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Nasal chondromesenchymal hamartoma: an axial CT image (a) is showing a mildly lobulated, partially calcified soft-tissue mass (arrow) within the right nasal cavity, producing a mass effect and bony remodelling without frank bone destruction. A coronal T 2 weighted (b) MR image is showing a heterogeneous, slightly hyperintense mass (arrow).
Source publication
Hamartomas are tumors composed of mesenchymal tissues such as cartilage, fat, connective tissue and smooth muscle, and can be found in virtually any organ system. These masses commonly develop sporadically, but are also seen in certain syndromes such as tuberous sclerosis or Carney triad. While their imaging appearance varies depending on the organ...
Contexts in source publication
Context 1
... are usually unilateral and often present with solid and cystic components. 17 Calcification is a common finding and has been reported in about 45-50% of the cases on CT (Figure 5a). 17,19 NCMHs have variable enhancement patterns on MRI. ...
Context 2
... NCMHs have variable enhancement patterns on MRI. Owing to their cystic nature, NCMHs are usually isointense and hyperintense on T 1 and T 2 weighted images, respectively ( Figure 5b). 19 Radiological features that suggest an aggressive behaviour are erosion of the surrounding bone, cortical thinning, displacement and in- tracranial extension through the cribriform plate. ...
Citations
... In CT studies, hamartomas typically present as single, well-defined nodules that are smoothsurfaced and round or lobulated. The radiographic hallmark of chondroid hamartoma is a fatty density with popcorn-like calcifications [1,3]. MCH is a rare and often bilateral growth in which largely primitive mesenchymal cells proliferate, forming multiple cysts and nodules [2]. ...
Pulmonary hamartoma is the most commonly resected benign neoplasm of lung. The mesenchymal cystic subtype is a rare and often bilaterally occurring variant composed of multiple cysts and nodules. Herein, we present an asymptomatic 70-year-old woman with a large and mostly cystic growth of right hilar region. Computed tomography of the chest and fluorodeoxyglucose positron emission tomography/computed tomography imaging traced its origins to right middle lobe. Overall features suggested primary lung cancer or perhaps other cystic lung disease.
Because transbronchial lung biopsy failed to establish a histologic diagnosis, right middle lobectomy was undertaken by video-assisted thoracoscopic surgery. The gross surgical specimen harbored a single and sizeable (8.0 × 4.0 cm) cystic lesion containing multiple yellow-white nodules. A diagnosis of mesenchymal cystic and chondroid hamartoma was ultimately rendered. This particular case is noteworthy, given the initial clinical resemblance to primary lung cancer.
... 1 Hamartomas can occur anywhere in the body and typically are detected in the lung, skin, breast, colon, and other organs and rarely in the nervous system. 2 The most well-known hamartoma of the nervous system is hypothalamic hamartoma, 3 commonly occurring in children, with a prevalence of 1:200,000 4 and consisting of a large, disorganized ganglion cell, in a well-circumscribed lesion on the third ventricle floor, originating from the tuber cinereum and inferior hypothalamus, and accounting for several neurologic, endocrinologic, cognitive, behavioral, and psychiatric comorbidities. 4 Spinal hamartomas are extremely rare and, although they can occur at any age (cases have been reported in the fetus, 5 neonate, 6 infant, 7 and elderly 8 ), children are most affected, especially in the setting of genetic syndromes 7,9 (mainly neurofibromatosis type 1) Key words -Nervous system hamartoma -Neurofibromatosis -Rare spinal lesions -Spinal hamartoma -Spine surgery -Tumor-like lesions and developmental anomalies. 10,11 Sporadic spinal hamartoma in adults is an exceptional pathologic entity, with only 7 cases 8,[12][13][14][15][16][17] described to the best of our knowledge. ...
Sporadic spinal hamartomas in adults are extremely rare tumor-like lesions, without defined guidelines of treatment. The aim of this study is to investigate the peculiar features of this pathologic entity to support a more accurate diagnosis and management. A comprehensive and detailed literature review of sporadic spinal hamartomas in adults, including a personal case, was performed. Demographic (sex and age),clinical (presenting symptoms), radiologic and pathologic(size, localization, dural and spinal cord relationship of lesion) features, as well as treatment (time to surgery,extent of resection, perioperative and postoperative complications) and outcome (clinical) data were analyzed. Seven studies, including 7 patients, were eligible for the review. A personal case was also added. Sporadic adult spinal hamartomas equally affect males and females, in a range of age from 18 to 75 years; sensory radicular deficits were detected in all patients at clinical onset; thoracic segment (4/8) of the spine and intradural compartment (6/8) were most involved. All patients underwent surgery and just one experimented postoperative complication; gross total resection was achieved in only 3 patients, mainly in an extradural localization; clinical improvement at last follow-up was reported in all but 1 patient. Spinal hamartomas in adults may sometimes account for progressive worsening of neurologic symptoms and lead to potentially irreversible neurologic deficit; therefore, prompt and adequate diagnosis and treatment are mandatory. Surgical resection represents the only curative treatment and is indicated for symptomatic lesions to achieve neurologic symptoms restoration or arrest/prevent their progressive deterioration.
... The characteristic attributes of hamartomas are that they are benign and non-encapsulated, exhibit a selflimiting growth potential, cease to grow at some point of course, and do not infiltrate into adjacent tissues [3]. The pathogenesis of hamartomas is still obscure. ...
Hamartomas are tumor-like abnormalities typified by the presence of cellular proliferation indigenous to the native site. However, hamartomas maintain growth cessation without the potential for further growth or malignant transformation. Hamartomas are commonly seen in the lungs, kidney, liver, and spleen and rarely occur in the orofacial region. Various hamartomatous oral lesions include hemangiomas, lymphangiomas, tori, exostosis, dens invaginatus, dens evaginatus, odontomas, nevi, and cherubism. Infantile hemangiomas are benign vascular tumors that emerge soon after birth and experience rapid growth within the first year. Oral hemangiomas affect up to 6.4% of infants and are more common on the ventral surface of the tongue, as opposed to oral vascular malformations, which are more prevalent on the lips. It also has a 3:1 female-to-male predominance. Afterward, their growth usually stabilizes and enters a prolonged, incomplete involution phase. Uncomplicated hemangiomas generally exhibit spontaneous resolution, whereas few can leave behind scars and telangiectasias on the external surface of the skin on which it occurs. Thus, lesions located in anatomically sensitive regions necessitate vigilant surveillance and treatment. This paper deals with an asymptomatic swelling of the upper lip in a four-year-old female child but with problems in aesthetics, speech, and feeding. A thorough history, clinical examination, positive diascopy, ultrasonography, and histopathology confirmed the diagnosis of infantile hemangioma.
... Hamartomas are benign, congenital, embryonic and multi-tissue tumors [1]. They can occur almost anywhere in the body, including the lungs, heart, skin, brain, breast, or other areas [2]. There have been few reports of the orbit [3]. ...
We report the case of a male newborn, eleven days old, born in a context of dystocic delivery, but without notion of resuscitation or oxygen therapy. He was referred for protrusion of the left eyeball observed at birth. The right eye examination was normal. In the left eye we found a congenital, axile, irreducible and inflammatory grade III proptosis with corneal dystrophy. The fundus was inaccessible. A computed tomography performed showed a sphenoid heterogeneous expansive process with left temporo-orbital extension with locoregional invasion. The child was referred to the pediatric neurosurgery department where the total tumor extraction was performed and the analysis of the surgical specimen revealed an orbito-temporal hamartoma.
... Nevertheless, a hamartoma exhibits self-limited growth in contrast to a tumour. 5 Constant dysmorphic cell proliferation that are naive to the organ in which they first appear and that also produce the cytokines required for tissue invasion but not those required for metastasis are known as benign neoplasms. 3 Teratomas are real tumours made up of tissues from each of three germ cell layers. ...
... can develop in almost all organ systems, either randomly or in conjunction with syndromic conditions. 5 System by system hamartomas categorised according to origin into head and neck, central nervous system, cardiothoracic, GIT, GUT, musculoskeletal. 5 Based on tissue of origin head and neck hamartomas are divided into three groups: Connective tissue, epithelial and others. ...
... 5 System by system hamartomas categorised according to origin into head and neck, central nervous system, cardiothoracic, GIT, GUT, musculoskeletal. 5 Based on tissue of origin head and neck hamartomas are divided into three groups: Connective tissue, epithelial and others. There are several different types of connective tissue hamartomas, including those with vascular, lymphatic, neurologic and osseous origin. ...
Albrecht introduced the concept of hamartoma at the beginning of twentieth century to designate a tumor like or non-neoplastic malformation or inborn error of tissue development. They arise virtually in all organs. They may derive from any three germinal layer of which mesodermal derived overgrowth is most common. They are slow growing and have self-limited growth. The formation of these growth take place by abnormal mixing of tissue in course of development. Present retrospective study was conducted in pathology department over a period of 2 years from July 2020 to June 2022. Total twenty cases were included in study and it was observed that twelve cases occurred in head and neck region, one case occurred over chest, one case in gastrointestinal tract and six cases in extremities. It is important to differentiate hamartomas from related lesions like choristoma, teratoma and benign tumors to avoid aggressive treatment.
... Our observation of increased proliferation in AMBRA1-perturbed cells (AMBRA1 +/− , −/− , Q30R A/G , Q30R G/G ) confirmed the hyperproliferative potential of the AMBRA1 Q30 mutation, which could possibly be responsible for the benign self-limited growth of hamartomatous lesions in CS patients [16,17]. In addition, we observed that the monoallelic AMBRA1 +/− cells apparently showed a higher proliferation rate than the wildtype cells, which is consistent with previous reports of increased tumorigenesis in monoallelic AM-BRA1 mouse embryonic fibroblast cells [7], suggesting AMBRA1 as a haploinsufficient tumor suppressor, sensitive to the gene dosage. ...
Cowden syndrome (CS) is a rare autosomal dominant disorder associated with multiple hamartomatous and neoplastic lesions in various organs. Most CS patients have been found to have germline mutations in the PTEN tumor suppressor. In the present study, we investigated the causative gene of CS in a family of PTEN (phosphatase and tensin homolog deleted on chromosome 10) -negative CS patients. Whole exome sequencing analysis revealed AMBRA1 (Autophagy and Beclin 1 Regulator 1) as a novel candidate gene harboring two germline variants: p.Gln30Arg (Q30R) and p.Arg1195Ser (R1195S). AMBRA1 is a key regulator of the autophagy signaling network and a tumor suppressor. To functionally validate the role of AMBRA1 in the clinical manifestations of CS, we generated AMBRA1 depletion and Q30R mutation in hTERT-RPE1 (humanTelomerase Reverse Transcriptase-immortalized Retinal Pigmented Epithelial cells) using the CRISPR-Cas9 gene editing system. We observed that both AMBRA1-depleted and mutant cells showed accumulation in the S phase, leading to hyperproliferation, which is a characteristic of hamartomatous lesions. Specifically, the AMBRA1 Q30R mutation disturbed the G1/S transition of cells, leading to continuous mitotic entry of mutant cells, irrespective of the extracellular condition. From our analysis of primary ciliogenesis in these cells, we speculated that the mitotic entry of AMBRA1 Q30R mutants could be due to non-functional primary cilia that lead to impaired processing of extracellular sensory signals. Additionally, we observed a situs inversus phenotype in ambra1-depleted zebrafish, a developmental abnormality resulting from dysregulated primary ciliogenesis. Taken together, we established that the AMBRA1 Q30R mutation that we observed in CS patients might play an important role in inducing the hyperproliferative potential of cells through regulating primary ciliogenesis.
... These lesions are benign and often show a slow enlargement. 1 Head cartilaginous hamartomas have increased in frequency despite being considered rare. Indeed, lesions such as the chondromesenchymal hamartoma now figure in the World Health Organization classification of head and neck tumors along with osteochondroma, chondroma, chondroblastoma, and chondromyxoid fibroma, among other cartilaginous tumors. 2 Chondromesenchymal hamartomas are rare, benign, slow-growing, and locally destructive lesions that contain mixed mesenchymal and cartilaginous components. ...
BACKGROUND
Nasal chondromesenchymal hamartomas (NCMHs) are benign, slow-growing lesions formed by mesenchymal and cartilaginous components. They occur predominantly in male infants at the nasopharynx and orbit. Rare cases have been reported in adults. Ectopic NCMHs occurring in other head regions without the typical nasopharyngeal or orbital involvement have not been previously described.
OBSERVATIONS
The authors presented the case of a 40-year-old woman with a giant mass in the left frontoparietal region that started to enlarge progressively after the patient’s first pregnancy at the age of 21 years. The tumor caused intense headaches, nausea, vomiting, asthenia, and syncope. On admission, the neurological examination revealed no abnormalities. Brain magnetic resonance imaging showed a solid homogeneous tumor without intraaxial involvement extending inferiorly to the left zygomatic arch, with a significant mass effect on the adjacent bones but no infiltration. Remarkably, digital subtraction angiography demonstrated that the tumor received blood supply from superficial as well as intracranial branches of the left vertebral artery. After tumor resection, histopathological analysis revealed characteristics indistinguishable from an NCMH.
LESSONS
The authors described a rare NCMH of the scalp with intracranial blood supply in an adult patient. A case with similar characteristics had not been reported before.
... Hamartoma, which was first described by the german pathologist eugen Albrecht in 1904, is a malformation that results from the disorganized proliferation of at least two mature mesenchymal tissues. The name is derived from the greek word hamartia meaning faulty and is used in this instance to refer to faulty tissue development [4]. Hamartomas can be seen in many different parts of the body, but one of the most common sites is the lung. ...
Background: Wedge resection and enucleation are the most commonly preferred surgical modalities for the treatment of pulmonary hamartomas. There is a concern about the safety and efficacy of enucleation for a pulmonary hamartoma. Aim of the study: To compare wedge resection and enucleation for the surgical treatment of pulmonary hamartomas. Material and Methods: We retrospectively analyzed the data from patients who were surgically diagnosed with pulmonary hamartoma between January 2014 and December 2019. We obtained data on clinical findings, radiological features, surgical modality, postoperative complications, and follow-up results from the hospital electronic database. We compared all these features in the patients who underwent wedge resection with those who received enucleation. Results: A total of 18 patients with pulmonary hamartoma were analyzed. The mean age of the patients was 60.56 ± 9.25 years and 10 (55.6%) were male. Twelve (66.7%) patients had no respiratory symptoms. Ten (55.6%) of the patients underwent wedge resection and 8 (54.4%) patients had enucleation. There were no significant differences in age, gender, symptom distribution, prolonged air leakage, hospital stay length, intensive care unit stay length, mortality, or relapse rate between the patients with wedge resection and enucleation. Nodule size, calcification, metabolic activity, central or peripheral location, and lobar distribution were also similar. Conclusions: We observed that there were no significant differences in the postoperative complications, hospital stay length, mortality or relapse between the patients with wedge resection and enucleation. Minimal parenchymal damage and resection should be the aim of surgical interventions for benign lung diseases. Therefore, we believe that enucleation should be the first choice for the surgical treatment pulmonary hamartomas.
... A hamartoma is a non-neoplastic disorganized proliferation of cells and tissues that are usually found in the organ from which they arise [1]. Odontomas develop as a result of hamartomatous proliferation of the dental apparatus [2]. ...
Introduction
and importance: Complex odontomas are hamartomas representing a conglomeration of all dental tissues. When developed, they rarely become giant and even more rare to become giant in children. This report presented an unusual giant mandibular complex odontoma in very young patient. It also provided a literature analysis and better understanding of clinical features of such giant lesions in the mandible.
Case presentation
An 8-year-old boy presented with swelling in the right side of the mandible. After clinical and radiological exams, a provisional diagnosis of giant composite odontoma was made. This lesion led to jaw expansion, asymmetrical face, and teeth eruption alterations. Surgical excision of the lesion was performed, and histopathological examination confirmed the diagnosis. The patient's follow-up showed that normal jaw size and facial symmetry was restored with no evidence of recurrence for 3 years.
Clinical discussion
A literature review of reported mandibular large odontomas was made. All published reported cases of giant odontoma in the mandible caused bone expansion with or without pain. According to the literature, this paper described the youngest patient with giant complex odontoma in the mandible. This was also the first reported case from Syria.
Conclusion
Giant complex composite odontoma of the mandible can develop at any age causing facial asymmetry, however, with good prognosis and predictable surgical treatment.
... From a morphological point of view, PHs are benign tumors composed of variable amounts of at least two mature mesenchymal tissues (cartilage, smooth muscle tissue, adipose tissue, bone or fibromyxoid tissue), combined with entrapped benign epithelium [8]. Although they display a non-infiltrative and slow-growing feature, patients with PHs have a 6.3 times greater risk for lung cancer development compared to the general population [9]. ...
... PHs are benign tumors composed of an abnormal admixture of mature mesenchymal tissue, such as cartilage, smooth muscle, fat tissue, bone or fibromyxoid tissue, with entrapped benign epithelium [8]. The "hamartoma" term derives from "hamartia", which means "erroneous" or "faulty", in Greek [8]. ...
... PHs are benign tumors composed of an abnormal admixture of mature mesenchymal tissue, such as cartilage, smooth muscle, fat tissue, bone or fibromyxoid tissue, with entrapped benign epithelium [8]. The "hamartoma" term derives from "hamartia", which means "erroneous" or "faulty", in Greek [8]. From a historical perspective, Eugen Albrecht used, for the first time in 1904, the term "hamartoma", to characterize a local cellular and tissular proliferation, typically found in the organ of origin [10]. ...
Pulmonary hamartomas (PHs) are the most common benign lung tumors. Usually, they are asymptomatic and incidentally discovered during assessment for other diseases or during the autopsy exam. In this context, we have performed a retrospective analysis of surgical resections in a 5-year series of patients diagnosed with PHs in the Clinic of Pulmonary Diseases, Iaşi, Romania, aiming to evaluate their clinicopathological features. A total of 27 patients with PH (40.74% males and 59.26% females) were evaluated. 33.33% of patients were asymptomatic, while the others exhibited variable symptoms, such as chronic cough, dyspnea, chest pain or weight loss. In most cases, PHs presented as solitary nodules, predominantly disposed in the right upper lobe (40.74% of cases), followed by the right lower lobe (33.34%), and left lower lobe (18.51%). The microscopic examination revealed a mixture of mature mesenchymal tissue, such as hyaline cartilage, adipose tissue, fibromyxoid tissue, and smooth muscle bundles, in variable proportions, associated with clefts of entrapped benign epithelium. A dominant adipose tissue component was observed in one case. PH was associated with a history of extrapulmonary cancer diagnosis, in one patient. Although considered benign lung tumors, PHs diagnosis and therapy may be challenging. Having in mind the possibility of recurrence or their occurrence as a part of specific syndromes, PHs should be thoroughly investigated for an appropriate patients' management. Their complex significance and the correlation with other types of lesions, including malignancies, may be further studied, by more extensive studies of surgical and necroptic cases.
