History Of Familial Adenomatous Polyposis Research Articles

7817 A Rare Case of Intrathyroidal Thyroglossal Duct Cyst Presenting as a Rapidly Expanding Left Thyroid Goiter

Abstract Disclosure: C.M. Godar: None. A.J. Spiro: None. K.F. Brown: None. M.K. Shakir: None. T.D. Hoang: None. Introduction: Thyroglossal duct cysts are the most common congenital cyst in the head and neck, found during childhood as a midline neck mass. We present a rare case of a large intrathyroidal thyroglossal duct cyst with left lateral extension in an adult patient. Case Report: A 50-year-old man with family history of familial adenomatous polyposis presented for thyroid nodule evaluation. Thyroid ultrasound for screening of thyroid cancer showed a 4.8 x 4.5 x 2.5cm mixed cystic/solid hyperechoic thyroid nodule with smooth margins in the left lower thyroid lobe. He reported no compressive symptoms. FNA with standard 27G needle was insufficient for evaluation with Bethesda I result. Attempted syringe aspiration did not produce cystic fluid for analysis. The patient returned to clinic 8 weeks later due to visible enlargement of his anterior neck and new neck pressure with swallowing. Physical exam was significant for a new, firm palpable mass over the left thyroid isthmus. Bedside ultrasound noted expansion of the previously visualized mass now extending into the thyroid isthmus. FNA was reattempted with a 25G needle, and cytologic material was again inadequate. He elected to undergo left hemithyroidectomy. Histologic sections demonstrated a 3.4cm simple squamous, non-keratinizing cyst lining overlying a thickened fibrotic wall with mixed acute and chronic inflammation surrounded by benign thyroid tissue, consistent with an intrathyroidal thyroglossal duct cyst. Discussion: The thyroglossal duct derives from epithelial tissue during embryogenesis and atrophies during weeks 8-10 of gestation. A persistent duct may lead to cyst formation in the presence of remnant epithelial tissue secretions and local neck inflammation. A thyroglossal duct cyst is usually located midline in the anterior neck. This stands in comparison to a branchial cleft cyst, which arises due to failure of atrophy of the second branchial groove during embryogenesis and forms a cyst that is usually located in the upper lateral neck compartment. Other common neck masses include lipomas, dermoid cysts, or ectopic thyroid tissue. This case highlights the rarity of intrathyroidal thyroglossal duct cyst in an adult patient and the importance of definitive diagnosis and appropriate management. Presentation: 6/2/2024

Cribriform-morular Thyroid Carcinoma Arising in a Medulloblastoma Survivor: Two Metachronous Tumors Shared with the Activation of the Wnt Signaling Pathway.

Wnt signaling pathway activation is involved in the pathogenesis of a series of malignant tumors and is characterized by the nuclear accumulation of β-catenin protein. The occurrence of two or more Wnt pathway-associated tumors in a single individual is uncommon and generally attributed to inherited cancer syndrome, especially familial adenomatous polyposis (FAP). Herein, we presented a rare case of a child who suffered from the occurrence of Wnt-activated medulloblastoma and cribriform-morular thyroid carcinoma (CMTC) within a 9-year interval. She had no history of FAP and harbored an unexpected somatic mutation of the APC gene in the CMTC tumor. The potential agents involved in the pathogenesis of the two molecular-linked tumors other than FAP were discussed in this report.

Cribriform-morular thyroid carcinoma: A case report with review of the literature.

Cribriform-morular thyroid carcinoma (CM-TC) is a rare entity that usually occurs in association with familial adenomatous polyposis (FAP) but may be sporadic. Herein, we present a new case of cribriform-morular thyroid carcinoma occurring in a 28-year-old woman with no history of FAP.

Laparoscopic gastric wedge resection and spleen-preserving distal pancreatectomy performed on a 6-cm gastric desmoid tumour with pancreatic invasion.

Desmoid tumours are rare tumours originating from fibroblasts, and are characterised by local infiltration and no metastasis. When complete resection is possible, surgical resection is considered a first-line treatment. In the case of large desmoid tumours, it is mainly performed by laparotomy, not laparoscopy. We report a case of a 43-year-old female patient presenting with a hypodense mass of approximately 5 cm in the posterior wall of the gastric antrum on computed tomography. There was no history of familial adenomatous polyposis, trauma or abdominal surgery. The patient underwent laparoscopic gastric wedge resection and spleen-preserving distal pancreatectomy without peri-operative complications. Pathological analysis revealed a desmoid tumour, which originated from the stomach and invaded the pancreas. Despite the large size and the locally infiltrative characteristics of these tumours, laparoscopic surgery can be an optimal treatment option due to its advantages.

Metformin combined with endoscopic therapy in patients with familial polyposis associated with carcinoma: A case report.

Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disease, with a very high cancer rate. At present, endoscopic resection of polyps ≥ 1 cm is often chosen for patients with non-cancerous polyps who are unwilling to undergo surgery, and regular review is conducted. Once the polyps are pathologically confirmed to be cancerous, surgical resection of the diseased large intestine is generally recommended, but surgery often leads to a series of complications. So what do you do with cancer patients who don't want surgery? A 19-year-old woman presented with intermittent hematochezia with abdominal pain. A colonoscopy revealed hundreds of intestinal polyps. The patient had a family history of FAP, and there were hundreds of polyps in the intestine. The pathology was adenomatous, and some polyps became cancerous, which met the diagnostic criteria of FAP. Endoscopic examination was arranged for the patient, the resection of intestinal polyps ≥ 1 cm was given priority, and other polyps were removed as far as possible. After that, metformin 500 mg orally was given twice a day, and endoscopic follow-up was conducted every 6 months. During each endoscopic follow-up, intestinal polyps ≥ 1 cm were preferred to be removed, and other polyps were removed as far as possible. The patient's abdominal pain and blood in the stool disappeared after endoscopic treatment. Cancerous polyps were found at the second and third follow-up visits, but the patient always refused surgical treatment. After 4 years of follow-up, polyp load was significantly reduced, abdominal pain and bloody stool symptoms did not appear again, and imaging examination showed no tumor recurrence and metastasis. Endoscopic polyp resection is an important method to treat the clinical symptoms of FAP. Metformin combined with endoscopic therapy is a good alternative for patients with familial polyposis who do not want surgery. When the polyp is cancerous and the polyp is radically resected by the endoscope, if the patient refuses additional surgery, oral metformin combined with endoscopic follow-up can be considered.

ODP024 Adrenocortical Carcinoma Identified in a Patient With Familial Adenomatous Polyposis Syndrome

Abstract Background Numerous extracolonic manifestations are associated with familial adenomatous polyposis (FAP), including benign thyroid and adrenal nodules, less commonly thyroid and adrenal cancers. We describe a case of a patient with history of FAP who was found to have malignant lesions both in the thyroid and adrenal glands. Clinical Case A 54 year-old female with familial adenomatous polyposis (FAP) underwent partial colectomy at age 16. Known extracolonic manifestation at initial presentation was limited to a dermoid tumor of the right breast. Upon evaluation by endocrinology, she was found to have a dominant thyroid nodule in the right lobe that eventually doubled in size and was positive for papillary thyroid cancer with a BRAF V600E mutation. Successful total thyroidectomy with central neck lymph node dissection was completed, and she is now undergoing routine surveillance for ATA low risk PTC. She maintained annual endoscopic surveillance with gastroenterology and underwent serial abdominal imaging studies for complaints of abdominal discomfort. Right adrenal adenoma was first identified in August 2017 and screening for functionality, to include pheochromocytoma, was negative. Repeat abdominal imaging in 2020 showed the lesion increased in size by 30%. CT imaging identified the nodule as indeterminate based on the washout characteristics (HU 27 pre-contrast, absolute washout = 13% and relative washout = 8%). A 2cm left adrenal mass was also noted with radiographic features consistent with a lipid poor, benign, adenoma (HU 33 pre-contrast, absolute washout = 58%, relative washout = 39%). PET-CT was performed to further characterize the right sided lesion, which was vividly FDG avid at 8.7 SUV (high probability of malignancy). The left adrenal nodule was mildly FDG avid with an SUV of 2.4. CT-guided biopsy of the right adrenal gland was performed and immunohistochemistry did not stain for chromogranin, inhibin, pankeratin or calretinin. Positive staining for MART-1 was seen, which is a typically associated with adrenal cortical cells. There was a high index of suspicion for malignancy given her hereditary cancer syndrome, and the decision was made to proceed with right adrenalectomy. Final surgical pathology confirmed a low grade adrenocortical carcinoma with two nodular lesions, both staining CD10 positive with the mitotic marker (Ki-67) 2-3% positive. The patient's left adrenal gland remains functionally intact, and there were no indications to pursue postoperative treatment or adjuvant therapy. Conclusion The patient presented here is representative of incidentally discovered nonfunctional adrenocortical carcinoma in the setting of a hereditary cancer syndrome. The available literature suggests that adrenocortical tumors should be considered FAP tumors, and sporadic mutations leading to adrenocortical carcinoma are less likely related to germline APC gene mutations Presentation: No date and time listed

The dilemma in management of desmoid tumour: A case report

IntroductionDesmoid tumours are rare benign tumours. The tumours may develop sporadically or they may be linked to familial adenomatous polyposis (FAP) in Gardner’s syndrome.AimThis article highlights a young lady with an intra-abdominal desmoid tumour that manifested as an acute abdomen and we discuss our management strategy.Case studyA 24-year-old lady with a known FAP who had undergone a panproctocolectomy with an ileal pouch-anal anastomosis and total thyroidectomy, later was complicated with acute abdomen for symptomatic desmoid tumour. Computed tomography of the abdomen showed a large intraperitoneal heterogenous mass with small bowel displacement and was confirmed by magnetic resonance imaging. An exploratory laparotomy and en-bloc resection of the tumour with an end ileostomy were performed.Results and discussionIntra-abdominal desmoid tumours usually present as a painless slow-growing mass, however, in severe form, it can cause bowel ischemia, intestinal obstruction, or deterioration of function in the ileoanal anastomosis, among post total colectomy. Surgery is indicated upfront in specific clinical scenarios namely complications (occlusion, perforation, or bleeding) or major cosmetic issues.ConclusionsDesmoid tumour, despite being benign, is challenging to manage due to its compressing nature. As a key point, the diagnosis of a desmoid tumour should be suspected and followed up closely in patients with a previous history of FAP in combination with extracolonic manifestation.

Fundic gland polyps related to diverse aetiologies show subtle morphological differences: a multicentre retrospective study.

Fundic gland polyps (FGPs) comprise 66% of all gastric polyps. Although they are usually non-syndromic, they may be associated with various syndromes, including familial adenomatous polyposis (FAP) or gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). We aimed to evaluate how histological features relate to distinct FGP subtypes. We performed a retrospective analysis of 118 FGPs from 109 patients for the architecture of fundic glands, microcyst lining, parietal cell hyperplasia and surface foveolar epithelial changes. Age, gender and history of FAP or GAPPS were collected. Based on combinations of histological features, three distinct patterns (A, B and C) of FGPs were delineated and correlated to the aetiologies. Non-syndromic FGPs were well-formed polyps composed of disordered fundic glands with intermediate-sized microcysts typically lined by a mixture of oxyntic and mucin-secreting cells (73%). Parietal cell hyperplasia (80%) and foveolar surface hyperplasia (78%) were common. FAP-associated cases demonstrated small microcysts that were predominantly lined by fundic epithelium (77%), with limited parietal cell hyperplasia (27%); foveolar hyperplasia was uncommon. GAPPS-related polyps were the largest, with prominent, mucin-secreting epithelium-lined microcysts (73%). Hyperproliferative aberrant pits were universally present, whereas parietal cell hyperplasia was uncommon. Pattern A was identified in most non-syndromic FGPs (74%) and in a minority of FAP-related FGPs (26%). The majority (82%) of FAP-related FGPs showed pattern B, but only 18% of non-syndromic FGPs did. Pattern C consisted exclusively of GAPPS-associated polyps. We conclude that, although FGPs sharesimilar histomorphology, subtle differences existbetween polyps of different aetiology. In the appropriate clinical setting, the recognition of thesevariations may help to consider syndromic aetiologies.

Life-threatening presentation of complicated intra-abdominal desmoid tumour in a young man without a family history of familial adenomatous polyposis.

ANZ Journal of SurgeryVolume 92, Issue 9 p. 2387-2389 IMAGES FOR SURGEONS Life-threatening presentation of complicated intra-abdominal desmoid tumour in a young man without a family history of familial adenomatous polyposis Nurojan Vivekanandamoorthy BMed, MD, Nurojan Vivekanandamoorthy BMed, MD orcid.org/0000-0002-5854-5308 Department of Surgery, Westmead Hospital, Sydney, New South Wales, AustraliaSearch for more papers by this authorJoseph Do Woong Choi BSc (Adv), MBBS, MPhil (Surg), Joseph Do Woong Choi BSc (Adv), MBBS, MPhil (Surg) orcid.org/0000-0001-9274-4821 Department of Surgery, Westmead Hospital, Sydney, New South Wales, AustraliaSearch for more papers by this authorJames Wei Tatt Toh MBBS, FRACS, James Wei Tatt Toh MBBS, FRACS orcid.org/0000-0002-0110-2629 Department of Surgery, Westmead Hospital, Sydney, New South Wales, Australia Westmead Clinical School, University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this author Nurojan Vivekanandamoorthy BMed, MD, Nurojan Vivekanandamoorthy BMed, MD orcid.org/0000-0002-5854-5308 Department of Surgery, Westmead Hospital, Sydney, New South Wales, AustraliaSearch for more papers by this authorJoseph Do Woong Choi BSc (Adv), MBBS, MPhil (Surg), Joseph Do Woong Choi BSc (Adv), MBBS, MPhil (Surg) orcid.org/0000-0001-9274-4821 Department of Surgery, Westmead Hospital, Sydney, New South Wales, AustraliaSearch for more papers by this authorJames Wei Tatt Toh MBBS, FRACS, James Wei Tatt Toh MBBS, FRACS orcid.org/0000-0002-0110-2629 Department of Surgery, Westmead Hospital, Sydney, New South Wales, Australia Westmead Clinical School, University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this author First published: 24 January 2022 https://doi.org/10.1111/ans.17497Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. Volume92, Issue9September 2022Pages 2387-2389 RelatedInformation

Cribriform-morular variant of papillary thyroid carcinoma with poorly differentiated features: report of a case and review of the literature

IntroductionCribrifrom-morular variant of papillary thyroid carcinoma (CMVPTC) is an uncommon thyroid neoplasm that occurs predominantly in women and is sometime associated with familial adenomatous polyposis (FAP). Some of these tumors may undergo dedifferentiation to poorly differentiated thyroid carcinoma (PDTC). We describe a rare case of this carcinoma in a women without a history of FAP.Case presentationA 49-year-old woman with a history of breast carcinoma presented with a thyroid mass. A CMVPTC was diagnosed after excision. There was no history of FAP. Histological examination showed classical features of CMVPTC in most areas, but about 20% of the carcinoma showed features of a poorly differentiated carcinoma with a solid pattern of growth, increase mitotic activity and a high Ki-67 proliferative index (25%). Immunohistochemical stains were positive for nuclear and cytoplasmic beta catenin staining. These special studies supported the diagnosis.ConclusionCMVPTC with dedifferentiation to PDTC is a rare carcinoma with only 4 previous documented cases in the literature. This aggressive variant of thyroid carcinoma is more common in females, as is CMVPTC, and is often associated with an aggressive biological course. The cases usually express nuclear beta catenin and estrogen, progesterone and androgen receptors have been reported in some cases. Some cases may have somatic alterations of the APC gene and TERT promoter mutations. These carcinomas may metastasize to lung, bones and lymph nodes. Because of its aggressive behavior, patient with this diagnosis should be treated aggressively to control disease spread and mortality from the carcinoma.

A Rare Case of Familial Adenomatous Polyposis

Familial adenomatous polyposis (FAP) is rare one.1 of colorectal cancer associated with FAP. It is a precancerous condition and is having 100 malignant potential. FAP is present in younger age group, so proper screening and prophylactic total colectomy is required. FAP is an autosomal dominant disease that results from mutation in the adenomatous polyposis coli (APC) gene located on chromosome5q21-22. One third of all cases of FAP have nil family history of FAP, and these cases are thought to be caused by a new germ-line mutation. The diagnosis of FAP is based on the detection of more than 100 adenomatous Colon polyps. We had a case of FAP in a 37-year-old man with history of abdominal pain and bleeding per rectum for 6 months.

Management of A Desmoid Tumor in Pregnancy: A Case Report

A desmoid tumor is a rare, non-metastasizing, locally aggressive, monoclonal proliferative disease of fibroblastic origin with a high recurrence rate. The etiology remains unclear. Desmoid tumors can be found in the abdominal wall, abdominal cavity, trunk and limbs. When sporadic, the abdominal wall is the most common site, particularly around the rectus abdominis muscle, with tumors tending to develop in young women of reproductive age or those who have suffered trauma, principally pregnant or postpartum women. Due to its unpredictable clinical course and high recurrence rate, the exclusive use of resection with a wide safety margin, the treatment of choice in cases of advanced tumors, has been questioned. This paper describes a case of a large desmoid tumor on the abdominal wall that developed in the 10th week of pregnancy in a 29-year-old patient with no history of familial adenomatous polyposis. Ultrasound showed that the tumor had increased around 158% during pregnancy. The patient underwent Cesarean section during which a mass of around 20 cm was detected between the anterior and posterior layer of the aponeurosis of the rectus abdominis muscle. Conservative management (no intervention) was adopted with follow-up imaging. Ultrasound-guided core biopsy was performed four and a half months after delivery, with histopathology revealing a spindle cell neoplasm, with possible musculoaponeurotic fibromatosis. Six months after childbirth, the tumor had decreased spontaneously by 40.5% in thickness and nine months following delivery the patient continues to be monitored under expectant management, with no complaints or symptoms. Although rare, obstetricians should be aware of the possibility of a desmoid tumor during pregnancy and should evaluate the best management option (surgery, pharmacological treatment or expectant management) according to the patient’s profile in order to avoid visceral complications, the need for extensive surgery with possible aesthetic and functional sequelae, and even iatrogenic complications.

Intra-abdominal fibroid lesion of colonic involvement

Fibroid is a benign lump of growth, occurring within or outside the uterus. It is a rarity for such growths to occur intra-abdominally. Such cases are of aggressive fibromatosis which are marked by the presence of desmoid tumours. It is most commonly seen in patients with a history of familial adenomatous polyposis (FAP) or past surgical procedures. As FAP has a wide fibroepithelial growth spectrum, the symptomatology and therefore the prognosis varies. Unpredictable clinical behaviour, varied location and non-specific presentation are the factors accounting to diagnostic difficulty. Therefore, misdiagnosing the disease is not uncommon. Here we report a case ofa26-year-old pregnant female presenting with lower abdominal pain and mass. Preoperative diagnosis was of uterine fibroids as per radiological evidence, but on exploration it turned out to be a large right colonic mass. The patient underwent right hemicolectomy. Histopathological reports confirmed morphological and immuno-histochemical features indicating fibromatosis. This fibromatous mass though intra-abdominal was not growing from the mesentery/mesocolon or the pelvis. It appeared to grow from the wall of the colon. This is a confirmatory presentation of true colonic wall fibromatosis which is deep and isolated form of intra-abdominal desmoid tumours. As this lesion was isolated in nature, the treatment of choice was surgical resection. It is essential to have a multi-disciplinary team approach in the management of such a patient. This improves the treatment and the prognostic outcomes. Keywords: Fibroid, Colon, Fibromatosis, Hemicolectomy, Desmoid Tumour

Medulloblastoma and familial adenomatous polyposis: Good prognosis and good quality of life in the long-term?

Mutations of the APC (adenomatous polyposis coli) gene correlate mainly with familial adenomatous polyposis (FAP), but can occasionally be pathogenic for medulloblastoma (MBL) wingless-related integration site (WNT) subtype, the course of which has only recently been described. We retrieved all patients with documented germline APC mutations and a diagnosis of MBL to examine their outcome, late effects of treatment, and further oncological events. Between 2007 and 2016, we treated six patients, all with a pathogenic APC variant mutation and all with MBL, classic histotype. None had metastatic disease. All patients were in complete remission a median 65months after treatment with craniospinal irradiation at 23.4Gy, plus a boost on the posterior fossa/tumor bed up to 54Gy, followed by cisplatin/carboplatin, lomustine, and vincristine for a maximum of eight courses. Five of six diagnostic revised MRI were suggestive of the WNT molecular subgroup typical aspects. Methylation profile score (in two cases) and copy number variation analysis (chromosome 6 deletion in two cases) performed on four of six retrieved samples confirmed WNT molecular subgroup. Four out of six patients had a positive family history of FAP, while gastrointestinal symptoms prompted its identification in the other two cases. Four patients developed other tumors (desmoid, MELTUMP, melanoma, pancreatoblastoma, thyroid Tir3) from 5 to 7years after MBL. Our data confirm a good prognosis for patients with MBL associated with FAP. Patients' secondary tumors may or may not be related to their syndrome or treatment, but warrant adequate attention when planning shared guidelines for these patients.

Polyp Progression in Paediatric Patients With Familial Adenomatous Polyposis: A Single-centre Experience.

Prophylactic colectomy at a premalignant stage is the cornerstone of management of familial adenomatous polyposis (FAP). Before surgery, colonoscopy surveillance is recommended in children with FAP. This study aimed to examine the natural history of FAP in children by evaluating adenoma progression and factors influencing timing of colectomy. Patients with FAP younger than 18 years at first surveillance colonoscopy and who had undergone more than 1 colonoscopy were identified. Demographic, endoscopic, genetic, and surgical data were retrieved. Cumulative adenoma (polyp) counts were obtained while accounting for any polypectomies during the study period. The rate of polyp progression and factors influencing the timing of colectomy were evaluated. Eighty-four patients (50% boys; mean age at first colonoscopy 13 years [standard deviation 1.97]) were identified, of which 83 had a family history of FAP. At first colonoscopy, 67 (79%) had <100 adenomas and 29 (35%) had colonic polyps identified despite rectal sparing. The median rate of polyp progression per patient was 12.5 polyps/year (range 0-145). Of the 45 (54%) patients who had undergone surgery, 41 (91%) underwent colectomy with ileorectal or ileodistal sigmoid anastomosis. Polyp progression did not alter the choice of surgical intervention in any patient. Our results suggest that adenoma number remains relatively stable in the majority of children under surveillance. Tailored surveillance intervals according to phenotype are a more appropriate strategy as recommended by recently published guidelines.

Laparoscopic spleen-preserving distal pancreatectomy for a solid-cystic intraabdominal desmoid tumor at a gastro-pancreatic lesion: a case report

BackgroundWe report a case of an intraabdominal desmoid tumor that occurred at a gastro-pancreatic lesion with spontaneous cystic features, and present the successful laparoscopic resection of the tumor.Case presentationA 20-mm retroperitoneal cystic mass with a solid component was found adjacent to the stomach and pancreatic body in a 52-year-old woman with no history of familial adenomatous polyposis. Laparoscopic spleen-preserving distal pancreatectomy with wedge resection of the stomach was performed, and complete resection was achieved without intraoperative and postoperative complications. Histopathological examination by immunohistochemistry enabled diagnosis of a desmoid tumor that had originated from the stomach and invaded the pancreatic parenchyma with a spontaneous cystic change. We herein report an extremely rare case of an intraabdominal desmoid tumor with a spontaneous cystic change.ConclusionRegardless of its rarity, desmoid tumor should be included in the preoperative differential diagnosis of a cystic intraabdominal mass, and laparoscopic function-preserving surgery may be an optimal treatment option.

Clinical Characteristics and Treatment of Intra-abdominal Aggressive Fibromatosis: A Retrospective Study of 16 Patients.

Background: This study aimed to investigate the clinical characteristics and treatment methods for intra-abdominal aggressive fibromatosis.Methods: We reviewed the clinical data from 16 patients who were diagnosed with intra-abdominal aggressive fibromatosis and were admitted to Peking Union Medical College Hospital between March 1983 and September 2018.Results: Among the 16 patients, 11 patients presented with a hard smooth abdominal mass with clear borders and a diameter of 4.3–25.0 cm. Six patients had a history of abdominal surgery and 3 patients had a history of familial adenomatous polyposis. Computed tomography imaging revealed a slightly dense mass with mild-to-moderate enhancement. Of all the 16 patients, 11 patients underwent surgical treatment and no recurrence occurred in 10 case after complete resection while recurrence occurred in 1 case after partial resection. Two patients underwent surveillance and 3 patients received cytotoxic drugs treatment, and no disease progression was observed via imaging during their follow-up.Conclusions: Intra-abdominal aggressive fibromatosis is histologically benign tumor with high local recurrence rate. Surgery is an effective treatment and complete resection is essential in reducing the local recurrence rate.

Select group of patients might benefit from early colonoscopic screening for colorectal cancer.

Recently, the American Cancer Society made a qualified recommendation to start colorectal cancer (CRC) screening at 45years of age in all average-risk individuals. In this study, our primary aim is to calculate the prevalence and also evaluate the predictors of increased prevalence of detected adenomas in the 40-49-year-old individuals undergoing colonoscopy. A retrospective cross-sectional study was performed using our endoscopy database. Study subjects included all 40-49-year-old patients undergoing their first colonoscopy at our institution from January 1, 2010 to September 30, 2017. Exclusion criteria included patients who underwent colonoscopy for overt gastrointestinal bleeding, inflammatory bowel disease, a history of familial adenomatous polyposis, hereditary non-polyposis CRC. Univariate analysis and multivariate analysis were performed to identify factors associated with increased adenoma detection rate (ADR). A total of 2059 patients were included in the study, and 317 of these patients had family history (FH) of CRC. Patients with FH of CRC had significantly higher ADR (27.8% vs. 19.7%, p = 0.001) as compared to those without FH of CRC. There was no significant difference in ADR in patients between 40-44 years and 45-49 years of age (17.7% vs. 21.4%, p = 0.058). On a multivariate analysis while adjusting for multiple patient and procedural variables, FH of CRC, male sex, BMI > 30kg/m2, chronic kidney disease, and age were associated with high ADR. Our study shows that in addition to FH of CRC, age, male sex, BMI, and CKD are independent predictors of increased ADR in patients between 40 and 49years of age.

Multifocality in a Patient with Cribriform-Morular Variant of Papillary Thyroid Carcinoma Is an Important Clue for the Diagnosis of Familial Adenomatous Polyposis.

Background: Cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC) is a rare subtype of PTC, which occurrs predominantly in young women. This disease much more frequently presents in patients with familial adenomatous polyposis (FAP). FAP is an autosomal dominant inherited disease, which arises from germline mutations in the adenomatous polyposis coli (APC) gene. To clarify the distinctive clinical features of CMV-PTC, a comparison study was performed between familial types and sporadic types. Methods: Between 2007 and 2018, 15 CMV-PTC patients underwent thyroidectomy in Samsung Medical Center. The clinical features of these patients were retrospectively reviewed. Results: All patients were women with a median age of 26 years (range 17-46 years). The median maximum diameter was 1.0 cm (range 0.4-3.5 cm). All tumors underwent immunostaining and showed nuclear and/or cytoplasmic staining for β-catenin. On ultrasonography, most nodules had benign-looking features (well-defined, hypoechoic, and oval to round shapes without calcification), but a few nodules had capsular invasion and taller than wide shape. On preoperative fine-needle aspiration cytology, five patients (33%) were diagnosed as CMV-PTC, nine (60%) as PTC, but one (7%) as follicular neoplasm or PTC-follicular variant. Six patients (40%) had FAP, and four of them had total colectomy due to FAP. Five of them had a family history of FAP or colon cancer, or thyroid cancer. Germline mutations in the APC gene were found in all six patients with CMV-PTC associated with FAP, and five of them had de novo mutations. All patients with FAP-associated CMV-PTC had multiple tumors. All CMV-PTC patients had excellent response to initial therapy. Conclusions: Because of the association between FAP or colon cancer with multifocal CMV-PTC, we confirm that mutational analysis of the APC gene and colonoscopy should be carried out in these patients when multiple thyroid tumors are found.

In patients with a positive family history of familial adenomatous polyposis can the condition be diagnosed from the presence of congenital hypertrophy of the retinal pigment epithelium detected via an eye examination: A systematic review.

In classic familial adenomatous polyposis (FAP) adenomas become malignant. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a retinal pigmented lesion and is the earliest and most common potential extraintestinal manifestation of FAP. This review aims to summarize and analyse all of the published data on CHRPE in patients with classic FAP and then ascertain whether these patients should undergo a relatively cheap and non-invasive dilated fundus examination to screen for CHRPE. Adhering to Preferred Reporting Items for Systematic Reviews and Meta Analyses guidelines our database search identified 102 relevant articles of which 13 were selected for further analysis. The percentage of FAP patients with CHRPE was found to be 80.00%, whereas the percentage of at-risk patients with CHRPE was 31.12%. Despite various statistically significant findings, CHRPE alone cannot be used as a surrogate for diagnosing FAP in those with a positive family history. The authors advocate a combined approach of eye examinations, colonoscopy and genetic testing.