Dickinson, A.

Koskenvuo, L.

Lepisto, A.

Makitie, A.

Renkonen, S.

Tuomainen, K.

Clinical Otolaryngology

English

A. Dickinson

L. Koskenvuo

K. Tuomainen

A. Mäkitie

A. Lepistö

S. Renkonen

Crossref

A differential diagnosis of a head and neck bony lesion: Review of a case series with 18 patients with extraintestinal features of familial adenomatous polyposis

Helsingin yliopiston digitaalinen arkisto

CorrespondenceH. Mohammed, ENT Department, Norfolk and Norwich UniversityHospital NHS Trust, Norwich, NR4 7UY, UK.Email: hmohammed@nhs.netREFERENCES1. Hecht J. City of light: the story of fiber optics / Jeff Hecht. New York:Oxford University Press; 1999.2. Fleming JC, Al-Radhi Y, Kurian A, Mitchell DB. Comparative study offlexible nasoendoscopic and rigid endoscopic examination forpatients with upper aerodigestive tract symptoms. J Laryngol Otol.2013;127:1012-1016.3. Bertino G, Cacciola S, Fernandes WB Jr, et al. Effectiveness of nar-row band imaging in the detection of premalignant and malignantlesions of the larynx: validation of a new endoscopic clinical classifi-cation. Head Neck. 2015;37:215-222.4. McGarey PO Jr, O’Rourke AK, Owen SR, et al. RIgid esophagoscopyfor head and neck cancer staging and the incidence of synchronousesophageal malignant neoplasms. JAMA. 2016;142:40-45.5. Belafsky PC, Postma GN, Koufman JA. Normal transnasal esophago-scopy. Ear Nose Throat J. 2001;80:438.6. Aviv JE, Takoudes TG, Ma G, Close LG. Office-based esophagoscopy:a preliminary report. Otolaryngol Head Neck Surg. 2001;125:170-175.7. Belafsky PC, Postma GN, Daniel E, Koufman JA. Transnasal esopha-goscopy. Otolaryngol Head Neck Surg. 2001;125:588-589.8. Price T, Sharma A, Snelling J., et al. How we do it: the role of trans-nasal flexible laryngo-oesophagoscopy (TNFLO) in ENT: One year’sexperience in a head neck orientated practice in the UK. Clin Oto-laryngol. 2005;30:551-5569. Ahuja NK, Chan WW. Assessing upper esophageal sphincter functionin clinical practice: a primer. Curr Gastroenterol Rep. 2016;18:7.10. Abou-Nader L, Wilson JA, Paleri V. Transnasal oesophagoscopy: diag-nostic management outcomes in a prospective cohort of 257 consec-utive cases practice implications. Clin Otolaryngol. 2014;39:108-113DOI: 10.1111/coa.13062Accepted: 7 January 2018A differential diagnosis of a head and neck bony lesion:Review of a case series with 18 patients with extraintestinalfeatures of familial adenomatous polyposis1 | INTRODUCTIONWe would like to draw to the attention of head and neck surgeonsthe following disease that can present first to head and neck special-ists with either a head and neck lump or following an incidental find-ing on radiological imaging.Familial adenomatous polyposis (FAP) is a hereditary diseasecaused by a mutation in the APC gene on chromosome 5, whichis inherited in an autosomal dominant fashion with completepenetrance but variable expression.1 However in approximately25% of cases, it arises from a de novo mutation of the APCgene.1 FAP affects between 1 in 13 000 and 18 000 live birthsin the Northern European population2 and is characterised byhundreds to thousands of colorectal polyps, which almost inevita-bly lead to colorectal cancer (CRC) by the age of 35-40 yearswithout a prophylactic proctocolectomy.2,3 In the Swedish Famil-ial Adenomatous Polyposis Registry, the median age of diagnosiswith CRC was 42 years, and the median age of diagnosis with-out CRC was 34, with asymptomatic relatives diagnosed at amedian age of 22 years. The average age of progression to col-orectal carcinoma is 35-40 years.2 As the disease is multisystem,there are multiple extracolonic manifestations, affecting endo-derm, ectoderm and mesoderm layers. Endodermal lesions includeintestinal polyps and various carcinomas including thyroid, pan-creas, adrenals; ectodermal lesions include the epidermoid cyst,CNS tumours, especially medulloblastomas, desmoid tumours,lipomas and mesodermal lesions include osteomas and dentalabnormalities.2,4Among these FAP patients, those with benign extracolonic fea-tures such as osteomas, desmoid tumours, epidermoid cysts, orskin fibromas have a subtype named Gardner syndrome,1,5,6 origi-nally described by Gardner in 1953.7 Another subtype is calledTurcot syndrome, in which patients have FAP associated withCNS tumours.2,4FAP should be considered in the differential diagnosis for headand neck lumps, as one of the common features of this disease isosteomas, often multiple, along with soft tissue tumours, which can befound in the head and neck region.2 The extraintestinal features ofFAP can present many years before the development of symptomaticabdominal polyposis,5,8 which can present an excellent opportunity tobegin screening and management of the condition.We present a series of 18 patients with FAP who were found tohave osteomas, a proportion of whom were first seen with osteomasby an otolaryngologist—head and neck surgeon, maxillofacial sur-geon or dentist. These can either be found incidentally on OPG andreferred on, or be referred by primary care as a hard lump in thehead and neck region.928 | CORRESPONDENCE: OUR EXPERIENCE2 | METHODSWe used the Finnish research registry for FAP, which has recordedall the Finnish cases of FAP, which covers patients and their familiessince 1963-2017. Included in the registry are 419 patients from 179families. The FAP patients were diagnosed by endoscopic screeningor, from the year 1996 onwards, by genetic testing in combinationwith endoscopy. Retrospective review of the medical notes of these419 patients identified the presence of osteomas and site ifrecorded, date and method of diagnosis of FAP.Ethics/Permissions: The FAP registry obtains a research permit fromthe Finnish National Institute for Health and Welfare (Dnro. THL/1068/5.05.00/2015) and an institutional Research Ethics Board Approval(Dnro. 104/13/03/02/2015) at the Helsinki University Hospital.3 | RESULTSThe FAP registry demographics were 222 (53%) female, 197 (47%)male. Median age of diagnosis of FAP was 30 years, range 0-87,interquartile (IQ) range 19-45. A total of 194 patients (46%) werediagnosed based on symptoms, 142 (34%) were asymptomatic anddiagnosed with colonoscopy screening, and 83 (20%) were asymp-tomatic, diagnosed with APC gene analysis.Osteoma was found in 18 patients, which is 4.3% of patients inthe FAP registry. These patients are described in Table 1. In six(33%) of these 18 patients, an osteoma was the first presentation ofthe disease to a healthcare professional, and they were subsequentlydiagnosed with FAP. Ten (55%) had multiple osteomas at presenta-tion, and 8 (45%) had a solitary osteoma at presentation.4 | DISCUSSIONThis was a review of the registry based on the diagnoses available.These FAP patients were not routinely screened radiologically forosteomas; therefore, these findings and diagnoses have been inci-dental. The patients who were found to have osteomas were of asimilar gender distribution to the general FAP population. Patientswho presented first with osteomas were diagnosed at a median ageof 20 years. Interestingly, there was no significant differencebetween the ages at diagnosis in the patients who presented firstwith the osteoma compared to the group with osteomas present.Keypoints• Familial adenomatous polyposis (FAP) is an autosomaldominant cancer syndrome.• FAP can affect most body systems, and patients candevelop osteomas and tumours of the skin, which can bedetected before the onset on cancer.• We present 18 patients from a register of 419 patientswith FAP who reportedly had an osteoma. Two thirds(94%) of these patients had osteomas in the mandible ormaxilla.• One-third of the patients with osteomas presented firstwith the osteomas and were subsequently diagnosedwith FAP.• The presence of osteomas can predate the developmentof symptoms in FAP by many years.TABLE 1 Patient demographics and osteoma locationOsteomas present Osteoma diagnosed firstOsteomas found afterFAP diagnosisn= 18 6 12Sex Female 9 2 7Male 9 4 5Age at presentation whendiagnosed firstwith osteoma6, 14, 15, 15, 30, 38Age at FAP diagnosis Range, average,median5-57, 26.4, 21.5 15-40, 23.3, 20(ages corresponding with abovepatients: 21, 19, 15, 15, 30, 40)Osteoma site Maxilla 5Mandible 12 (1 of these was laterre-diagnosed as anosteoblastoma.)Frontal bone 3Skull 7Elsewhere 2 (forearm, limb)Number ofosteomasMultiple 10Solitary 8CORRESPONDENCE: OUR EXPERIENCE | 929However, three of the six patients who first presented with osteo-mas were still not diagnosed with FAP until 2, 5 and 15 years later.In these cases, the diagnosis of FAP would have been possible muchearlier if the clinicians were aware of FAP syndrome; however dueto the limited sample size, it is difficult to infer whether this is repre-sentative.In our sample, the most common site of osteomas was in themandible, in keeping with the literature where the angle of themandible is the most common location.2,9 Interestingly, one diag-nosed osteoma was later reclassified as an osteoblastoma.Osteoblastoma in FAP has not previously been reported in the Eng-lish literature.Patients with osteomas, especially if multiple, or if associatedwith other soft tissue tumours and/or dental abnormalities should beinvestigated for FAP, given the severity of the condition and theimplications of delayed diagnosis for development of colorectal carci-noma. In our sample 45% of cases presented with solitary osteomas,therefore, it is worthwhile considering the diagnosis even in this case(eg a solitary osteoma can be seen in Figure 1). Previous reportsestimate that 46%-93% of patients with FAP have osteomatouschanges of the jaws,8 and others report that 61%5 of FAP patientshave bony changes associated with the disease of patients with ade-quate X-ray examination. As the patients in the Finnish registry werenot routinely screened for this condition it is probable that a largerproportion has the bony changes. It is imperative that specialistswho may be involved in the care may be able to spot extraintestinalmanifestations to expedite the diagnosis, especially when the pres-ence of osteomas can signify the first presentation of such a dis-ease.As osteomas are benign, there are various indications describedin the literature for their removal. Suggested indications are if: theyinterfere with normal function or cause deformity8; there is sign ofgrowth in osteomas situated within the sinuses; their location risksobstruction of anatomical drainage sites; they cause symptoms ofchronic sinusitis; they risk impinging on important structures such asthe orbit.9 The imaging modality of choice is thin-slice CT to allow aprecise estimation of size and location of the osteoma.8,10 From ourretrospective case series, we are aware of two of the patients havinghad surgical treatment for their osteomas. One had a wide frontalbone excision with bony reconstruction using the iliac crest, and theother had the osteoma excised.Although this is a rare diagnosis, FAP has serious clinical signifi-cance especially if missed, as without prophylactic colectomy/procto-colectomy the risk of colorectal cancer is almost inevitable. It isimportant to ask about osteomas or lumps elsewhere, family historyof gastrointestinal pathology, cancers and gastrointestinal symptoms,and to refer to a unit with expertise in the field of this hereditarypolyposis if there is any suggestion that this could be FAP. Importantsymptoms to ask about are weight loss, diarrhoea, mucous discharge,rectal bleeding, abdominal pain or cramping, and anaemia statusshould also be assessed.8 It is advised that patients with FAPundergo bowel, upper gastrointestinal, thyroid and possibly hepaticsurveillance given the associated malignancy risk.2,4,85 | LIMITATIONS1. Lack of screening for osteomas, thus it is difficult to know theaccurate incidence and locations in this population.2. Historical nature of the notes. Usually, osteomas were incidental,and little information was written about them.3. Small sample size.6 | CONCLUSIONWe want to raise awareness of the presence osteomas and their rolein FAP, which is a significant life-limiting disease, so that the patientand family can be screened for this and managed accordingly.CONFLICTS OF INTERESTThere are no conflict of interests.ORCIDA. Dickinson http://orcid.org/0000-0003-4559-7819A. M€akitie http://orcid.org/0000-0002-0451-2404A. Dickinson1L. Koskenvuo2K. Tuomainen1A. M€akitie1,3A. Lepist€o2S. Renkonen1,41Departments of Otorhinolaryngology, Head and Neck Surgery,University of Helsinki, Helsinki University Hospital, Helsinki, Finland2Department of Gastrointestinal Surgery, University of Helsinki, HelsinkiUniversity Hospital, Helsinki, Finland3Division of Ear Nose and Throat Diseases, Department of ClinicalSciences, Intervention and Technology, Karolinska Institute andF IGURE 1 Orthopantomogram showing a solitary osteoma of theleft mandibular ramus930 | CORRESPONDENCE: OUR EXPERIENCEKarolinska Hospital, Stockholm, Sweden4Department of Biosciences and Nutrition, Karolinska Institutet,Stockholm, SwedenCorrespondenceAmy Dickinson, Departments of Otorhinolaryngology, Head and NeckSurgery, University of Helsinki, Helsinki University Hospital, Helsinki,Finland.Email: amyjmdickinson@gmail.comREFERENCES1. Fearnhead NS, Britton MP, Bodmer WF. The ABC of APC. Hum MolGenet. 2001;10:721-733.2. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am JGastroenterol. 2006;101:385-398.3. Bussey HJR. Familial polyposis coli family studies, histopathology, dif-ferential diagnosis, and results of treatment. Baltimore: Johns HopkinsUniversity Press; 1975.4. Groen EJ, Roos A, Muntinghe FL, et al. Extra-intestinal manifesta-tions of familial adenomatous polyposis. Ann Surg Oncol.2008;15:2439-2450.5. Jarvinen HJ, Peltokallio P, Landtman M, Wolf J. Gardner’s stigmas inpatients with familial adenomatosis coli. Br J Surg. 1982;69:718-721.6. Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J. Familial adeno-matous polyposis (FAP): frequency, penetrance, and mutation rate.Hum Mutat. 1994;3:121-125.7. Gardner EJ, Richards RC. Multiple cutaneous and subcutaneouslesions occurring simultaneously with hereditary polyposis and osteo-matosis. Am J Hum Genet. 1953;5:139-147.8. Boffano P, Bosco GF, Gerbino G. The surgical management of oraland maxillofacial manifestations of Gardner syndrome. J Oral Maxillo-fac Surg. 2010;68:2549-2554.9. Jones K, Korzcak P. The diagnostic significance and management ofGardner’s syndrome. Br J Oral Maxillofac Surg. 1990;28:80-84.10. Lee DH, Jung SH, Yoon TM, Lee JK, Joo YE, Lim SC. Characteristicsof paranasal sinus osteoma and treatment outcomes. Acta Otolaryn-gol. 2015;135:602-607.DOI: 10.1111/coa.13063Accepted: 7 January 2018Accuracy of FDG PET-CT response assessment followingradiotherapy alone for head and neck squamous cellcarcinoma: Retrospective analysis of 45 patients1 | INTRODUCTIONFluorine-18 fluorodeoxyglucose (FDG) positron emission tomogra-phy-computerised tomography (PET-CT) is established as anaccurate tool for response assessment following concurrentchemoradiotherapy for head and neck squamous cell carcinoma,with a high negative predictive value (NPV), guiding selectivesurgical intervention.1-3 The phase III PET neck surveillance trialdemonstrated that PET-CT-guided imaging surveillance followingconcurrent chemoradiotherapy compared with a planned neck dis-section achieved similar survival with far fewer neck dissectionsand was cost-effective.2 However, the addition of concurrentchemotherapy to radiotherapy is often contraindicated due tocomorbidity and has not been found to be beneficial to patientswith stage I/II disease, age ≥70 years old, WHO performance sta-tus ≥2.4 There is a paucity of data to determine whether responseassessment PET-CT after radiotherapy alone is sufficiently accurateto influence management.In our centre, we have adopted a policy of observation if a com-plete metabolic response on PET-CT is achieved followingradiotherapy  chemotherapy.3,5 The aim of this report was to anal-yse the accuracy of FDG PET-CT response assessment followingradiotherapy alone without a planned neck dissection.2 | METHODS2.1 | Ethical considerationsThe study was registered with the Institutional Quality ImprovementBoard.2.2 | Study designA total of 45 consecutive patients with head and neck squamous cellcarcinoma who underwent FDG PET-CT for response assessmentfollowing curative-intent radiotherapy (without chemotherapy)between 2009 and 2014 were retrospectively identified. Inclusioncriteria were (i) squamous cell carcinoma of the oropharynx, larynx,hypopharynx or unknown primary, (ii) radiotherapy with curativeintent and (iii) FDG PET-CT as a baseline prior to treatment. PatientsCORRESPONDENCE: OUR EXPERIENCE | 931

A differential diagnosis of a head and neck bony lesion : Review of a case series with 18 patients with extraintestinal features of familial adenomatous polyposis

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A differential diagnosis of a head and neck bony lesion : Review of a case series with 18 patients with extraintestinal features of familial adenomatous polyposis

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