Lynch syndrome (LS) is the most common hereditary syndrome
that predisposes patients to colorectal cancer, and it accounts
for 2&#8211;5% of the total burden of colorectal cancer. We report
a case of a 61-year-old female affected by Lynch syndrome
who underwent multiple adenocarcinoma resections, studied
by F18-FDG-PET/CT for 5 years. This case report suggests
a potential role of F18-FDG-PET/CT in the evaluation of patients
affected by Lynch syndrome.
Nuclear Med Rev 2010; 13, 2: 87&#8211;8

Bertagna, Francesco

Biaotto, Gsiiorgio

Bosio, Giovanni

Giubbini, Raffaele

Lucchini, Silvia

Pizzocaro, Claudio

Rossini, Pierluigi

Terzi, Arturo

English

Via Medica Journals

87Nuclear Medicine Review 2010Vol. 13, No. 2, pp. 87–89 Copyright © 2010 Via MedicaISSN 1506–9680www.nmr.viamedica.plCase reportAbstractLynch syndrome (LS) is the most common hereditary syndrome that predisposes patients to colorectal cancer, and it accounts for 2–5% of the total burden of colorectal cancer. We report a case of a 61-year-old female affected by Lynch syndrome who underwent multiple adenocarcinoma resections, studied by F18-FDG-PET/CT for 5 years. This case report suggests a potential role of F18-FDG-PET/CT in the evaluation of patients affected by Lynch syndrome.Key words: PET, neurofibromatosis, malignant degeneration Nuclear Med Rev 2010; 13, 2: 87–89IntroductionLynch syndrome (LS) is the most common hereditary syn-drome that predisposes patients to colorectal cancer, and it ac-counts for 2–5% of the total burden of colorectal cancer [1]. Since the identification of mismatch repair mutations in this syndrome, it has become known as Lynch syndrome and is characterized by germline mutation in a mismatch repair gene, most commonly MLH1, MSH2, or MSH6 [2]. It is now quite common to identify a germline mutation in one of the mismatch repair genes. It is characterised by an autosomal dominant inheritance pattern, F18-FDG-PET/CT in a patient affected by Lynch syndromeCorrespondence to: Francesco BertagnaDepartment of Nuclear Medicine, Spedali Civili di BresciaPiazza Spedali Civili, 1, 25123 Brescia, ItalyTel: (+39) 30 3995468, fax: (+39) 30 3995420e-mail: francesco.bertagna@spedalicivili.brescia.itright-sided colonic cancer predilection, earlier average age of onset of colorectal cancer than in the general population, ac-celerated carcinogenesis, high risk of additional colorectal can-cers, and increased risk of malignant disease at other sites like the pancreas, upper uroepithelial tract, endometrium, ovary, brain (Turcot’s syndrome variant of LS), stomach, small bowel, hepatobiliary tract [2], and increased survival from colorectal cancer. Once a high-risk individual is recognized, management focuses primarily on strategies for risk reduction. Colonoscopic screening has been shown to significantly improve survival among carriers of a mutation associated with LS. Recommenda-tions for at-risk members of families with LS include screening colonoscopy, endometrial sampling, transvaginal ultrasound, and in selected cases prophylactic colon and ovary or uterine surgery [3]. Surgery is the mainstay of treatment and can be prophylactic or therapeutic with curative or palliative intent. The type and extent of surgical resection is influenced by the effectiveness of, and patient compliance with, available surveillance strategies. There are no guidelines regarding the timing of surgery. Colectomy is recommended for patients with Lynch syndrome who have colorectal cancer, but the choice of procedure remains con-troversial as surgical options include a total proctocolectomy (TPC) with permanent ileostomy, a total proctocolectomy with ileal pouch anal anastomosis (IPAA), or a subtotal colectomy with ileorectal anastomosis (IRA) [4]. Case reportWe report the case of a 61-year-old female affected by LS studied by F18-FDG-PET/CT for 5 years. The patient underwent hysteoannessiectomy for an ovarian cancer in 1989, right hemi-colectomy for adenocarcinoma in 1991, and another resection of transverse colon and part of the descending colon because of a disease relapse. In 2005 the patient developed an ad-enocarcinoma of the rectum and underwent extended surgical resection of the remnant colon and rectum with permanent ileostomy; a subsequent diagnosis of LS was given. In 2006 an endoscopic examination revealed an infiltrative duodenal lesion, and the patient underwent an F18-FDG-PET/CT that confirmed this finding (Figure 1-A1). A resection of the head of the pancreas and duodenum was performed and two PET studies during 2007 remained negative (Figure 1-A2; Figure 1-A3). In 2008, after a rising value of CA19.9 marker, a new Francesco Bertagna3, Giorgio Biasiotto2, Giovanni Bosio1, Silvia Lucchini1, Claudio Pizzocaro1, Arturo Terzi1, Pierluigi Rossini1, Raffaele Giubbini31Nuclear Medicine, Spedali Civili di Brescia, Brescia, Italy2Biomedical Technology Department, University of Brescia, Brescia, Italy3Chair of Nuclear Medicine, University of Brescia, Brescia, Italy[Received 02 IX 2010; Accepted 18 II 2011]88Nuclear Medicine Review 2010, Vol. 13, No. 2www.nmr.viamedica.plCase reportF18-FDG-PET/CT was performed revealing pathologic uptake at a solid mesenteric lesion, just ahead of the right ureter (Figure 1-A4). Chemotherapy was started, and after two cycles another PET study revealed no significant uptake reduction (Figure 1-A5). At the beginning of 2009 another PET study documented disease progression at the end of chemotherapy at the same site (Figure 1-A6); on the basis of these findings, radiotherapy was performed with moderate effect in terms of uptake reduction in the middle of 2009 (Figure 1-A7), but, unfortunately, at the end of 2009 another PET study documented a slight increase of pathologic uptake at mesenteric lesion (Figure 1-A8) and CA19.9 elevation; at the beginning of 2010 significant disease progression in terms of higher uptake, a new mesenteric lesion near the previous one, and significant CA19.9 elevation were documented (Figure 1-A9). DiscussionThe role of F18-FDG-PET/CT in oncologic imaging is well established; it has gained widespread acceptance as a diag-nostic tool in oncology and is an increasingly important imaging test [5]. Numerous reports are available in literature about the usefulness and diagnostic role of F18-FDG-PET/CT in evalu-ating pancreatic, endometrial, gastro-intestinal, and ovarian malignancies [6–9]; moreover, current evidence suggests that F18-FDG-PET/CT has an established role as a routine component of colorectal cancer (CRC) patient management in the detection of recurrent [10, 11] or residual disease and preoperative assess-ment prior to metastasectomy. It is likely that further evidence will support the emerging roles in the staging, radiotherapy treatment planning, and assessment of treatment response both for primary tumours and metastases [12, 13]. This evidence suggests that F18-FDG-PET/CT could be considered an imaging tool able to usefully evaluate all the organs possibly affected by malignan-cies in LS because of their hypermetabolic behaviour. To our knowledge there are no reports in literature about LS evaluation using F18-FDG-PET/CT, and this case report reveals how PET studies could be useful in evaluating this kind of patient both in terms of staging/restaging and therapy efficacy monitor-ing, possibly modifying and guiding clinical management and therapeutic decision making. In conclusion, a potential role of F18-FDG-PET/CT in the evaluation of patients affected by LS should be considered despite the fact that wider studies are needed to definitively confirm this insight.References1. Hampel H, Frankel WL, Martin E et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008; 26: 5783–5788.2. Lynch HT, de la Chapelle A. Genomic medicine: hereditary colorectal cancer. N Engl J Med 2003; 348: 919–932.Figure 1. In this figure maximum intensity projection images of all F18-FDG-PET/CTs are reported; in particular Figure 1-A1 reports left lateral and anterior views of the study performed in 2006, showing the lesion (arrows); Figure 1-A2 and Figure 1-A3 report left lateral and anterior views of the negative studies performed during 2007; Figure 1-A4 shows the site of disease in a 30° right oblique view of the study performed in 2008; Figure 1-A5 reports the anterior view of a study performed in the same year where the persistent pathologic uptake is visible; Figure 1-A6 shows the ante-rior view of the study performed in 2009 revealing diseases progression (arrow); Figure 1-A7 shows the anterior view of the study performed in 2009 after radiotherapy documenting an uptake reduction; Figure 1-A8 and Figure 1-A9 show anterior views of the studies performed at the end of 2009 and at the beginning of 2010 revealing disease relapse and progression.89www.nmr.viamedica.plFrancesco Bertagna et al. F18-FDG-PET/CT in a patient affected by Lynch syndromeCase report3. Smith KD, Rodriguez-Bigas MA. Role of surgery in familial adenoma-tous polyposis and hereditary nonpolyposis colorectal cancer (Lynch syndrome). Surg Oncol Clin N Am 2009; 18: 705–715.4. Lindor NM, Petersen GM, Hadley DW et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 2006; 296: 1507–1517.5. Hustinx R, Bénard F, Alavi A. Whole-body FDG-PET imaging in the management of patients with cancer. Semin Nucl Med 2002; 32: 35–46.6. Prakash P, Cronin CG, Blake MA. Role of PET/CT in ovarian cancer. AJR Am J Roentgenol 2010; 194: 464–470.7. Delbeke D, Martin WH. PET and PET/CT for pancreatic malignancies. Surg Oncol Clin N Am 2010; 19: 235–254.8. Picchio M, Mangili G, Samanes Gajate AM et al. High-grade endome-trial cancer: value of [(18)F]FDG PET/CT in preoperative staging. Nucl Med Commun. 2010; 31: 506–512.9. Wong WL, Chambers RJ. Role of PET/PET CT in the staging and restaging of thoracic oesophageal cancer and gastro-oesophageal cancer: a literature review. Abdom Imaging 2008; 33: 183–190.10. Shamim SA, Kumar R, Halanaik D et al. Role of FDG-PET/CT in de-tection of recurrent disease in colorectal cancer. Nucl Med Commun 2010; 31: 590–596.11. Kyoto Y, Momose M, Kondo C et al. Ability of 18F-FDG PET/CT to diagnose recurrent colorectal cancer in patients with elevated CEA concentrations. Ann Nucl Med 2010; 24: 395–401. 12. Herbertson RA, Scarsbrook AF, Lee ST et al. Established, emerging and future roles of PET/CT in the management of colorectal cancer. Clin Radiol 2009; 64: 225–237.13. Glazer ES, Beaty K, Abdalla EK et al. Effectiveness of positron emis-sion tomography for predicting chemotherapy response in colorectal cancer liver metastases. Arch Surg 2010; 145: 340–345.

F18-FDG-PET/CT in a patient affected by Lynch syndrome

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F18-FDG-PET/CT in a patient affected by Lynch syndrome

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