A rectal polyp is found during a routine colonoscopy of a 34-year-old male. He has no known significant family history of inherited disorder. Endoscopic findings reveal a 5-mm JNET 2A polyp in the rectum which is removed via forceps polypectomy. The microscopic examination shows a polypoid colonic mucosa with fairly circumscribed proliferation of low-grade spindle cells in the lamina propria, separating the crypts. The individual spindle cells are uniform in size with abundant eosinophilic cytoplasm. No mitotic figures, nuclear atypia, pleomorphism and necrosis are noted. Likewise, the crypts do not exhibit serrated architecture.

OBJECTIVE: To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS). METHODS: DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members. RESULTS: Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant. CONCLUSION The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.
Humans ; Child ; Pallister-Hall Syndrome/genetics* ; Kruppel-Like Transcription Factors/genetics* ; Zinc Finger Protein Gli3/genetics* ; Polydactyly/genetics* ; Hamartoma/pathology* ; Nerve Tissue Proteins/genetics*

〓 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*

Objective:To investigate the clinical manifestations and treatment of laryngopharynx hamartoma in children. Methods:The clinical data of a child with piriform sinus hamartoma treated in our hospital were analyzed retrospectively. The age, gender, clinical manifestations, auxiliary examination, location of the tumor and surgical methods were analyzed. Results:The patient had a good prognosis after surgery, and no tumor recurrence was found after 1 year of follow-up. Conclusion:Laryngopharynx hamartoma is rare in children. It should be considered in children with laryngeal dysfunction and upper airway obstruction. Complete resection of the tumor is the key to postoperative recurrence.
Child ; Humans ; Hamartoma/surgery* ; Larynx/pathology* ; Neoplasm Recurrence, Local/pathology* ; Pyriform Sinus/pathology* ; Retrospective Studies ; Male ; Female

Laryngeal hamartoma is a benign proliferative tumor-like lesion that occurs in the larynx. A case of supraglotic laryngeal hamartoma admitted by our department and 12 cases of laryngeal hamartoma reported in literature were retrospectively analyzed, the pathogenesis, clinicalmanifestation, diagnosis, treatment and prognosis of laryngeal hamartoma was explored, aiming to improve the understanding and diagnosis and treatment.of this disease.
Humans ; Child ; Retrospective Studies ; Larynx/pathology* ; Laryngoscopy ; Prognosis ; Hamartoma ; Laryngeal Neoplasms/surgery*

Hamartoma/pathology* ; Humans ; Intestinal Mucosa/pathology* ; Schwann Cells/pathology*

Humans ; Colon, Sigmoid ; Hamartoma/surgery* ; Schwann Cells ; Mucous Membrane

The diagnosis of cystic liver disease has made great progress with the advent of enhanced imaging techniques. At the same time, its management has gradually improved over the past few decades, providing the basis for the development of appropriate diagnostic and treatment guidelines. To this end, the European Association for the Study of the Liver has developed clinical guidelines for the diagnosis and treatment of non-infectious cystic liver disease. This guideline put forward recommendations based on an in-depth review of the relevant literature for addressing clinical issues, including the diagnosis and treament of hepatic cysts, hepatic mucocystic tumors, biliary hamartomas, polycystic liver disease, Caroli disease or Caroli syndrome, biliary hamartomas, and peribiliary cyst.
Humans ; Liver Diseases/pathology* ; Cysts/pathology* ; Caroli Disease/diagnosis* ; Liver Neoplasms/therapy* ; Hamartoma

Nevus-like basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the occurrence of multiple maxillofacial keratocysts, basal cell carcinoma, child medulloblastoma, and various skeletal and soft tissue dysplasia. In 2020, a patient with NBCCS dominated by facial basal cell carcinoma was admitted to Xiangya Hospital of Central South University. The patient was an elderly woman. Ten years ago, the systemic mass appeared, especially on the face, but it was not treated. Later, these masses gradually increased in volume and number, and showed invasive properties. The nasal mass was broken and suppurated, seriously affecting the patient's life quality. The patient came to the hospital to improve the symptoms. Staphylococcus aureus and Providencia rettgeri were cultured in the patient's nasal secretions. Nasal sinus enhanced MRI showed that the subcutaneous soft tissue of the right cheek and the anterolateral mucosa of the left nasal cavity were invaded, indicating multiple malignant skin lesions. After admission, local anesthesia was performed and some masses were removed. Pathological examination of the mass showed basal cell carcinoma. After general anesthesia, multiple masses were resected. The postoperative pathological examination showed that multiple basal cell carcinoma invaded the deep dermis near subcutaneous fat layer. Combined with the results of clinical and immunohistochemical examination, the patient was diagnosed as NBCCS. There were no clear tumor thrombus in the vessel and no nerve invasion. No recurrence or new tumor was found after 1 year follow-up. The incidence rate of NBCCS is low and clinical symptoms are different. The patient's life quality is poor and the patient needs long-term individualized treatment.
Aged ; Basal Cell Nevus Syndrome/surgery* ; Carcinoma, Basal Cell/surgery* ; Child ; Female ; Hamartoma Syndrome, Multiple ; Humans ; Magnetic Resonance Imaging

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