Merkel cell carcinoma (MCC) is a rare and highly aggressive neuroectodermal carcinoma arising from mechanoreceptor Merkel cells. Multiple MCCs are even rarer. We report a case of two independent MCCs simultaneously present in the cheek of a patient, which were effectively and esthetically treated using a cheek flap. Punch biopsy performed in a 60-year-old woman admitted with a chief complaint of two skin-colored hard nodules in her left cheek, accompanied by an itching sensation, was suggestive of MCC. Accordingly, we performed sentinel lymph node biopsy through the modified Blair incision under general anesthesia, in cooperation with the head and neck surgery department. The defect was covered with a cheek flap by slightly extending the existing incision following wide excision with a safety margin of 1 cm. This paper is significant in that it introduces an effective reconstruction technique that maintains function using a cheek flap for the management of this rare case. In addition, this paper is the first to classify multiple MCCs according to the time of onset. We believe that this paper presents an effective alternative reconstruction technique with sentinel node biopsy through the modified Blair incision.
Anesthesia, General ; Biopsy ; Carcinoma, Merkel Cell ; Cheek ; Female ; Head ; Humans ; Mechanoreceptors ; Merkel Cells ; Middle Aged ; Neck ; Neural Plate ; Pruritus ; Sensation ; Sentinel Lymph Node Biopsy ; Surgical Flaps

Malignant gastrointestinal neuroectodermal tumor (GNET) is a very rare disease entity, especially in the esophagus. The diagnosis of GNET is based on histologic, immunohistochemical, and genetic findings. The choice of treatment is complete resection, and further treatment options can be considered. Herein, we describe a case of successful surgical treatment of a 23-year-old man with recurrent malignant esophageal GNET.
Diagnosis ; Esophagus ; Humans ; Neural Plate* ; Neuroectodermal Tumors* ; Rare Diseases ; Young Adult

BACKGROUND: Immature teratoma (IT) is a tumor containing immature neuroectodermal tissue, primarily in the form of neuroepithelial tubules. However, the diagnosis of tumors containing only cellular neuroglial tissue (CNT) without distinct neuroepithelial tubules is often difficult, since the histological characteristics of immature neuroectodermal tissues remain unclear. Here, we examined the significance of CNT and tried to define immature neuroectodermal tissues by comparing the histological features of neuroglial tissues between mature teratoma (MT) and IT. METHODS: The histological features of neuroglial tissue, including the cellularity, border between the neuroglial and adjacent tissues, cellular composition, mitotic index, Ki-67 proliferation rate, presence or absence of tissue necrosis, vascularity, and endothelial hyperplasia, were compared between 91 MT and 35 IT cases. RESULTS: CNTs with a cellularity grade of ≥ 2 were observed in 96% of IT cases and 4% of MT cases (p < .001); however, CNT with a cellularity grade of 3 in MT cases was confined to the histologically distinct granular layer of mature cerebellar tissue. Moreover, CNT in IT exhibited significantly higher rates of Ki-67 proliferation, mitoses, and necrosis than those in MT (p < .001). Furthermore, an infiltrative border of neuroglial tissue and glomeruloid endothelial hyperplasia were significantly more frequent in IT cases than in MT cases (p < .001). CONCLUSIONS: Our results suggest that if CNT with a cellularity grade of ≥ 2 is not a component of cerebellar tissue, such cases should be diagnosed as IT containing immature neuroectodermal tissue, particularly if they exhibit an infiltrative border, mitoses, necrosis, and increased Ki-67 proliferation.
Diagnosis ; Female ; Hyperplasia ; Mitosis ; Mitotic Index ; Necrosis ; Neural Plate ; Neuroglia ; Ovary ; Teratoma*

Ewing sarcoma/primitive neuroectodermal tumors (ES/PNET) are a group of malignant tumors with varying degrees of neuroectodermal differentiation. Although it may develop in any organs, ES/PNET originating from small intestine is exceedingly rare. We experienced a 9-year-old girl presenting with abdominal pain, melena, and iron deficiency anemia. Imaging work-up showed multiple masses in the small bowel and omentum with disseminated peritoneal seeding nodules, indicating lymphoma as the most likely diagnosis. Pathological reports from explorative diagnostic laparoscopic biopsy showed tumors comprising small round cells with CD99 expression and EWS-FLI1 translocation leading to the diagnosis of ES/PNET. Tumor burden decreased gradually during five consecutive cycles of systemic chemotherapy. The patient received segmental resection of jejunum, followed by adjuvant chemotherapy. This is the first pediatric case of ES/PNET found in small intestine in Korea.
Abdominal Pain ; Anemia, Iron-Deficiency ; Biopsy ; Chemotherapy, Adjuvant ; Child ; Diagnosis ; Drug Therapy ; Female ; Humans ; Intestine, Small ; Jejunum ; Korea ; Lymphoma ; Melena ; Neural Plate ; Neuroectodermal Tumors ; Neuroectodermal Tumors, Primitive ; Omentum ; Pediatrics ; Sarcoma, Ewing ; Tumor Burden

Ciliary rootlet coiled coil protein (CROCC), the structural component that originates from the basal body at the proximal end of the ciliary rootlet, plays a crucial role in maintaining the cellular integrity of ciliated cells. In the current study, we cloned Xenopus CROCC and performed the expression analysis. The amino acid sequence of Xenopus laevis was related to those of Drosophila, cow, goat, horse, chicken, mouse and human. Reverse transcription polymerase chain reaction analysis revealed that CROCC mRNA encoding a coiled coil protein was present maternally, as well as throughout early development. In situ hybridization indicated that CROCC mRNA occurred in the animal pole of embryo during gastrulation and subsequently in the presumptive neuroectoderm at the end of gastrulation. At tailbud stages, CROCC mRNA expression was localized in the anterior roof plate of the developing brain, pharyngeal epithelium connected to gills, esophagus, olfactory placode, intestine and nephrostomes of the pronephric kidney. Our study suggests that CROCC may be responsible for control of the development of various ciliated organs.
Amino Acid Sequence ; Animals ; Basal Bodies ; Brain ; Chickens ; Clone Cells ; Drosophila ; Embryonic Structures ; Epithelium ; Esophagus ; Gastrulation ; Gills ; Goats ; Horses ; Humans ; In Situ Hybridization ; Intestines ; Kidney ; Mice ; Neural Plate ; Polymerase Chain Reaction ; Reverse Transcription ; RNA, Messenger* ; Xenopus laevis ; Xenopus*

Neural crest and placodes share a number of important features, pointing to a possible common evolutionary origin. They both arise from the neural plate border, which is the boundary between the non-neural ectoderm and neural plate. The transcription factor Sox9 has been implicated in neural crest and otic placode induction in several species. To investigate the differential regulation of neural crest and otic placode induction by Sox9, a gain of function assay was performed using a hormone-inducible version of the Sox9 construct at different doses and time periods. Sox9 was expressed in both neural crest and otic placode cell populations in the same stage embryos by in situ hybridization. Using a gain of function approach, increased expression of neural crest marker (Snail2) and otic placode marker (Pax8) in Sox9-overexpressed embryos was observed. Higher dose of Sox9 reduced or eliminated both neural crest and placode cells in the embryos. Interestingly, otic placodes cells were more strongly affected as compared to neural crest cells. So, optimal dosage and timing of Sox9 expression are important for the development of the neural crest and otic placode. The development of the neural crest and otic placode are affected by Sox9 in a time- and dose-dependent manner.
Ectoderm ; Embryonic Structures ; In Situ Hybridization ; Neural Crest* ; Neural Plate ; Transcription Factors ; Xenopus

The microRNAs (miRNAs) are small, non-coding RNAs that modulate protein expression by interfering with target mRNA translation or stability. miRNAs play crucial roles in various functions such as cellular, developmental, and physiological processes. The spatial expression patterns of miRNAs are very essential for identifying their functions. The expressions of miR-302 and miR-367 are critical in maintaining stemness of pluripotent stem cells, including embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) but their functions in early development are not fully elucidated. So, we used Locked Nucleic Acid (LNA) probes to perform in situ hybridization and confirmed the temporal and spatial distribution patterns during early chick development. As a result, we found that miR-302 and miR-367 were expressed in various tissues such as primitive steak, neural ectoderm, neural plate, neural fold, neural tube, notochord, and oral cavity. Specially, we confirmed that miR-302 and miR-367 were strongly expressed in neural folds in HH8 to HH10. miR-302 was expressed on dorsal part of the neural tube but miR-367 was expressed on lateral and ventral parts of the neural tube. And also we performed quantitative stem-loop real-time PCR to analyze global expression level of miR-302 and miR-367. miR-302 and miR-367 expression was sustained before Hamburger and Hamilton stage (HH) 14. Thus, the temporal and spatial expression patterns of miR-302 and miR-367 may provide us information of the role of these miRNAs on tissue formation during early chick development.
Ectoderm ; Embryonic Stem Cells ; In Situ Hybridization ; Induced Pluripotent Stem Cells ; MicroRNAs ; Mouth ; Neural Crest ; Neural Plate ; Neural Tube ; Notochord ; Physiological Processes ; Pluripotent Stem Cells ; Protein Biosynthesis ; Real-Time Polymerase Chain Reaction ; RNA, Untranslated

Neurofibromatosis type 1 (NF1) is a genetic disease characterized by neoplastic and non-neoplastic disorders involving tissues of neuroectodermal and mesenchymal origin. NF1 is caused by mutations in the NF1 gene, which is found on chromosome 17q11.2. Patients with NF1 are at increased risk of developing soft tissue sarcomas that arise within the stromal compartment of the gastrointestinal tract, termed gastrointestinal stromal tumors (GISTs). GISTs associated with neurofibromatosis differ from sporadic GISTs, particularly with respect to their lower response rate to imatinib. We recently experienced a case involving a 45-year-old man with NF1 who was admitted to the hospital with epigastric pain and vomiting. Abdominal computed tomography revealed a duodenal GIST with pancreatic invasion. He had a base substitution mutation involving replacement of 2041 cytosine with thymine. He was treated successfully with a surgical operation and adjuvant imatinib therapy.
Benzamides ; Cytosine ; Gastrointestinal Stromal Tumors* ; Gastrointestinal Tract ; Genes, Neurofibromatosis 1 ; Humans ; Middle Aged ; Neural Plate ; Neurofibromatoses* ; Neurofibromatosis 1* ; Piperazines ; Pyrimidines ; Sarcoma ; Thymine ; Vomiting ; Imatinib Mesylate

Neurofibromatosis type 1 (NF1) is a genetic disease characterized by neoplastic and non-neoplastic disorders involving tissues of neuroectodermal and mesenchymal origin. NF1 is caused by mutations in the NF1 gene, which is found on chromosome 17q11.2. Patients with NF1 are at increased risk of developing soft tissue sarcomas that arise within the stromal compartment of the gastrointestinal tract, termed gastrointestinal stromal tumors (GISTs). GISTs associated with neurofibromatosis differ from sporadic GISTs, particularly with respect to their lower response rate to imatinib. We recently experienced a case involving a 45-year-old man with NF1 who was admitted to the hospital with epigastric pain and vomiting. Abdominal computed tomography revealed a duodenal GIST with pancreatic invasion. He had a base substitution mutation involving replacement of 2041 cytosine with thymine. He was treated successfully with a surgical operation and adjuvant imatinib therapy.
Benzamides ; Cytosine ; Gastrointestinal Stromal Tumors* ; Gastrointestinal Tract ; Genes, Neurofibromatosis 1 ; Humans ; Middle Aged ; Neural Plate ; Neurofibromatoses* ; Neurofibromatosis 1* ; Piperazines ; Pyrimidines ; Sarcoma ; Thymine ; Vomiting ; Imatinib Mesylate

A primitive neuroectodermal tumor is a highly malignant, small, round-cell tumor characterized by a neuroectodermal origin and poor prognosis. These tumors are found in nervous tissue in children and adolescents. The thoracopulmonary region is known to be the most common site of this disease, and it is rare that a primitive neuroectodermal tumor would occur in the nasal cavity. We report a case of a primitive neuroectodermal tumor in the left nasal cavity with a review of relevant literature.
Adolescent ; Child ; Humans ; Nasal Cavity* ; Neural Plate ; Neuroectodermal Tumors ; Neuroectodermal Tumors, Primitive* ; Prognosis