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Background: Cardiac fibromas are extremely rare in adults. The preferred treatment is surgical resection, but antiarrhythmic medications or heart transplantation have also been used previously. The cardiac imaging, particularly MRI, can be useful to help delineate between primary cardiac tumors, and surgical factors such as the extent/size of the fibroma, involvement of the coronary arteries or mitral apparatus and amount of residual myocardium influence whether surgical resection is feasible., Case Presentation: A 42-year-old male presented with a wide-complex tachycardia, unresponsive to amiodarone. An echocardiogram was performed which showed a possible posterior wall mass. A cardiac MRI showed a well circumscribed lateral wall intracardiac fibroma, measuring 5.2 × 5.1 × 3.8 cm with preserved function. Surgical resection was successful, and he was discharged without a defibrillator., Conclusions: Cardiac fibromas are encapsulated tumors which do not infiltrate myocardium and should be surgically resected if possible., (© 2024. The Author(s).)

Cardiac papillary fibroelastomas (CPFs) are rare benign cardiac tumors more often involving the left-sided valves and related with threatening embolic complications. We report the case of a 35-year-old woman presenting with relapsing-remitting chest pain and elevated cardiac troponins. After a negative coronary angiography, an integrated imaging assessment based on echocardiography and cardiac magnetic resonance showed a pedunculated mass on the aortic valve causing an intermittent obstructive engagement of the right coronary ostium. A tailored surgical treatment was performed and the histopathological examination of the specimen revealed mesenchymal tissue with the characteristics of CPF., Competing Interests: Declaration of competing interest All authors do not have any financial or personal relationships with people or organizations that could inappropriately influence their work. No funding has been allocated to this project., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Objective: Pediatric cardiac tumors are rare and, among them, 90% are benign. Cardiac fibroma is the second most frequent tumor, after rhabdomyoma. The objective of this study is to report a case of cardiac fibroma diagnosed incidentally in a patient admitted with acute viral bronchiolitis., Case Description: A 5-month-old male infant was admitted to the pediatric emergency department with acute viral bronchiolitis requiring hospitalization. He presented a detectable respiratory syncytial virus in oropharyngeal swab, blood test with lymphocytosis and a chest radiography revealed cardiomegaly. Further cardiologic testing was performed detecting elevation of cardiac biomarkers, an electrocardiogram with alteration of left ventricular repolarization and echocardiogram with a heterogeneous mass in the left ventricular, with areas of calcification. A chest angiotomography suggested rhabdomyosarcoma or cardiac fibroma and a magnetic resonance showed a mass, with characteristics suggesting fibroma. The final diagnosis was made after two cardiac catheterizations for biopsy of the lesion, confirming cardiac fibroma by anatomopathological examination. Because the patient had moderate to severe systolic dysfunction, he was submitted to heart transplant., Comments: One third of cardiac fibromas are asymptomatic, generally diagnosed late through tests ordered for other reasons. The gold-standard test for definitive diagnosis is biopsy. Cardiac fibroma usually does not present spontaneous regression and, in most cases, partial or total surgical resection is necessary. When tumors are unresectable, heart transplantation should be indicated. It is essential to have detailed characterization of the cardiac mass to establish the most appropriate therapeutic approach for each patient.

Left ventricular tumour is a rare condition in children. The causes include vegetations, thrombus, and fibroma. 2-year-old asymptomatic female presented with an innocent heart murmur at 6 months of age. Subsequent follow-ups at 18 months of age showed left ventricular mass. Surgical pathology revealed "nodular fasciitis." This type of tumour has never been described in the heart before.

Primary cardiac tumours are very rare. Cardiac tumours in the perinatal period are even more uncommon with a prevalence of 0.0017% to 0.28% in autopsy series. The majority of benign cardiac tumours are cardiac rhabdomyomas, followed by cardiac fibromas. Another rare congenital heart disease is hypoplastic left heart syndrome (HLHS). Here we present a 21-week-old foetus diagnosed antenatally with HLHS on foetal echocardiogram. An autopsy done on the foetus following medical termination of pregnancy revealed a cardiac fibroma in the ventricular septum. It is very uncommon to have a combination of two congenital heart diseases. An extensive literature review revealed only three cases that had rhabdomyoma and associated HLHS. This case presented with cardiac fibroma which in early gestation would have resulted in left ventricular outflow obstruction leading to the development of HLHS. Small cardiac tumours which are difficult to detect by echocardiogram in early gestation can lead to the development of HLHS. A thorough and hierarchical autopsy examination of such cases can help in a better understanding of the relationship between HLHS and cardiac tumours., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: The association of Human Papilloma Virus (HPV) and Human Syncytial Virus (HSV) infection with inflammatory and potentially malignant disorders of the oral cavity (OPMD) is unknown. The aim of this cross-sectional study was to stablish the expression of the p16 INK4A and HSV proteins, to test potential correlation between those parameters in biopsies from clinically diagnosed oral lesions., Methods: Immunochemical analysis of 211 formalin-fixed, paraffin-embedded (FFPE) blocks from 211 individuals was provided. The clinical diagnosis included in the research were Oral lichen planus (N = 30), Oral Leukoplakia (N = 13) Mucocele (N = 25), Erosion/ulceration/ inflammation of mucosa (N = 8), Overgrowth of mucosa (N = 135)., Results: Two hundred eleven analyzed FFPE samples resulted with the median age of 58.5 years (the average age 54.0 years and SD ± 17 years). The female/male ratio was 2.3 (69.7% vs 30.3% respectively). All the samples positive for HSV also expressed p16 INK4A (p = 0.000), that's showed various levels of association with the diverse clinical diagnosis reaching the higher level in OM 49.1% (29 positive samples) and OLP 30.5% (18). p16 INK4A was associated with OLP at 30.5% (18), and fibroma 30.5%. HSV expression was mostly present in fibroma at 47.6% (10 positive samples)., Conclusion: HSV and p16 INK4A positivity in relation to diagnosis of the biopsies showed statistically most often p16 INK4A in OLP and fibroma. The results of co-expression of p16 INK4A and HSV in mucocele and fibroma in oral mucosa suggest a cooperation between the molecular alterations induced by these two viruses. Squamous papilloma samples positive for p16 INK4A were also positive for HSV, suggesting that the putative pro-oncogenic action of HSV could be an early event., (© 2024. The Author(s).)

A patient without a diagnosis of diabetes mellitus presented to the hospital due to a fall and hypoglycaemia on admission. The patient was found to have recurrent nocturnal fasting hypoglycaemia. CT revealed a large lung mass consistent with a solitary pleural fibroma, a rare tumour associated with insulin-like growth factor 2 (IGF-2) production. This case is an important reminder that potential causes of hypoglycaemia should be considered in non-diabetic patients., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Cardiac papillary fibroelastoma is a rare benign tumor, which is often mistaken for a vegetation. Predominantly asymptomatic, it can cause life-threatening complications. Although rare, mobile papillary fibroelastoma movement between affected valves may hamper valve closure and damage the valve, leading to valvular regurgitation. Endothelial damage increases the risk of developing infective endocarditis. We report a rare case of a highly mobile papillary fibroelastoma originating from the atrial septum touching the mitral valve, leading to mitral regurgitation and, eventually, infective endocarditis., Case Presentation: A 26-year-old woman with suspected infective endocarditis was referred to us from a previous hospital after having experienced intermittent fever for a month. Before the fever, she had been experiencing exertional dyspnea. In addition, she had undergone a cesarean section two weeks before this admission. A transthoracic echocardiogram showed a mobile mass originating from the atrial septum touching the mitral valve with severe mitral regurgitation. Computed tomography revealed an occluded right profunda femoris artery with an embolus. Infective endocarditis associated with a mobile vegetation with high embolic risk was diagnosed, and urgent surgery was performed. Following the surgery, examinations revealed papillary fibroelastoma originating from the atrial septum and infective endocarditis of the mitral valve. The histopathological examination confirmed that a mass initially thought to be a mobile vegetation was a papillary fibroelastoma. The postoperative course was uneventful except for pericarditis. There has been no recurrence of infective endocarditis or papillary fibroelastoma., Conclusions: The highly mobile papillary fibroelastoma was thought to have caused both chronic mitral regurgitation and infective endocarditis. Mobile papillary fibroelastomas can cause endothelial damage to nearby valves and predispose patients to infective endocarditis., (© 2024. The Author(s).)

Competing Interests: Conflict of interest: There are no relevant disclosures or conflicts of interest by any of the authors.

Background: Nonossifying fibroma is common in children and adolescents, and nonossifying fibroma with genu valgum is rare in the clinic. This article evaluated the effectiveness of treatment in a case of nonossifying fibroma of the lower femur with genu valgum., Case Presentation: A 16-year-old girl complained of pain in the lower part of her right thigh for one year. She was diagnosed as non ossifying fibroma of the right femur with secondary valgus deformity of the right knee, and was treated in our hospital. We performed curettage, bone grafting and internal fixation,and corrected the valgum deformity at the same time. The patient's incision healed well, the pain was disappeared, and the mechanical axis of lower limbs was corrected. No tumor recurrence was found on X- ray examination one year after operation, and the fracture end was healed. The patient could walk normally, and she was satisfied with her limb function., Conclusion: Nonossifying fibroma with genu valgum is rare in the clinic. The patient was satisfied with our treatment, which achieved a good curative effect., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Background: Gorlin-Goltz syndrome is a rare autosomal dominant disorder resulting from PTCH1 gene mutation and presents with variable clinical manifestations. The co-occurrence of medulloblastoma and cardiac fibroma in Gorlin-Goltz syndrome is extremely rare. The present article discusses a patient diagnosed with Gorlin-Goltz syndrome and concurrent medulloblastoma and cardiac fibroma., Case Presentation: A 19-month-old boy transferred to our hospital after a radiological finding of posterior fossa lesion and hydrocephalus. A pericardial mass was noted after persistent arrhythmias. Both tumors were excised for definitive management. The histopathological sections were diagnostic of desmoplastic nodular medulloblastoma, WHO grade 4 and cardiac fibroma. Molecular and genetic investigations confirmed a pathogenic variant of PTCH1 gene, suggestive of autosomal dominant Gorlin-Goltz syndrome., Conclusion: Co-occurrence of medulloblastoma and cardiac fibroma is extremely rare and poses a management dilemma. Genetic counseling and antenatal screening are of utmost importance to early detect and manage patients with Gorlin-Goltz syndrome., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Primary cardiac tumors in children are very rare and may be associated with severe arrhythmias and sudden infant death syndrome. These cardiac arrhythmias vary depending on the location and size of the tumor. Sixty-four percent of children with cardiac fibroma, the second most common benign cardiac tumor in children, have ventricular arrhythmias, affecting therapeutic management and risk profile of these children. We report on two siblings with cardiac fibromas whose clinical presentations differed depending on their locations and size of the tumors. The first child, a three-year-old girl, was diagnosed with a cardiac fibroma in the left ventricle at the age of 8 months after surviving resuscitation due to ventricular fibrillation. Secondary prophylactic implantation of an ICD was performed. On propranolol, no further malignant arrhythmias have occurred to date. The seven-month-old brother was diagnosed postnatally with a cardiac tumor adjacent to the right ventricle. A few weeks after birth, the boy had refractory supraventricular tachycardia and ventricular arrhythmia that only resolved with amiodarone. In genetic testing, Gorlin-Goltz syndrome was diagnosed in both children. Conservative pharmacological therapy is a therapeutic strategy for asymptomatic patients with cardiac fibromas. The anti-arrhythmic medication depends on the location of the tumor. Implantation of an ICD should be performed in cases of malignant arrhythmias. In rare cases, there is an association between cardiac tumors and genetic syndromes, such as Gorlin-Goltz syndrome. These should always be considered when such a tumor is diagnosed., (© 2023. The Author(s).)

Background: Hyaline fibromatosis syndrome is a rare progressive autosomal recessive connective tissue disorder caused by a mutation in the ANTXR2/CMG2 gene. According to its severity, patients may present with skin nodules or visceral infiltration, which carries a poor prognosis. Hypercalcemia has not been reported as a presenting feature of this syndrome. Stimulation of osteoclasts by inflammatory factors and immobilization--induced hypercalcemia have played role in the pathophysiology. To our knowledge, this is the first report of hypercalcemia-associated hyaline fibromatosis syndrome., Case Presentation: Here, we describe cases of two Sudanese patients, a boy aged 9 months and a girl aged 3.5 years with hypercalcemia as an associated presenting feature of hyaline fibromatosis syndrome. Other features include gingival hypertrophy, painful joint swellings, and restriction of movement, which was misdiagnosed as juvenile rheumatoid arthritis. Workup showed normal phosphate, normal to mildly elevated parathyroid hormone, low vitamin D 25. Genetic testing confirmed the mutation of the ANTXR2/CMG2 gene. Both patients responded well to medical therapy for hypercalcemia, but one of them with the severe form of juvenile hyaline fibromatosis died due to sepsis, while the other one has maintained normocalcemic status., Conclusions: These cases highlight the rare presentation of this syndrome and reflect the importance of biopsy and genetic testing in reaching the diagnosis, especially when the clinical presentation can mimic other inflammatory bone disorders. Calcium levels should be checked in such cases., (© 2023. The Author(s).)

A 72-year-old female had persistent severe chest pain while climbing stairs. She was diagnosed as having acute coronary syndrome, and underwent an emergency coronary angiography (CAG). The right coronary artery (RCA) ostium was sub-totally occluded. Echocardiography revealed a 10 mm mobile mass at the right coronary cusp of the aortic valve. To avoid total obustruction on two drug eluting stents were placed at the RCA ostium so as to have the proximal end protrude into the right Valsalva sinus. Thus, her hemodynamic condition was stabilized. The tumor was surgically resected and the stents were easily removed. Pathologically, the tumor was papillary fibroelastoma. Postoperative aortic regurgitation was minimal echocardiography, and CAG showed normal RCA.

Competing Interests: Competing interests: None declared.

Rationale: Sex cord-stromal tumors are always found in ovary, but the occurrence of this kind of tumor at extraovarian locations is extremely rare. Up to now, the case concerning fibrothecoma of broad ligament with minor sex cord elements has not been reported, and it is extremely challenging to diagnose before surgery. In this case report, we summarized pathogenesis, clinical features, laboratory finding, imaging studies, pathology, and therapeutic schedule of this tumor, with the aim of raising awareness and attention to this type of disease., Patient Concerns: A 45-year-old Chinese woman was referred to our department with intermittent lower abdominal pain for about 6 years. On examination, both ultrasonography and computed tomography revealed she had a right adnexal mass., Diagnosis: Based on the results of histology and immunohistochemistry, the final diagnosis was confirmed as fibrothecoma of broad ligament with minor sex cord elements., Interventions: This patient underwent laparoscopic unilateral salpingo-oophorectomy with excision of the neoplasm., Outcomes: Eleven days post-treatment, the patient complained that the symptoms of abdominal pain was disappeared. There is no evidence of disease recurrence 5 years after laparoscopic surgery according to the consequences of radiologic examination., Conclusion: The natural history of this kind of tumor is uncertain. Although main treatment of this neoplasm might be surgical resection and good prognosis can be achieved, we believe that long-time follow-up is extremely important in all patients diagnosed as fibrothecoma of broad ligament with minor sex cord. Laparoscopic unilateral salpingo-oophorectomy with excision of the tumor should be recommended to these patients., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Cardiac tumors remain rare in children with benign pathologies predominating. Indications for surgical management often result from compromised ventricular chamber size, biventricular outflow tract obstruction, impaired ventricular function, or the presence of medically refractory dysrhythmias. We present a case of a six-month-old infant with two intracardiac fibromas originating in the interventricular septum. The fibromas were causing significant biventricular outflow obstruction. The patient successfully underwent tumor resection on cardiopulmonary bypass The literature on pediatric cardiac tumors is reviewed. Multi-disciplinary medical planning is necessary for successful anesthetic and surgical treatment of this high-risk patient population.

Background: There are few reports of trigger wrist in the literature, as it is a rare pathology. Furthermore, various authors report that it is also hard to diagnose. It manifests with neurological symptoms at the affected wrist, which are usually induced by wrist movement, and can lead to partial or full loss of wrist function and sensitivity. The reason for reporting this specific case is that it was hard to differentiate between trigger finger and trigger wrist by clinical symptoms; no pathology was palpable or clearly seen on magnetic resonance imaging scan of the wrist. We propose a new diagnostic statement relative to this pathology., Case Presentation: A case of a 45-year-old white slavic man with trigger wrist associated with carpal tunnel syndrome, caused by a fibroma of the flexor tendon sheath, is reported. Despite careful clinical examination, it was not possible to differentiate between trigger finger and trigger wrist. Magnetic resonance imaging was performed to arrive at the right diagnosis but did not reveal any pathology in the wrist area. Carpal tunnel release was performed with a fibroma identified and excised. Wrist function was maintained well; no signs of carpal tunnel syndrome were seen at last follow-up., Conclusions: Trigger wrist can be misdiagnosed as trigger finger even if adequate clinical evaluation is performed, and this can lead to inadequate treatment. We state that, when clinical symptoms of both trigger wrist and trigger finger are present, except painful palpation of the A-1 pulley region, the case should be referred to as trigger wrist., (© 2022. The Author(s).)

Cardiac fibromas are rare primary tumors that can cause significant morbidity and mortality. There has not been a large clinical case review since 1994. This study provides an updated analysis of clinical impact, thereby enhancing understanding, increasing awareness, and revealing important factors in the diagnosis and management of cardiac fibromas. A retrospective case series was conducted at a tertiary care institution by reviewing radiology, surgical and pathology archives (1964 to 2020). Cases were included if cardiac fibroma was diagnosed through imaging or pathology. Demographics, symptomatology, electrophysiologic data, radiographic findings, pathology, interventions, and outcomes were examined. A total of 26 patients with cardiac fibromas were identified, including 12 women. The median age was 20.5 years (0 days to 72 years). Symptoms included palpitations (commonly due to ventricular tachycardia, 31%), syncope (15%), angina (15%), heart failure (12%), emboli (4%), and murmur (27%). One patient had Gorlin syndrome. A total of 22 patients were diagnosed through imaging, 15 of whom were biopsy-confirmed. A total of 9 patients were initially observed. A total of 2 eventually had surgery, 1 was lost to follow-up, 3 were asymptomatic, 1 had heart failure and atrial fibrillation, and 1 had atrial fibrillation and tachy-brady syndrome, requiring ablation and pacemaker placement. A total of 19 underwent resection. A total of 4 required complex operations, 1 required a second resection, and 1 operative death occurred. In conclusion, cardiac fibromas primarily affect the pediatric population; however, this study demonstrates a significant prevalence in adults. Ventricular tachycardia is common, and multimodality imaging is diagnostically sensitive. Resection is largely successful in symptomatic patients. Surveillance may be appropriate for asymptomatic patients., Competing Interests: Disclosures The authors have no conflicts of interest to declare., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Ovarian fibroma is the most common benign pure stromal tumor. It has no specific clinical manifestation, most of which are pelvic or adnexal masses. 10-15% of cases with hydrothorax or ascites, after tumor resection, hydrothorax and ascites disappear, known as Meigs Syndrome. The elevated level of CA125 in a few patients was easily misdiagnosed as ovarian malignant tumor. A case of bilateral Ovarian fibroma associated with Meigs Syndrome is reported and the literature is reviewed in order to improve the understanding of the changes and avoid misdiagnosis., (© 2022. The Author(s).)

An otherwise healthy young man was referred to the rheumatologist because of bilateral proximal interphalangeal (PIP) joint enlargements. The main concern was excluding the presence of inflammatory arthritis. Physical examination revealed bilateral PIP finger joints (II-IV) swellings and cutaneous thickenings in adjacent areas. The specificity of this case was the patient who appeared in the physician's room with his violin suitcase pointing to his profession even from the first site. Complete blood count with leucocyte differentials appeared without changes. Radiographics failed to show joint fluid or bony changes. All immunological markers (RF, anti-cyclic citrullinated peptide) and laboratory data (Erythrocyte sedimentation rate, C-reactive protein, etc) were within the reference ranges or negative. After exclusion of rheumatoid and other inflammatory arthritis, and considering the occupation of the patient and demographics the diagnosis of a rare condition-pachydermodactyly was made., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Ovarian sex cord-stromal tumors (OSCTs) are rare ovarian tumors that can develop from sex cord, stromal cells, or both. OSCTs can be benign or malignant. Bilateral and/or unilateral ovarian fibromas, a type of OSCT of the stromal cells, have been reported in individuals diagnosed with nevoid basal cell carcinoma syndrome (NBCCS). Calcified ovarian fibromas have been reported in 15-25% of individuals diagnosed with NBCCS while 75% of those cases occur bilaterally. The average age at diagnosis of OSCT/ovarian fibromas in patients with NBCSS is in the second to third decade compared with age 50 in the general population. Ovarian tumors are rare in pediatric populations., Methods: The patient is a 5-year-old female diagnosed with bilateral ovarian fibromas at age 4. Multigene panel for the patient and subsequent targeted molecular evaluation of parents were completed. Histological evaluations on the surgically resected ovaries were performed for microscopic characterization of fibromas., Results: Germline testing identified de novo heterozygous novel likely pathogenic variants in PTCH1 gene, exon 12 deletion, and an SMARCA4 splicing variant c.2002-1G > A. Microscopic examination of bilateral tumors was consistent with an ovarian fibroma., Conclusions: To our knowledge, this is the first report of bilateral benign ovarian fibroma in a child with a diagnosis of nevoid basal cell carcinoma syndrome (NBCCS) with a potential predisposition to Rhabdoid Tumor Predisposition Syndrome (RTPS)., (© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.)

Papillary fibroelastomas (PFE) are benign neoplasms, mostly located on valvular surfaces with high embolic potential. This study presents a 27-year single institutional experience on surgical treatment of PFE in an adult patient- cohort with long-term follow-up. This study was approved by the institutional review board. Date and number of IRB approval: 11/23/2017, Institutional Review Board approval number A2014-0149. The need for individual patient consent was waived. We retrospectively evaluated all patients who underwent cardiac surgery for suspected space-occupying lesions in the observation period between June 1991 and June 2018 at our hospital. Clinicopathological features, imaging characteristics, surgical procedures and disease outcome were analyzed. 120 patients were diagnosed with various primary/secondary cardiac tumors and histology confirmed 21 PFEs were found in 16 patients. There was no significant age difference between patients with valvular vs nonvalvular PFEs (P = 0.26). Valvular lesions were found in aortic valve (n = 6), mitral valve (n = 2) and tricuspid valve (n = 1). Nonvalvular PFEs were found in right atrium (n = 2), left ventricle (n = 2), left atrial appendage (n = 2) and aortic wall (n = 1). Valvular lesions were significantly smaller in size compared to non-valvular lesions (P = 0.0013). Left-side PFEs were associated with a high embolization episodes (10/13 patients, 77%) not related to the size. One patient died in-hospital. All other patients were discharged out of the hospital postoperative. Follow-up was performed regularly for a median of 2.8 years (range 0.1-11 years) postoperative. Nonvalvular PFE tended to be larger in size and at least when located on the left sided heart had equally high propensity to embolize compared to valvular PFE. We strongly advocate surgical excision in all left-sided PFE., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Management of familial adenomatous polyposis (FAP) is guided by the cumulative risk of colorectal cancer (CRC) and aggressive fibromatosis/desmoid (AF/D). The first non-Caucasian FAP cohort with cumulative risk estimates for CRC and AF/D shows distinct differences with the Caucasian and other Asian cohorts. The strong correlation between the adenomatous polyposis coli (APC) mutation location with the FAP phenotype and the geoethnic differences in APC mutation spectrum, genetic constitution, lifestyle and sporadic CRC rates, mandates the use of population-specific cumulative risk estimates for CRC and desmoid for counselling and risk management. On genotype-phenotype correlation in 83 individuals with classical FAP and a confirmed pathogenic/likely Pathogenic (P/LP) APC variant (n=76) or obligate carrier of the family variant (n=7), we observed a high cumulative CRC risk of 40% and 85% by 40 and 60 years, respectively. The observed 30% cumulative risk by 50 years for desmoids was higher than previous European and Asian cohorts and was significantly associated with prophylactic surgery (OR: 4.58, 95% CI 1.06 to 19.78) and APC mutation 3' of codon 1309 (OR: 13.07, 95% CI 3.58 to 47.56) and also 3' of codon 1444 (OR: 8.0, 95% CI 1.83 to 34.94). Global cooperation is required to establish FAP genotype-phenotype associations and population-specific risk estimates to guide genetic counselling and risk management., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Cardiac fibromas are the second most common benign primary tumour of the heart in the children; the clinical features include chest pain, arrhythmia, low cardiac output due to outflow tract obstruction, and sudden cardiac death. Sports are associated with an increased risk for sudden death in athletes who are affected by cardiovascular conditions predisposing to life-threatening arrhythmias. We present a case report of 10-year-old asymptomatic boy who was referred to the paediatric cardiology department by his general practitioner for cardiac examination before participation in competitive sports. The electrocardiogram showed premature ventricular contractions originated from inferior of left ventricle. A mass was detected by 2D transthoracic echocardiography, and it was found to be compatible with fibroma on MRI. In some cases, cardiac tumours are asymptomatic as in our patient. Electrocardiogram abnormalities require detailed cardiac imaging with echocardiogram, and if necessary CT/MRI. In this article, we emphasise that detailed cardiac examination of individuals before participating in competitive sports is vital.

We report the case of a 3-year-old girl referred to our hospital dentistry service, from a public health centre, due to a 4-week-old swelling in the area of the hard palate, causing displacement of the deciduous tooth and the appearance of an interincisal diastema. The clinical characteristics suggested the possibility of a reactive fibroma and we decided to intervene surgically by means of an excisional biopsy. Histology confirmed the presumptive diagnosis. Prompt referral and early surgical care spontaneously favoured both repositioning of the displaced primary tooth and closure of the diastema. This is an infrequent lesion in paediatric patients., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Meigs syndrome is defined by the presence of a benign ovarian tumor, ascites, and pleural effusion (predominantly on the right side). A characteristic sign of Meigs syndrome is the complete disappearance of exudate after surgical resection of the ovarian tumor., Case Report: We present a case report of a 58-year-old patient admitted for an advanced ovarian tumor with pleural effusion, ascites, and tumor marker elevation typical for ovarian cancer. Cytological examination of ascites and pleural effusion was repeatedly negative for malignancy. Histopathological examination of the bio-psied tissue was concluded as low-grade mesenchymal neoplasia. The second opinion of histopathological examination was concluded as low grade fibroblastic pelvic tumor without the possibility of exact specification. Dia-gnoses of desmoid fibromatosis and low-grade fibromyxiod sarcoma (less likely) were considered. Surgical resection was indicated, and a large tumor with numerous adhesions to the uterus, bladder, and thin loops with a noticeably thickened peritoneum were perioperatively described. Histologically, left ovarian fibroma with productive peritonitis and sanguine-induced ascites was dia-gnosed. Due to the clinical findings and the result of the histopathological examination, the case was classified as Meigs syndrome. Two months after the surgery, the ascites and pleural effusion disappeared, and the tumor marker levels normalized., Conclusion: The present case report documents that it is always necessary to consider diseases other than those most likely at the outset, as the treatment algorithm and prognosis of these rare diseases may differ significantly.

Introduction: Tuberous sclerosis complex (TSC) is a rare autosomal dominant condition characterized by cutaneous, cerebral, and other multiorgan involvement. Aneurysms due to TSC pathogenic mechanism are rarely present, mainly aortic, renal, or intracranial and very few associated with peripheral circulation. A TSC patient, aged 31 years, who developed brachial and subclavian arteries aneurysms is presented. The question of a random association of the aneurysms with TSC versus aneurysms within pathogenic released mammalian target of rapamycin (mTOR) pathway effect was raised., Case Presentation: Patient's file, available from the age of six months, was analyzed for demonstration of the TSC diagnosis. Patient was examined, and cerebral magnetic resonance imaging (MRI) was repeated. Surgery and angiographic reports and images were reviewed. Pathology of the aneurysmal wall available from surgery was reexamined and special stainings and immunohistochemistry markers were applied. Genetic characterization of the patient was performed. Definite TSC was diagnosed based on major criteria [ungual fibromas, shagreen patch, cortical tubers, subependymal nodules (SENs), subependymal giant cell astrocytoma (SEGA)], minor criteria (confetti skin lesions, dental enamel pits, gingival fibromas), genetic result showing heterozygous variant in exon 8 of TSC1 gene (c.733C>T-p.Arg245*). Pathology analysis revealed markedly thickened aneurysmal wall due to smooth muscle cells (SMCs) proliferation in media and neoformation vessels with similar characteristics in the aneurysmal wall., Discussions and Conclusions: This is a rare case with aneurysms related to TSC, with an exceptional peripheral localization. Pathology exam is the key investigation in demonstrating the TSC-related pathogenic mechanism. A literature review showed 73 TSC cases presenting aneurysms published until now.

Introduction: Primary cardiac tumors are rarely seen in the general population and only a subset are classified as cardiac papillary fibroelastoma., Case Presentation: A 59-year-old female that presented for unresponsiveness and cardiac arrest required 4 rounds of cardiopulmonary resuscitation and intubation. Laboratory investigations showed uncompensated respiratory acidosis, hyperkalemia, and elevated troponins. A chest computed tomography angiogram illustrated an acute right pulmonary embolism and a right atrial filling defect. Furthermore, an echocardiogram demonstrated a normal ejection fraction and a large, pedunculated, mobile, and non-valvular echodensity that was attached to the right atrium endocardium. Therefore, the patient was started on a heparin infusion and catheter-directed thrombolysis; however, the mass persisted. A surgical excision was performed, and a 40 mm was removed. The patient was diagnosed with a papillary fibroelastoma based on the clinical symptoms, imaging, and histological findings., Conclusion: This patient's papillary fibroelastoma had multiple rare features including right atrial origin, large size, non-valvular location, and developed symptoms. Although this disease can be initially fatal, the patients typically have a favorable prognosis after a successful excision.

Primary cardiac tumors are one of the rare causes of intracardiac masses in pediatric population. Cardiac papillary fibroelastomas are benign cardiac tumors with predilection for valvular endocardium, and the presentation is dictated by the cardiac structure involved and the tumor characteristics. We report an infant with cardiac papillary fibroelastoma manifesting as an asymptomatic left ventricular outflow tract mass. This case is being presented to emphasize the rare occurrence of cardiac papillary fibroelastoma in pediatric population and to be cognizant of this entity when considering differential diagnosis of intracardiac masses in this subgroup.

Abstract: Plexiform fibromyxoma (PF) is a rare mesenchymal neoplasm which can be misdiagnosed as the gastrointestinal stromal tumor. This tumor almost formed a lobulated intramural/submucosal mass in the gastric antrum and prepyloric area. It was considered as a benign tumor that exhibited no recurrence, metastasis, or tumor-related mortality. In this study, we reported 2 cases of gastric PF. The first case was a PF patient coexisting with gastric adenocarcinoma. The second case occurred in the gastric upper body close to gastric fundus. They underwent distal gastrectomy and laparoscopic partial gastric resection, respectively. Both of them exhibited a plexiform growth pattern in the submucosa, muscularis propria, and subserosal adipose tissues. The nodules were composed of abundant myxoid or fibromyxoid matrix riching in small thin-walled blood vessels and bland-looking spindle cells. The first case partially showed staggered growth pattern of PF and adenocarcinoma. Immunohistochemically, the spindle cells were diffusely immunoreactive for SMA and vimentin, and focally immunoreactive for CD10. It was important to distinguish the PF from other spindle cell tumors involving the stomach., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.)

Paediatric cardiac tumours are rare, often benign and carry associations with genetic conditions. Cardiac fibromas are mainly composed of fibroblast and connective tissue . They can lead to symptoms due to obstruction of blood flow or arrythmias. In this case, we report an 8-month-old girl child who presented to paediatric cardiology office for cardiac evaluation given a family history of Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, found to have a large 4×4×6 cm fibroma in the apical lateral free wall of the left ventricle and later presented to the emergency department with cardiac arrest., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)