Reduced delay in diagnosis of odontogenic keratocysts with malignant transformation:A case report

BACKGROUND In rare cases,odontogenic keratocysts(ODs)transform into squamous cell carcinoma.Intervals between the first attendance of a patient and the diagnosis of OD with malignant transformation vary from weeks to years.In this article,we report a case of malignancy derived from OD with a five-day delay in diagnosis.CASE SUMMARY A 54-year-old woman was referred to Tongji Hospital in Wuhan,China with complaints of moderate pain,recurrent swelling,and pus discharge around her left maxillary lateral incisor for over 10 years.Physical examination revealed a fistula at the palatine-side mucoperiosteum of the left maxillary lateral incisor and enlarged lymph node in the left neck.Cone beam computed tomography revealed a cystic lesion with massive bone destruction from the left maxillary central incisor to the left secondary maxillary premolar and local bony destruction in the left first mandibular molar.The patient was clinically diagnosed with OD.Enucleation rather than marsupialization was performed given the risk factors of long history,recent aggravated pain,and massive bony destruction.Malignant transformation of OD was confirmed by pathologists 3 d after the operation.Radical surgery was performed,and lymph node metastasis was observed.The patient was subjected to postoperative radiotherapy and synchronous chemotherapy,and no local recurrence or distant metastasis was noted at one-year follow-up.CONCLUSION Our case suggests that clinicians should be aware of the malignant transformation of OD,especially when patients present with a long history,massive cyst,chronic inflammation,recent persistent infections,aggravated pain,numbness around the cystic lesion,and lymph node enlargement.

Odontogenic Keratocyst Tumor: A Case Report and Literature Review

First described by Philipsen in 1956, the odontogenic keratocyst is characterized by a large squamous keratinization of its border, an aggressive growth and a high recurrent rate. It is now designated by the World Health Organization as a keratocystic odontogenic tumour (KOT). Clinically, the KOT is manifested by an asymptomatic growth. Radiographically, it appears as a well-defined uni-locular or multilocular osteolytic lesion. The diagnostic approach is based on a combined analysis of the medical history, the clinical appearance and the radiographic appearance. The diagnosis may be confirmed by the anatomical pathology report. Finally, treatment consists of surgical excision and follow up is characterized by a high rate of recurrence. The authors report a case of keratocystic odontogenic tumor of the upper jaw and review the various diagnoses, therapeutics and follow up aspects of this type of tumors.

Identification of the involvement of LOXL4 in generation of keratocystic odontogenic tumors by RNA-Seq analysis

Keratocystic odontogenic tumors （KCOT） are benign, locally aggressive intraosseous tumors of odontogenic origin. KCOT have a higher stromal microvessel density （MVD） than dentigerous cysts （DC） and normal oral mucosa. To identify genes in the stroma of KCOT involved in tumor development and progression, RNA sequencing （RNA-Seq） was performed using samples from KCOT and primary stromal fibroblasts isolated from gingival tissues. Seven candidate genes that possess a function potentially related to KCOT progression were selected and their expression levels were confirmed by quantitative PCR, immunohistochemistry and enzyme-linked immunosorbent assay. Expression of lysyl oxidase-like 4 （LOXL4）, the only candidate gene that encodes a secreted protein, was enhanced at both the mRNA and protein levels in KCOT stromal tissues and primary KCOT stromal fibroblasts compared to control tissues and primary fibroblasts （P〈0.05）. In vitro, high expression of LOXL4 could enhance proliferation and migration of the human umbilical vein endothelial cells （HUVECs）. There was a significant, positive correlation between LOXL4 protein expression and MVD in stroma of KCOT and control tissues （r=0.882）. These data suggest that abnormal expression of LOXL4 of KCOT may enhance angiogenesis in KCOT, which may help to promote the locally aggressive biological behavior of KCOT.

Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Odontogenic Tumors

Aim To clarify the role of PTCH in patients with NBCCS- related and non-sydromic keratocystic odontogenic tumors. Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. Results Four novel and two known mutations were identifled in 2 sporadic and 3 syndromic cases, two of which being germline mutations （c.2179delT, c.2824delC） and 4 somatic mutations （c.3162dupG, c.1362-1374dup, c.1012 C〉T, c.403C〉T）. Conclusion Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.

EXPRESSION AND SIGNIFICANCE OF bcl-2 FAMILY IN AMELOBLASTONA

Objective： To study the expression of bcl-2 and bax in human ameloblastoma （AB）, and investigate the role of apoptosis in genesis and development of AB and the relation of apoptosis with the clinic biological characteristics of AB. Methods： BCL-2 and BAX proteins were detected in 75 cases of AB （primary AB 31 cases, recurrent AB 37 cases, malignant AB 7 cases） by S-P method. Oral normal mucosa （NOM） and Odontogenic kerotosyst （OKC） were used as controls. Bcl-2 and bax mRNA in 20 cases of AB, 12 cases of OKC were detected by in situ hybridization. Results： The positive ratio of BCL-2 protein was 88.0% （66/75） in AB, 74.3% （26/35） in OKC and 44.4% （4/9） in NOM, respectively （P〈0.001）. BCL-2 protein was expressed in peripheral cells and a few scattered stellate-shape cells in AB. The positive ratio of BAX protein was 74.7% （56/75）in AB, 65.7%（23/35）in OKC and 77.8%（7/9） in NOM, respectively （P〈0.001）. BAX protein was expressed in peripheral cells and stellate-shape cells with similar intensity. BCL-2 expression increased in recurrent and AB canceration（P〈0.01）, while for BAX expression, the positive ratio was higher in recurrent AB, but lower than that of malignant AB. A moderate negative correlation between BCL-2 and BAX protein was found （rk=-0.331, P〈0.001）. Conclusion： AB has much more apoptosis-inhibiting protein than apoptosis- accelarating protein. Apoptosis plays an important role in genesis, development of AB. The fashion and intensity of bcl-2 and bax expression were different in various tissues and in benign or malignant AB.