〓 Objectives: To analyze the pathological and clinical features of nasal respiratory epithelial adenomatoid hamartoma（REAH）, and summarize the diagnostic points, to improve the experience of diagnosis and treatment. Methods:The clinical data of 16 patients with REAH were analyzed retrospectively. The clinical manifestations, pathological features, imaging features, surgical treatment and prognosis were summarized. Results:16 cases of REAH were studied, 10 cases（62.50%） were associated with sinusitis, 1 case（6.25%） was associated with inverted papilloma, 1 case（6.25%） was associated with hemangioma. 5 cases（31.25%） had a history of nasal sinus surgery, including 1 case with 3 times of nasal sinus surgery, 1 case with 2 times of nasal sinus surgery, 3 cases with 1 time of nasal sinus surgery; 10 cases（62.50%） occurred in the bilateral olfactory cleft, 2 cases（12.50%） in the unilateral olfactory cleft, 3 cases（18.75%） in the unilateral middle turbinate, 1 case（6.25%） in the nasopharynx. All 16 patients were pathologically diagnosed as REAH. In the patients with lesions located in bilateral olfactory fissures, symmetrical widening of olfactory fissures and lateral displacement of middle turbinate were observed on preoperative sinus CT. The average width of bilateral olfactory fissures was （9.9±2.70） mm. The ratio of wide to narrow olfactory cleft was 1.21 ± 0.19. There was no significant difference in Lund-Mackay score between the two sides（P>0.05）. All patients underwent surgery under general anesthesia and nasal endoscopy. The follow-up period ranged from 1 to 66 months, and no recurrence occurred. Conclusion:Preoperative diagnosis of REAH is facilitated by the combination of clinical manifestations and endoscopic and imaging features. Endoscopic complete resection can achieve a good therapeutic effect.
Humans ; Nasal Polyps/complications* ; Retrospective Studies ; Paranasal Sinuses/pathology* ; Adenoma ; Endoscopy/methods* ; Hamartoma/surgery*

The clinical data for a patient with primary lung adenocarcinoma complicated with pulmonary hamartoma, who admitted to Zunyi Medical University Hospital in September 2020, was retrospectively analyzed. The 62-years-old male visited outpatient service because of dysphagia in March 2015, and the pulmonary nodules were found. In September 2020, the computed tomography indicated the enlarged nodule in the lower lobe of left lung with lobulation, and there was ground glass nodule in the upper lobe of left lung. After thoracoscopic wedge surgery, the primary pulmonary adenocarcinoma in the upper lobe of left lung and pulmonary hamartoma in the lower lobe of left lung were confirmed by pathology. Whole exon sequencing revealed that kinesin family member 20B (KIF20B) gene was not expressed in lung adenocarcinoma, but was expressed in pulmonary hamartoma. The clinical manifestations of lung adenocarcinoma complicated with pulmonary hamartoma was not typical, which could locate in the same side and different sides of the lung. The imaging manifestations of the 2 kinds of tumors were diverse and can not be completely distinguished. The pathological examination after surgery is the gold standard, and the possibility of malignant transformation of pulmonary hamartoma should be warned.
Adenocarcinoma of Lung/complications* ; Hamartoma/surgery* ; Humans ; Kinesins ; Lung/pathology* ; Lung Neoplasms/surgery* ; Male ; Middle Aged ; Retrospective Studies

Adult ; Facial Neoplasms ; diagnosis ; etiology ; pathology ; Fibroma ; diagnosis ; etiology ; pathology ; Forehead ; Hamartoma Syndrome, Multiple ; complications ; diagnosis ; pathology ; Humans ; Male ; Mouth Neoplasms ; diagnosis ; etiology ; Papilloma ; diagnosis ; etiology ; Skin Neoplasms ; diagnosis ; etiology ; pathology

No abstract available.
Adult ; Biopsy ; *Brunner Glands/pathology/surgery ; Duodenal Diseases/*complications/diagnosis/surgery ; Duodenal Obstruction/diagnosis/*etiology/surgery ; Duodenoscopy ; Gastric Outlet Obstruction/diagnosis/*etiology/surgery ; Hamartoma/*complications/diagnosis/surgery ; Humans ; Male ; Tomography, X-Ray Computed ; Treatment Outcome

A 5-year-old girl was diagnosed with neurofibromatosis type 2 (NF-2) due to multiple neurofibromas, cafe-au-lait spots, and schwannomas of the brain. During ophthalmologic evaluation, a posterior subcapsular cataract and a gray-green colored subretinal lesion were found in right eye. Fluorescein angiography (FA) revealed a combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). At age 9, she underwent cataract surgery. At this time FA and spectral-domain optical coherence tomography (SD-OCT) were taken. The SD-OCT showed an elevated hyperreflective mass in the retina with prominent attenuation of the inner and outer retina, but minimal attenuation in the photoreceptor layers. The underlying retina appeared to be disorganized and thick (791 microm). This is the first case report of SD-OCT imaging of a CHRRPE associated with NF-2 in a pediatric patient. By using SD-OCT in this patient, we could obtain detailed tumor characteristics, and SD-OCT may be helpful in the diagnosis and management of CHRRPE.
Child, Preschool ; Diagnosis, Differential ; Female ; Hamartoma/complications/*diagnosis ; Humans ; Neurofibromatosis 2/*complications/diagnosis ; Retinal Diseases/complications/*diagnosis ; Retinal Pigment Epithelium/*pathology ; Tomography, Optical Coherence/*methods ; Visual Acuity

BACKGROUND: Fibrous hamartoma is the key pathology of congenital pseudarthrosis of the tibia (CPT), which was shown to have low osteogenicity and high osteoclastogenicity. This study further investigated the mechanism of impaired osteoblastic differentiation of fibrous hamartoma cells. METHODS: Fibroblast-like cells were obtained from enzymatically dissociated fibrous hamartomas of 11 patients with CPT associated with neurofibromatosis type I (NF1). Periosteal cells were also obtained from the distal tibial periosteum of 3 patients without CPT or NF1 as control. The mRNA levels of Wnt ligands and their canonical receptors, such as Lrp5 and beta-catenin, were assayed using reverse transcriptase PCR (RT-PCR). Changes in mRNA expression of osteoblast marker genes by rhBMP2 treatment were assayed using quantitative real time RT-PCR. Changes in mRNA expression of transcription factors specifically involved in osteoblastic differentiation by rhBMP2 treatment was also assayed using quantitative real-time RT-PCR. RESULTS: Wnt1 and Wnt3a mRNA expression was lower in fibrous hamartoma than in tibial periosteal cells, but their canonical receptors did not show significant difference. Response of osteoblastic marker gene expression to rhBMP2 treatment showed patient-to-patient variability. Col1a1 mRNA expression was up-regulated in most fibrous hamartoma tissues, osteocalcin was up-regulated in a small number of patients, and ALP expression was down-regulated in most fibrous hamartoma tissues. Changes in mRNA expression of the transcription factors in response to rhBMP2 also showed factor-to-factor and patient-to-patient variability. Dlx5 was consistently up-regulated by rhBMP2 treatment in all fibrous hamartoma tissues tested. Msx2 expression was down-regulated by rhBMP2 in most cases but by lesser extent than control tissue. Runx2 expression was up-regulated in 8 out of 18 fibrous hamartoma tissues tested. Osterix expression was up-regulated in 2 and down-regulated in 3 fibrous hamartoma tissues. CONCLUSIONS: Congenital pseudarthrosis of the tibia appears to be caused by fibrous hamartoma originating from aberrant growth of Nf1 haploinsufficient periosteal cells, which failed in terminal osteoblastic differentiation and arrested at a certain stage of this process. This pathomechanism of CPT should be targeted in the development of novel therapeutic biologic intervention.
Adolescent ; *Cell Differentiation ; Cells, Cultured ; Child ; Child, Preschool ; Female ; Hamartoma/complications/*pathology ; Humans ; Infant ; Low Density Lipoprotein Receptor-Related Protein-5/metabolism ; Male ; Neurofibromatosis 1/complications/*pathology ; Osteoblasts/*pathology ; Periosteum/pathology ; Pseudarthrosis/complications/*congenital/pathology/physiopathology ; Receptors, Wnt/metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Tibia/*pathology ; Transcription Factors/metabolism ; Wnt1 Protein/metabolism ; Wnt3A Protein/metabolism ; beta Catenin/metabolism

No abstract available.
Aged ; Bile Duct Neoplasms/etiology/*pathology ; Bile Ducts, Intrahepatic ; Cholangiocarcinoma/etiology/*pathology ; Hamartoma/complications/pathology ; Humans ; Immunohistochemistry ; Liver/pathology/surgery ; Male ; Tomography, X-Ray Computed

Lhermitte-Duclos disease (LDD; dysplastic cerebellar gangliocytoma) is a rare hamartomatous lesion of the cerebellar cortex and this was first described in 1920. LDD is considered to be part of the autosomal-dominant phacomatosis and cancer syndrome Cowden disease (CS). We examined the brain of a 46-year-old man, who displayed the manifestations of CS, with 7 Tesla (T) and 1.5T MRI and 1.5T MR spectroscopy (1H-MRS). We discuss the possible benefits of employing ultrahigh-field MRI for making the diagnosis of this rare lesion.
Cerebellar Cortex/pathology ; Cerebellar Neoplasms/complications/*pathology ; Diagnosis, Differential ; Gait Ataxia/etiology ; Hamartoma Syndrome, Multiple/complications/*pathology ; Humans ; Image Processing, Computer-Assisted/methods ; Magnetic Resonance Imaging/*methods ; Magnetic Resonance Spectroscopy/methods ; Magnetics ; Male ; Middle Aged ; Vertigo/etiology

OBJECTIVETo study clinical and imaging features of hypothalamic hamartoma in children.

METHODSImaging findings and clinical manifestations of 38 children with hypothalamic hamartomas were retrospectively reviewed. The patients included 25 boys and 13 girls, ranging in age of onset from 1 month to 15 years. All the 38 patients were examined with pre-contrast and post-contrast T1 weighted MR imaging and with non-contrast T2 weighted MR imaging. Meanwhile, 10 patients received CT scan. Hypothalamic hamartomas were confimed by pathologic examinations in the 38 patients.

RESULTSGelastic epilepsy, precocious puberty, other types of epilepsy and disturbance of intelligence were main manifestations in the 38 patients. Gelastic epilepsy was found as an initial clinical symptom in 17 cases, precocious puberty in 13 cases and other types of epilepsy in 8 cases. All masses were located in the suprasellar and interpeduncular cistern. They showed iso-density on CT scan, and homogeneous signal iso-intense to gray matter on T1 and T2 weighted MR images. With contrast MR images, there was no enhancement in the mass. The size or pedunculation of the mass was not correlated with clinical features.

CONCLUSIONSHypothalamic hamartoma may be characterized by precocious puberty and/or gelastic epilepsy and specific imaging findings mentioned above.

Adolescent ; Adult ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Hamartoma ; complications ; diagnosis ; pathology ; Humans ; Hypothalamic Neoplasms ; complications ; diagnosis ; pathology ; Infant ; Magnetic Resonance Imaging ; Male ; Tomography, X-Ray Computed

OBJECTIVETo study the clinicopathologic features of brain tumors occurring in patients with medically intractable epilepsy.

METHODSThe clinical, radiologic and pathologic features of brain tumors occurring in 35 patients with intractable epilepsy encountered during the period from January, 2005 to April, 2008 in Xuanwu Hospital were retrospectively reviewed.

RESULTSThe mean age of seizure onset and duration of disease were 14.3-year-old and 8.6 years, respectively. Abnormal signals were observed in 94.3% of cases (33/35) by magnetic resonance imaging. The histologic types of brain tumors included ganglioglioma (13/35, WHO grade I and 6/35, WHO grade II), dysembryoplastic neuroepithelial tumor (3/35, WHO grade I), pleomorphic xanthoastrocytoma (3/35, WHO grade II), diffuse astrocytoma (1/35, WHO grade II), oligoastrocytoma (1/35, WHO grade II), angiocentric glioma (1/35, WHO grade I) and meningioangiomatosis (1/35). The 6 remaining cases showed features seen in between glioneuronal hamartoma and mixed neuronal-glial tumor. Most of these tumors were located in the temporal lobe (27/35) and associated with focal cortical dysplasia. Immunohistochemical study showed a remarkable expression of CD34 in gangliogliomas.

CONCLUSIONSBrain tumors in patients with medically intractable epilepsy are almost always benign and located in the temporal lobe. Most of them represent mixed neuronal-glial tumors and some show transitional features in-between glioneuronal hamartoma and mixed neuronal-glial neoplasm. The similar morphologic pattern and biological behavior of glioneuronal hamartoma and mixed neuronal-glial tumor may suggest a common pathogenetic mechanism.

Adolescent ; Adult ; Antigens, CD34 ; metabolism ; Astrocytoma ; complications ; metabolism ; pathology ; Brain Diseases ; complications ; metabolism ; pathology ; Brain Neoplasms ; complications ; metabolism ; pathology ; Child ; Child, Preschool ; Epilepsy ; etiology ; metabolism ; Female ; Ganglioglioma ; complications ; metabolism ; pathology ; Glioma ; complications ; metabolism ; pathology ; Hamartoma ; complications ; metabolism ; pathology ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Oligodendroglioma ; complications ; metabolism ; pathology ; Retrospective Studies ; Temporal Lobe ; pathology ; Young Adult