etiologies include benign neoplastic cells, trauma, and inflammation. Histologically, osteoid osteomas are composed of mature lamellar bone and have a simple karyotype with FOS and FOSB rearrangements on cytogenetic studies.[2] [3] This can be utilized as diagnostic markers for osteoblastoma and osteoid osteoma. There is no known potential for malignant transformation.[3] Osteoid osteomas account for approximately 5% of all primary bone lesions and 10% of benign bone tumors. These lesions measure less than 2 cm in diameter and commonly occur between the first and third decades of life, with a male predilection of 3:1.[4] Lesions with a diameter larger than 2 cm are referred to as osteoblastoma, which has an increased incidence in patients with Gardner's syndrome, as they harbor a germline mutation in the APC gene.[2] Lesions have a predilection for long bones, particularly the diaphysis and metaphysis of the femur and tibia.[5] In the upper limb, the phalanges of the hand are the most commonly affected sites.[6]