原文題目

(1)

口腔病理科 On-Line KMU Student Bulletin

原文題目(出處)： Nevoid basal cell carcinoma syndrome in Indian patients:a clinical and radiological study of 6 cases and review of literature. Oral Surg Oral Med Oral Pathol Oral Radiol 2012;113:99-110

原文作者姓名： Gupta SR, Jaetli V, Mohanty S, Sharma R, Gupta A 通訊作者學校： Maulana Azad Institute of Dental Sciences, New Delhi,

India

報告者姓名(組別)：廖力行 Intern K 組

報告日期： 2012/07/10

內文：

Introduction

• Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome)

• infrequent multisystemic disease – Developmental anomalies

– predisposition to a range of neoplasms

• ancient Egyptian skeletons

• The first reported literature in 1894, highlighting the presence of multiple basocellular carcinomas (BCCs).

• Gorlin and Goltz in 1960 first established a classical triad of characteristics of NBCCS

– multiple BCCs

– multiple keratocysts of jaws – bifid ribs

• The odontogenic keratocysts associated with NBCCS are usually multiple and of the parakeratinized variety

• 2005 odontogenic keratocyst (OKC)

– Parakeratinized (Keratocystic odontogenic tumor )(KCOT) – Orthokeratinized (orthokeratinized odontogenic cyst)

• Other clinical manifestations

– hyperkeratosis of the palms and toes, – Skeletal abnormalities,

– intracranial ectopic calcifications, – facial dysmorphism

– Neurological, ophthalmic, sexual,cardiac, and auditory system anomalies have also been reported

• Prevalence 1 ： 57,000~ 1 ~256,000,

• Male-to-female ratio of 1:1

• The diagnostic criteria of NBCCSIs at least 2 major or 1 major and 2minor criteria are present

(2)

• NBCCS is inherited as autosomal dominant

• The mutations in tumor suppressor gene called Patched (PTCH 1),

• located in the 9q22.3–q31 chromosome,

• 2-hit hypothesis

• Cancer require 2 mutagenit hits

• Various physical abnormalities need only one hit

• 6 case in this article

• 17 cases reported in Indian

• purpose is to present characteristic clinical or radiological finding that is typically seen in Indian

• and to find out if these are different from those reported from others Material and method

(3)

• Extraoral and intraoral clinical examination orthopantomogram (OPG)

• Radiological evaluation of skull bones, chest, hands, feet, long bones, pelvis, and spine.

• Examination for palmar/planter pits

• Other departments for a multisystem evaluation.

• Cystic lesions in the jaw bones were biopsied and histopathological evaluation.

Result

• Major creteria

– Multiple KCOT (3~5)

– Calcidication of falx cerebri – Bifid rib (4^th and 5^th )

• Minor creteria

– Macrocephaly – Coarse face – Hypertelorism

– Bridging of sella turcica – Syndactyly /polydactyly

(4)

Result

• All 25 KCOT

• Sites

• Max. tuberosity: 7

• Max. canine premolar: 5

• Mand. Retromolar : 8

• Mand. Caine:5

• Internal structure

• All radiolucent: 17 uniloculor 8 multiloculo

• Periphery

• 15 well-defined, 10 ill-defined

• Shape of margin

(5)

• 21 present, 4 absent

• BL expansion 18 absent, 7 present

• Displacement of lower border of mand.

• None

• Max. 12/12 antral involvement

• Mand. 5/13 displacement of IDN canal

• Tooth/follicle displacement

• 3 absent；others yes

• Root resorption/dilaceration

• 8 resorption；1 dilaceration；16 absent

• Associated with impacted tooth

• 23 present

• Most common symptom was swelling with pain, foul-smelling discharge.

• Paresthesia/anesthesia was not associated

• Multiple cystic lesions in the jaws number ranged from 3 to 6 per patient,

• Site being the mandibular retromolar ， maxillary tuberosity ，maxillary canine-premolar ，mandibular canine-premolar region.

• Radiographic findings radiolucent, unilocular, well defined, and corticated、smooth borders

• Associated with impacted teeth and tooth follicle/tooth displacement

• Antral involvement was common

• Not previously reported

• Supernumerary teeth in case 1

• Talons cusp in case 4

• Small KCOTs enucleation aggressive Curettage Carnoy solution. (larger marsupialized)

• no recurrence in healed lesions and no new lesions in a follow-up ranging from 11 to 20 months.

(6)

Discussion

• Multiple KCOTs with NBCCS

– number from 1 to 30 with an average of 5 – occur at an early age, usually first decade

– CT revealed cortical perforation and additional small cysts that were not detected on OPG.

– high recurrence (60%) as compared with nonsyndromic KCOT (28%).

– Recurrence within 2 years to even 25 years after enucleation.

• The friable cyst lining site of involvement

• surgical accessibility, surgeon’s expertise

• Multiple KCOTs with NBCCS

• Regular follow-up

– every year for the first 5 years – and thereafter every 2 years

• Low-dose or nonionizing imaging modalities should be selected for surveillance

– involve annual conventional radiographic

– supplemented by preferably cone-beamCT or MRI

• Multiple BCC with NBCCS

– mostly seen in younger patients

– involve nonsun-exposed areas of the body.

– incidence varies widely among ethnic groups.

– 100% of whites – 38% of black

(7)

• Rib anomalies

– are reported in 30% to 60% of patients with NBCCS

– bifid ribs are more common, involving either the fifth, fourth, and third rib

– high frequency(74%) in Indian patients

• Calcification of falx cerebri

– is one of the most frequent radiological features(37% to 79%) – be more common in patients older than 20 years.

– high frequency (92%) in the Australian in 56% of Indian at a mean age of 22.9 years

• Ovarian fibromas and cysts

– are seen in 25% to 50% of female patients with NBCCS and are often bilateral (75%).

– were not seen in Indian women

• Medulloblastomas (now termed primitive neuroectodermal tumor) – are seen in 3% to 5%

– usually within the first 2 years

– Early-onset desmoplastic medulloblastoma

– may be the first presenting sign of NBCCS in children – younger than 3 years, as other major criteria may not be

evident at that age.

– Molecular genetic studies for

• Medulloblastomas (now termed primitive neuroectodermal tumor) – studies for PTCH1 gene mutations in early diagnosis

– Avoid Radiotherapy as they can develop BCC and other tumors – MRI

• every 6 months until 3 years of age

• annual follow-up until 7 years of age

• Diagnosis of NBCCS is made

– screening for the syndrome and genetic counseling in other family members

– NBCCS is usually a hereditary condition

– mutations in the PTCH1 gene reported in members of same family – but 30% to 50% of the cases have also been reported to be

sporadic in nature, presenting with new mutations

– phenotypevariability in NBCCS is a complex event probably arising from genetic and environmental factors.

• Diagnosis of NBCCS is made,

– Most cases in Indian are also apparently sporadic in nature, with the exception of cases 1 and 2 (father-son) reported in our case series.

– Molecular genetic studies for PTCH gene mutations are expensive and not available everywhere. There are no such studies reported in Indian patients with NBCCS at present.

• Clinical and radiological criteria will continue to play an important role in diagnosis NBCCS. New findings are being added just like we found supernumerary teeth and Talons cusp

• NBCCS is rare in the Indian population and the clinical radiological features in NBCCS vary in different ethnic groups, this study has tried to determine the features that are characteristic in Indian patients.

(8)

• The presence of multiple KCOTs, bifid/fused ribs, and calcification of falx cerebri, often help in diagnosis of NBCCS in Indian patients.

題號題目

1 Which one are not major criteria of NBCCS (A) Multiple KCOT (3~5)

(B) Alcidication of falx cerebri (C) Macrocephaly

(D) Bifid rib (4^th and 5^th ) 答案(C ) 出處：Table I

題號題目

2 What can help in diagnosis of NBCCS in Indian patients by this paper?

(A) Multiple KCOTs (B) Bifid/fused ribs

(C) Calcification of falx cerebri

(D) Above all

答案(D ) 出處：Conclusion