Nasal Chondromesenchymal Hamartoma Research Articles

Clinical characteristics, diagnosis and treatment of nasal cartilage mesenchymal hamartoma in infants

Objective: To explore the clinical characteristics, pathological features, and diagnosis and treatment strategies of nasal chondromesenchymal hamartoma (NCMH) in infants and young children. Methods: A retrospective analysis was conducted on seven cases of NCMH infants and young children admitted to Beijing Children's Hospital, Capital Medical University from April 2015 to January 2022. The cohort included 5 males and 2 females, aged from 6 days to 2 years and 3 months. General information, clinical symptoms, imaging findings, treatment plans, postoperative complications, recurrence and follow-up time were collected, summarized and analyzed. Additionally, immunohistochemical characteristics of the lesion were examined. Results: The clinical symptoms of 7 children included nasal congestion, runny nose, open mouth breathing, snoring during sleep, difficulty feeding, and strabismus. All patients underwent electronic nasopharyngoscopy examination, with 5 cases of tumors located in the right nasal cavity and 2 cases in the left nasal cavity. No case of bilateral nasal cavity disease was found. All 7 patients underwent complete imaging examinations, with 5 patients underwent MRI and CT examinations, 1 patient underwent CT examination only, and 1 patient underwent MRI examination only. The CT results showed that all tumors were broad-based, with uneven density, multiple calcifications and bone remodeling, and some exhibited multiple cystic components. The MRI results showed that the tumor showed low signal on T1 weighted imaging and high or slightly high signal on T2 weighted imaging. All patients were diagnosed through histopathological examination and immunohistochemistry, including 7 cases of Ki-67 and SMA (+), 5 cases of S-100 and Vimentin (+), and all EMA and GFAP were negative. All patients underwent endoscopic resection surgery through the nasal approach, with 3 cases using navigation technology. Five cases of tumors were completely removed, and two cases of tumors were mostly removed. No nasal packing was performed after surgery, and no postoperative nasal, ocular, or intracranial complication occurred in all patients. Follow up assessments conducted 6 to 84 months post-surgery revealed no instances of tumor recurrence in any of the patients. Conclusions: The clinical symptoms of children with NCHM mainly depend on the size and location of the tumor. Nasal endoscopic surgery is the main treatment method. In cases where critical structures like the skull base or orbit are implicated, staged surgical interventions may be warranted. Long-term follow-up is strongly advised to monitor for any potential recurrence or complications.

Nasal Condromesenchymal Hamartoma- A Diagnostic Dilemma

Nasal chondromesenchymal hamartoma (NCH) is a very rare and benign tumor of sinonasal tract and usually presents in infants and young children with varied symptoms depending upon the site of tumor in nasal cavity or paranasal sinuses. Here we present a case of 12 years old female who presented with on and off nasal obstruction for 1 year. On the basis of clinical and radiological findings she was diagnosed as a case of ethmochoanal polyp but radiological findings also showed bony thinning because of which malignancy could not be ruled out. But surprisingly her histopathological findings were in favour of chondromesenchymal hamartoma which was confirmed by vimentin and S100 positivity.

A Korean child with DICER1 syndrome presenting with thyroid manifestations accompanied by other types of neoplasms: a case report and literature review.

We experienced a rare case of an 8-year-old girl with a diagnosis of DICER1 syndrome. The patient exhibited renal and thyroid symptoms. On family history, the patient's maternal grandmother and aunt had a diagnosis of multinodular goiter. The patient underwent whole exome sequencing (WES) to examine whether she had cancer predisposition syndrome, including DICER1 syndrome. This showed a heterozygous missense mutation, c.3506C>G (p.S1169*), in exon 21 of the DICER1 gene. Sanger sequencing was performed to confirm the DICER1 variant detected by WES and to examine whether the patient's family members had a mutation in the same DICER1 exon. Two siblings and father of the patient were negative for genetic test, but the patient's mother was positive for DICER1 pathogenic variant. At the age of 16, the patient had a polypoid mass in the right nasal cavity. On histopathology, the patient was found to have nasal chondromesenchymal hamartoma. Our case showed the longitudinal time course of DICER1 syndrome, which has not been described in the Korean literature. In conclusion, our case highlights the importance of thyroid diagnostic work-up; clinicians should consider the possibility of DICER1 syndrome in a child or an adolescent who present with thyroid diseases accompanied by common type of neoplasms.

RREB1::MRTFB fusion-positive extra-glossal mesenchymal neoplasms: A series of five cases expanding their anatomic distribution and highlighting significant morphological and phenotypic diversity.

The RREB1::MRTFB (former RREB1::MKL2) fusion characterizes ectomesenchymal chondromyxoid tumors (EMCMT) of the tongue. Only five molecularly confirmed extra-glossal EMCMT cases have been reported recently; all occurring at head and neck or mediastinal sites. We herein describe five new cases including the first two extracranial/extrathoracic cases. The tumors occurred in three male and two female patients with an age ranging from 18 to 61 years (median, 28). Three tumors were located in the head and neck (jaw, parapharyngeal space, and nasopharyngeal wall) and two in the soft tissue (inguinal and presacral). The tumor size ranged from 3.3 to 20 cm (median, 7). Treatment was surgical without adjuvant treatment in all cases. Two cases were disease-free at 5 and 17 months; other cases were lost to follow-up. Histologically, the soft tissue cases shared a predominant fibromyxoid appearance, but with variable cytoarchitectural pattern (cellular perineurioma-like whorls and storiform pattern in one case and large polygonal granular cells embedded within a chondromyxoid stroma in the other). Two tumors (inguinal and parapharyngeal) showed spindled to ovoid and round cells with a moderately to highly cellular nondescript pattern. One sinonasal tumor closely mimicked nasal chondromesenchymal hamartoma (NCMH). Mitotic activity was low (0-5 mitoses/10hpfs). Immunohistochemical findings were heterogeneous with variable expression of S100 (2/5), EMA (2/3), CD34 (1/4), desmin (1/4), and GFAP (1/3). Targeted RNA sequencing revealed the same RREB1::MRTFB fusion in all cases, with exon 8 of RREB1 being fused to exon 11 of MRTFB. This study expands the topographic spectrum of RREB1::MRTFB fusion-positive mesenchymal neoplasms, highlighting a significant morphological and phenotypic diversity. Overall, RREB1::MRTFB-rearranged neoplasms seem to fall into two subcategories: tumors with lobulated, chondroid, or myxochondroid epithelioid morphology (Cases 2 and 3) and those with more undifferentiated hypercellular spindle cell phenotype (Cases 1, 4, and 5). Involvement of extracranial/extrathoracic sites and the NCMH-like pattern are novel. The biology of these likely indolent or benign tumors remains to be verified in the future.

Nasal Chondromesenchymal Hamartoma: An Adult Case Report

Background: Nasal chondromesenchymal hamartoma (NCMH) is a rare benign tumor almost always found in children. NCMH was first described by McDermott in 1998. To the best our knowledge, about 50 NCMH cases have been reported worldwide with very few adult cases and no long-term follow-ups. Case Presentation: Here, we report a 43-year-old woman who referred to the Otolaryngology Clinic of Payambar Azam Hospital, Bandar Abbas, Iran, in 2008, with a one-year history of progressive left-sided nasal obstruction that had not relieved with topical nasal decongestants and steroid sprays. A unilateral left-sided nasal soft-tissue mass was found upon examination. Histological and immunohistochemical analyses were consistent with NCMH. Trans-nasal endoscopic excision showed good results and no sign of recurrence has been observed after 12 years of regular follow-up. Conclusion: Awareness of imaging and immunohistochemical characteristics of NCMH combined with the probability of presentation in the adult population are necessary for correct diagnosis and adequate therapy.

Nasal chondromesenchymal hamartoma: an update.

Nasal chondromesenchymal hamartoma is a rare pathology that can present with a myriad of symptoms to ENT, maxillofacial and ophthalmology departments. This study reviewed the literature on nasal chondromesenchymal hamartoma as well as adding three new cases to the reported literature. This study was an up-to-date review of the world literature with the addition of three new cases to provide the most comprehensive review to date. A total of 56 patients with nasal chondromesenchymal hamartoma were identified, ranging from children to adults. Nasal symptoms and ocular symptoms were most common, and surgical resection was the most frequent treatment modality. This study advocates for increased awareness of the condition associations for nasal chondromesenchymal hamartoma, multi-specialty treatment and the role for the ENT surgeon in treatment of the condition.

DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case

DICER1, a member of the ribonuclease III family, is involved in the biogenesis of microRNAs and, hence, it influences gene expression regulation. DICER1 germline (associated with the inherited DICER1 syndrome) or somatic mutations have been linked to tumorigenesis in histogenetically diverse benign and malignant neoplasms in different organs including pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, nasal chondromesenchymal hamartoma, poorly differentiated thyroid carcinoma, thyroblastoma, intracranial sarcoma and gonadal Sertoli-Leydig cell tumors in addition to others. Moreover, rare botryoid (giant) fibroepithelial polyps may harbor this mutation. Herein, we describe the first reported case of a DICER1-mutated botryoid fibroepithelial polyp occurring within the parotid duct of a 65-year-old female who has no other features or family history of the DICER1 syndrome. Based on its distinctive morphology, we tested this lesion specifically for DICER1 mutations and confirmed the presence of a pathogenic DICER1 variant with a low allele frequency, consistent with a somatic mutation.

The first case of nasal chondromesenchymal hamartoma in an octogenarian: description and literature review

Nasal Chondromesenchymal Hamartoma (NCMH) is a rare tumour of the sinonasal tract with a benign clinical behaviour. Locally destructive symptoms may occur. Due to the extreme rarity of this entity, only a few case reports are present in literature and most of them describe paediatric patients, usually under 12 years. Occasionally it may occur in adults. Symptoms are usually due to nasal localization, as nasal obstruction or mass effect or local compression caused by the lesion itself, as visual disturbances or facial pain. Cases described in the adult population are exceedingly rare. We describe the eldest case reported in literature of NCHM with peculiar features: geriatric patient, septal localization and asymptomatic clinic despite its voluminous size. The treatment of choice should be radical surgical resection however the best management strategy should be defined after multidisciplinary assessment of frailty in elderly patients.

Review of Pediatric Head and Neck Neoplasms that Raise the Possibility of a Cancer Predisposition Syndrome.

Cancer predisposition syndromes (CPS) are generally heritable conditions that predispose individuals to develop cancer at a higher rate and younger age than their representative general population. They are a significant cause of cancer related morbidity and mortality in the pediatric population. Therefore, recognition of lesions that may be associated with a CPS and alerting the clinicians to its implications is a crucial task for a diagnostic pathologist. In this review we discuss benign pediatric head and neck lesions associated with CPS namely: odontogenic keratocyst, juvenile nasopharyngeal angiofibroma, ossifying fibroma of the jaw, paraganglioma, plexiform neurofibroma, plexiform schwannoma, mucosal neuroma, and nevus sebaceous syndrome; along with malignant tumors such as squamous cell carcinoma. Several head and neck melanocytic, endocrine, and central nervous system tumors can also be associated with CPS; they are beyond the scope of this article. Nasal chondromesenchymal hamartoma is discussed elsewhere in this issue.

THE “-OMAS” and “-OPIAS”: Targeted and Philosophical Considerations Regarding Hamartomas, Choristomas, Teratomas, Ectopias, and Heterotopias in Pediatric Otorhinolaryngologic Pathology

The spectrum of "developmental" lesions that occur in the head and neck predominantly congenital in origin and arising at birth and/or discovered in childhood is broad and fascinating. These have been grouped into categories such as "ectopias", "heterotopias", "hamartomas", and "choristomas". On a philosophical and consequently systematic level, these lesions, mostly benign tumors seem to lack a true understanding of the pathogenetic foundation on which to base a more unified taxonomic designation. In this review, we will consider some of these select tumors as they represent syndromic associations (nasal chondromesenchymal hamartoma and DICER1 syndrome), the lingual choristoma from the perspective of its nomenclature and classification, lesions with ectopic meningothelial elements, and teratomas and the enigmatic "hairy polyp" in reference to a broader discussion of pathogenesis and pluripotent cells in the head and neck. A consistent thread will be how these lesions are designated with some final thoughts on future directions regarding the investigation of their pathogenesis and taxonomic nomenclature.

Nasal overshoot: Probably a new entity

Background: Congenital masses of the nasal tip are extremely rare. Differential diagnoses include nasal-tip teratoma, nasal chondromesenchymal hamartoma (NCMH), and heterotopic nasal glioma. Herein, the case of a newborn is reported that does not match with any of these differential diagnoses. Case presentation: A newborn male presented with a congenital pedunculated mass arising from the nasal columella. The mass was symmetrically bilobed which is very unusual for any hamartomatous or neoplastic lesions. Histologically, it was composed of cartilage and ciliated epithelium. Conclusion: Based on the uniqueness of the case it is hypothesized that the lesion could be an embryological error of frontonasal process overshoot defying, hitherto unknown, controlling mechanism. More research is needed to know how the morphometric proportion of the human body is determined by Nature.

Nasal Chondromesenchymal Hamartoma: A Rare Benign Lesion in Adult Female.

Nasal chondromesenchymal hamartoma (NCMH) is a rare benign lesion of the sinonasal tract in children and adolescent with orbital involvement. NCMH is histologically composed of nodules of cartilage with cellular density variation and maturation of the chondrocytes, a myxoid to spindle cell stroma, focal osteoclast-like giant cells in the stroma, and erythrocyte-filled spaces. This lesion may present with a destructive pattern on imaging, highly suggestive of malignancy. Total endoscopic resection is the choice of treatment nowadays, however incomplete excision could result in tumor recurrence but rare.

Non-resolving acute sinusitis due to nasal hamartoma: a case report

The paranasal sinuses are closely related to vital structures, and therefore, rhinosinusitis may lead to various dangerous complications. Nasal chondromesenchymal hamartoma is a rare benign lesion of the sinonasal tract in children and adolescents. We report the case of a 15-year-old patient with antibiotic-refractory acute sinusitis in whom a nasal tumor was identified and histopathologically diagnosed as a hamartoma. Therefore, the tumor was removed surgically to alleviate the patient’s symptoms. This case highlights the necessity of investigating the underlying cause if conventional treatment fails to resolve a mild disease like acute sinusitis. To the best of our knowledge, this is the first reported case of a chondro-osseous respiratory epithelial adenomatoid hamartoma presenting with acute sinusitis.

Nasal chondromesenchymal hamartomas in a cohort with pathogenic germline variation in DICER1.

Nasal chondromesenchymal hamartomas are benign, rare nasal tumors associated with DICER1 pathogenic germline variation. They can be locally destructive and recurrent if not completely resected. In this single-center, case-control study, otorhinolaryngology evaluations and review of systems questionnaires of DICER1-carriers and controls enrolled in the DICER1 Natural History Study at the National Cancer Institute were collected. Review of these medical records were analyzed to determine if DICER1-carriers experienced different sinonasal clinical manifestations compared to controls. Additionally, the number of diagnoses of nasal chondromesenchymal hamartoma cases in the NCI DICER1 study was compared against the total person years of observation of DICER1-carriers in the study to determine the total number of cases per person-years of observation. Lastly, both the NCI DICER1 study and the International Pleuropulmonary Blastoma/DICER1 Registry were queried for unpublished cases of nasal chondromesenchymal hamartomas. There were no clinical differences in sinonasal symptomatology between DICER1-carriers and control patients seen in the ENT clinic. We observed of two cases of nasal chondromesenchymal hamartoma in a total of 555 person-years of monitoring DICER1-carriers. We include six unpublished nasal chondromesenchymal hamartoma cases. When combined with a comprehensive literature review, 38% of nasal chondromesenchymal hamartoma cases had at least one additional DICER1-associated tumor and 24% of the NCMH were found in the ethmoid sinus, the most commonly involved paranasal sinus. We quantify the risk of developing nasal chondromesenchymal hamartomas in our cohort of 236 DICER1-carriers, report six unpublished cases, and provide an updated review of the literature.

Three Cases of Nasal Chondromesenchymal Hamartoma Occurred in Sinonasal Tract

Three Cases of Nasal Chondromesenchymal Hamartoma Occurred in Sinonasal Tract

Imaging of DICER1 syndrome.

DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been increasingly recognized in the last 10 years. Diseases in the syndrome result from mutations in both copies of the gene DICER1, a highly conserved gene that is critically implicated in micro-ribonucleic acid (miRNA) biogenesis and hence modulation of messenger RNAs. In general, susceptible individuals carry an inherited germline mutation that disables one copy of DICER1; within tumors, a very characteristic second mutation alters function of the other gene copy. About 20 hamartomatous, hyperplastic or neoplastic conditions comprise DICER1 syndrome. Most are not life-threatening, but some are aggressive malignancies. There are many unaffected carriers because penetrance is generally low; however, clinically occult thyroid nodules and lung cysts are frequent. Rare diseases of early childhood were the first recognized conditions in DICER1 syndrome, while other conditions affect adolescents and adults. The hallmarks of DICER1 syndrome are certain rare tumors including pleuropulmonary blastoma; cystic nephroma; ovarian Sertoli-Leydig cell tumor; sarcomas of the cervix, kidneys and cerebrum; pituitary blastoma; ciliary body medulloepithelioma; and nasal chondromesenchymal hamartoma. Radiologists are often the first practitioners to observe these diverse manifestations and play a primary role in recognizing DICER1 syndrome.

An update on the central nervous system manifestations of DICER1 syndrome.

DICER1 syndrome is a rare tumor predisposition syndrome with manifestations that predominantly affect children and young adults. The syndrome is typically caused by heterozygous germline loss-of-function DICER1 alterations accompanied on the other allele by somatic missense mutations occurring at one of a few mutation hotspots within the sequence encoding the RNase IIIbdomain. DICER1 encodes a member of the microRNA biogenesis machinery. The syndrome spectrum is highly pleiotropic and features a unique constellation of benign and malignant neoplastic and dysplastic lesions. Pleuropulmonary blastoma (PPB), the most common primary lung cancer in children, is the hallmark tumor of the syndrome. Other manifestations include ovarian Sertoli-Leydig cell tumor, cystic nephroma arising in childhood, multinodular goiter, thyroid carcinoma, anaplastic sarcoma of the kidney, embryonal rhabdomyosarcoma, and nasal chondromesenchymal hamartoma, in addition to other rare entities. Several central nervous system (CNS) manifestations have also been defined, including metastases of PPB to the cerebrum, pituitary blastoma, pineoblastoma, ciliary body medulloepithelioma, and most recentlyprimary DICER1-associated CNS sarcomas and ETMR-like infantile cerebellar embryonal tumor. Macrocephaly is a recently reported non-neoplastic, haploinsufficient phenotype. In this manuscript, we review the CNS manifestations of DICER1 syndrome.

DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies.

Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma, and brain tumors including pineoblastoma and pituitary blastoma. In May 2016, the International PPB Registry convened the inaugural International DICER1 Symposium to develop consensus testing and surveillance and treatment recommendations. Attendees from North America, Europe, and Russia provided expert representation from the disciplines of pediatric oncology, endocrinology, genetics, genetic counseling, radiology, pediatric surgery, pathology, and clinical research. Recommendations are provided for genetic testing; prenatal management; and surveillance for DICER1-associated pulmonary, renal, gynecologic, thyroid, ophthalmologic, otolaryngologic, and central nervous system tumors and gastrointestinal polyps. Risk for most DICER1-associated neoplasms is highest in early childhood and decreases in adulthood. Individual and caregiver education and judicious imaging-based surveillance are the primary recommended approaches. These testing and surveillance recommendations reflect a consensus of expert opinion and current literature. As DICER1 research expands, guidelines for screening and treatment will continue to be updated. Clin Cancer Res; 24(10); 2251-61. ©2018 AACR.

A Case of Nasal Chondromesenchymal Hamartoma Misunderstood as a Sphenochoanal Polyp in an Adult

A Case of Nasal Chondromesenchymal Hamartoma Misunderstood as a Sphenochoanal Polyp in an Adult

Endoscopic endonasal excision of nasal chondromesenchymal hamartoma with intracranial extension

IntroductionNasal chondromesenchymal hamartoma (NCMH) is an extremely rare benign hamartoma of the sinonasal tract, predominantly involving infants and young children. MethodsWe report the case of a 3-year-old boy of NCMH with extension to anterior skull base. ResultsThe tumor was completely resected piece by piece via an endonasal endoscopic approach. There is no recurrence 3 years after operation. ConclusionsWe reported the case of NCMH extending to skull base was successfully resected by endonasal endoscopic approach.