Orbital Lymphoma Research Articles

Patterns of care for orbital marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue in Korea throughout 2016: Results from a multicenter cross-sectional cohort study (KROG 16-19).

Primary orbital mucosa-associated lymphoid tissue (MALT) lymphomas are generally sensitive to radiotherapy (RT), but a "wait and see" strategy has also been used in asymptomatic patients. Recently, orbital MALT lymphoma has been reported to be associated with Chlamydia psittaci infection. This study aimed to assess the current patterns of care in clinical practice for orbital MALT lymphoma in South Korea. We performed a multicenter, cross-sectional cohort study of patterns of care for orbital MALT lymphoma in South Korea throughout 2016. All patients were pathologically confirmed to have orbital MALT lymphoma. Overall, eight institutions with 90 patients participated. The survey showed that the most frequent upfront treatment for orbital MALT lymphoma was RT (80/90, 90%). Other treatment modalities were given to a limited number of orbital MALT lymphoma patients as follows: watch and wait, 6/90 (7%); antibiotics, 3/90 (3%) and chemotherapy, 1/90 (1%). Generally, RT was administered to the entire involved site such as the entire conjunctiva/eyelid or entire orbit (96%), with a median total dose of 25.2Gy. Lens shielding was performed for most patients with conjunctival and eyelid tumors (93%). RT was the conventional treatment modality for orbital MALT lymphoma. Currently, RT is performed for the entire involved subsites at a lower dose than that previously used, and lens shielding was applied to minimize the orbital complication.

PB2056 ORBITAL LYMPHOMA: CLINICAL AND EPIDEMIOLOGICAL PATTERNS WITHIN THE UNITED STATES

Background:Lymphomas are relatively common tumors that may affect the orbit through tissue infiltration. However, data available about tumors possibly originating in orbit (also called orbital lymphoma) are scarce.Aims:In this study, we aimed to spotlight on this type of malignancy using the using data from American National Cancer Institute, Surveillance, Epidemiology, and End Results (SEER) Program.MethodsWe used SEER∗Stat version 8.3.5, Microsoft Excel, as well as SPSS IBM SPSS Statistics for Windows, Version 25.0 for data analysis. In SEER∗Stat, we used the (Incidence ‐ SEER 18 Regs Research Data + Hurricane Katrina Impacted Louisiana Cases, Nov 2017 Sub (1973‐2015 varying)) database to obtain data. We included cases diagnosed with lymphoma between 2006 and 2015 at site related to orbital cavity C69.0‐C69.9.Results:A total of 2340 cases were identified with a median age of 65.2. Females and patients of white race represented the majority of the analyzed cohort (n = 1249, 53.4%; n = 1846, 78.9%, respectively). Age‐adjusted Incidence rate was 3 per 10,000. 5‐years observed survival was 82% (95% CI: 79.8% ‐ 84%) while the 5‐years relative survival was 94.3% (95% CI: 91.3% ‐ 96.2%). The most common pathology of studied cases was extranodal marginal zone lymphoma of mucosal‐associated lymphoid tissue (MALT) (n = 1310, 56%) [Table 1]. Median survival was not reached at the study cutoff (Figure 1).Summary/Conclusion:Orbital lymphoma has an incidence rate of 3 per 10,000. These tumors are more likely to occur in old age, females, and white race. Survival data are relatively good with the 5‐years relative survival being 94.3%.image

Letter to the Editor—subtype-specific orbital lymphomas

Through the last decades, our knowledge about ocular adnexal lymphoma (OAL) including orbital lymphoma has increased markedly due to the focus on lymphoma subclassification and the focus on improved staging of OAL. Our retrospective study of 797 patients with orbital lymphoma (1), discussed in the Editorial by Stagner and Zukerberg (2), provides additional insight into this relatively rare disease.

Prevalence of a Histologic Change of Ocular Adnexal Lymphoma in Patients With a History of Lymphoma.

The authors examined the prevalence of a histologic change of ocular adnexal lymphoma (OAL) grade in patients with a history of lymphoma in nonocular sites. In this retrospective study, the authors reviewed the clinical and pathological data of 209 patients with OAL treated by the senior author during 2000 to 2017. Of 209 patients with OAL, 65 (31%) had a history of lymphoma. In 54 of the 65 patients (83%), the original lymphoma and OAL were of the same histologic type. In 8 of the 65 patients (12.3%), the OAL was more indolent than the original lymphoma: 6 patients with a history of diffuse large B-cell lymphoma, one of mantle cell lymphoma, and one of grade 3 follicular lymphoma had biopsy-proven extranodal marginal-zone lymphoma in the orbital area. Two additional patients (3%) with a history of chronic lymphocytic leukemia developed OAL: diffuse large B-cell lymphoma in one patient and extranodal marginal-zone lymphoma in the other. One patient (1.5%) with a history of a low-grade follicular lymphoma relapsed as a different low-grade histology of extranodal marginal-zone lymphoma. Lower-grade OAL than the original lymphoma was more common than higher-grade OAL than the original lymphoma (p = 0.048). In this cohort of 209 patients with OAL, the authors found that nearly one third had a history of lymphoma, 17% of whom had a different histologic type of lymphoma in the orbit, more commonly a more indolent type. This underscores the importance of biopsy of OAL even in patients with a known history of lymphoma to determine the histologic subtype of orbital lymphoma and to help guide appropriate treatment.

Long-term outcome, relapse patterns, and toxicity after radiotherapy for orbital mucosa-associated lymphoid tissue lymphoma: implications for radiotherapy optimization.

Although mucosa-associated lymphoid tissue lymphoma (MALToma) is sensitive to radiation therapy (RT), the optimal RT dose and treatment volumes have not been established. This study aimed to assess the relapse patterns and outcomes of patients with orbital MALToma who underwent RT and to suggest implications for optimized RT. We reviewed 212 patients (246 orbits) diagnosed with orbital MALToma who received RT between 1993 and 2013. Median RT dose was 25.2 Gy. Generally, conjunctival and eyelid lesions were irradiated with electrons, whereas retrobulbar and lacrimal gland lesions with photons. Lens shielding was used for 70% of treated eyes, mainly conjunctival and eyelid tumors. Relapse occurred in 29 patients. Among 11 patients with local relapse (LR), 4 were attributed to insufficient dose (n = 2) and improper RT volume (n = 2). The 10-year LR, contralateral orbit relapse, and distant relapse rates were 8.6%, 12.8% and 4.9%, respectively. Twelve patients died of disease-specific causes (n = 1) and intercurrent diseases (n = 11). The 10-year relapse-free survival, overall survival, and cause-specific survival rates were 69.7%, 88.2% and 98.8%, respectively. Grade 3 cataracts and nasolacrimal duct obstruction were observed in 27 and 4 orbits, respectively. Low-dose RT with proper lens shielding is an appropriate treatment for orbital MALToma in terms of high disease control rate and acceptable morbidity. However, lower RT dose may be attempted to further reduce toxicity while maintaining excellent outcomes.

EP-1268 Primary radiation therapy in stage I/II indolent orbital lymphoma: a single-center analysis

EP-1268 Primary radiation therapy in stage I/II indolent orbital lymphoma: a single-center analysis

Bilateral orbital angioimmunoblastic T-cell lymphoma: a report of 1 case

Bilateral orbital angioimmunoblastic T-cell lymphoma: a report of 1 case

Myasthenia Gravis Associated With Orbital Marginal Zone Lymphoma

Myasthenia Gravis Associated With Orbital Marginal Zone Lymphoma

Additional clinical insights into subtype-specific orbital lymphomas

Ocular adnexal (OA) lymphoproliferative disorders are a heterogeneous group of diseases that for many years were lumped together by clinical ophthalmologists for prognostication purposes (1). The majority are extranodal non-Hodgkin’s small B cell lymphomas, first largely characterized before current classification systems or diagnostic tools existed (2). The term “ocular adnexa” refers to the structures surrounding the eye itself including the orbital soft tissues, eyelids, conjunctiva, lacrimal production and drainage system and the extraocular muscles; each of these sites can be afflicted with disease.

Prospective non-invasive evaluation of CXCR4 expression for the diagnosis of MALT lymphoma using [68Ga]Ga-Pentixafor-PET/MRI.

MALT lymphomas express the chemokine receptor CXCR4 on a regular basis, and [68Ga]Ga-Pentixafor-PET has been shown to quantify CXCR4 expression non-invasively. We, therefore, aimed to evaluate [68Ga]Ga-Pentixafor-PET/MRI for the non-invasive assessment of MALT lymphomas.Methods: We included 36 MALT lymphoma patients, who had not undergone previous systemic or radiation therapy, in our prospective, IRB-approved, proof-of-concept study. Involved anatomic regions were the orbit (n=14), stomach (n=10), lungs (n=5), and other sites (soft-tissues n=3; adrenal gland, tonsils, parotid gland, and urinary bladder n=1, respectively). MRI sequences included an axial 2-point Dixon T1 VIBE SPAIR 3D sequence for PET attenuation correction; a coronal T2 HASTE sequence; and an axial echo-planar imaging SPAIR-based diffusion-weighted sequence (DWI) obtained during free-breathing (b-values, 50 and 800), with corresponding ADC (apparent diffusion coefficient) maps.Results: In 33/36 patients, there were MALT lymphomas with an increased uptake of [68Ga]Ga-Pentixafor; all current lymphoma manifestations showed an increased uptake and, accordingly, were positive on the PET/MRI. The remaining three patients had undergone surgery for their orbital MALT lymphomas prior to PET/MRI. Mean SUVmax was 8.6 ± 4.7, mean SUVmean was 4.7 ± 1.8, and mean SUVpeak was 8.0 ± 4.2. The mean SUVmax of the liver was 1.8, and the mean tumor-to-liver ratio was 2.9 ± 2.0. There were no significant differences in SUVmax (P=0.22), SUVmean (P=0.53), SUVpeak (P=0.29), or SUVt/l (P=0.92) between the four anatomic regions (orbit, stomach, lungs, other). The mean tumor volume was 146 ± 499.Conclusions: Our results thus indicate that [68Ga]Ga-Pentixafor-PET is feasible for the assessment of MALT lymphomas, with a good tumor-to-background ratio in terms of radiotracer uptake.

Clinical features of malignant orbital lymphoma

The occurrence of malignant lymphoma (ML) among patients with malignant orbital tumors ranges between 10 and 37.3% making early diagnosis clarification crucial for timely treatment. To study clinical features of ML with consideration of its morphological type and localization in the orbit. Clinical picture of primary malignant orbital lymphoma of 34 patients (36 orbits) was examined retrospectively with consideration of the tumor's morphotype. Median observation time was 6 years. Patients aged between 34 and 84 years, female to male ratio was 1.27:1. The final diagnoses were: small cell MALT-type ML (23 patients), large cell B-lymphoma (5 patients), diffuse malignant lymphoma (5 patients), T-cell lymphoma (1 female patient). Systemic changes developed in 29.41% of cases after 6.7 years on average. 23.53% of patients has died. Clinical signs of MALT-type ML were described with consideration of tumor's localization in the orbit, and clinical features of B-cell, large cell, diffuse and T-cell lymphoma were shown. Signs helping differentiate ML from false tumor, composite tear gland tumor and malignant orbital tumor were established. Despite the higher prevalence of malignant MALT-type lymphoma, primary malignant orbital lymphoma is characterized by unfavorable vital prognosis: in a third of all cases, signs of systemic lesion develop in 6.7 years on average. Clinical picture of MALT-type ML is defined by tumor's localization in the orbit. Recurrence of MALT-type ML after combined treatment (surgical, radiotherapy, polychemotherapy) happens in every fourth case among patients with tumor primarily localized in the orbital cellular tissues or in the tear gland. Describing clinical features of primary malignant orbital lymphoma allows faster diagnosis clarification reducing the number of orbital diseases that require differential diagnositcs.

Increase in incidence of lymphoma or co-incidence

Aim: To study the incidence of Orbital Lymphomas among the orbital Neoplasia. Materials and Methods: This is a Prospective interventional study conducted at the department of Oculoplasty and Orbital diseases of Sarojini devi eye hospital. The study period was from January 2005 to December 2008. All cases of Orbital Lymphomas on clinical and radiological suspicion were included in the study. Informed consent was obtained from all cases. Patients who didn’t give consent were excluded from the study. All cases were examined by an experienced Ophthalmologist using Slit lamp, Snellens chart, Direct and indirect Ophthalmoscope, Hertel’s Exophthalmometer. Incisional biopsy done in all cases and Histopathological diagnosis was established. Immuno histochemistry was done to further narrow down the diagnosis. Cases were referred to medical oncologist for chemotherapy. Results: Of 609 cases of Orbital neoplasia presented during the study period, 185 were of Orbital Lymphomas. 136 were males and 49 were females. Age distribution was from 40 years to 80 years. Maximum number of cases were seen in 6th and 7th decade. Among the four risk factors, the most common noted in this study was exposure to pesticides. Conclusions: There is steady rise in the incidence of Lymphomas. Exposure to pesticides was most common risk factors for development of Lymphomas. Next common risk factor was exposure ammonia based hair dyes and colors. Third common risk factors was immuno compromised status ie HIV positive. Immuno suppression organ transplant cases or chronic diseases like Rheumatoid arthritis and Sarcoidosis was the least common risk factor in our study.

Upregulation of valosin-containing protein (VCP) is associated with poor prognosis and promotes tumor progression of orbital B-cell lymphoma.

ObjectiveThis study aimed to investigate the relationship between VCP expression and the prognosis of orbital B-cell lymphoma patients and the influence of downregulation of VCP on the apoptosis and invasion abilities of lymphoma cells.MethodsWe recruited 66 orbital B-cell lymphoma patients. VCP expression in 66 samples of orbital B-cell lymphoma was determined by immunohistochemistry using monoclonal VCP antibodies. Based on VCP-expression levels detected by immunohistochemistry, we chose ten cases of orbital tumor paraffin tissue from the patients. Total RNA was extracted and differences in VCP gene-expression levels compared among patients using quantitative reverse-transcription (qRT) PCR. We used siRNA to knock down VCP in the lymphoma cell lines Raji and SUDHL4. qRT-PCR and Western blot were applied to detect VCP mRNA and protein expression, respectively. SUDHL48 assays were applied to investigate cell proliferation. Hoechst 33258 staining and flow-cytometry analysis were applied to investigate cell apoptosis. Transwell assays were applied to investigate invasive ability. Survival analysis was used to evaluate prognostic values.ResultsExpression levels of VCP were correlated with the stage, tumor grade, and recurrence rate of patients. VCP mRNA-expression levels were consistent with VCP-expression levels in orbital B-cell lymphoma tissue. Moreover, survival analysis revealed that lower VCP-expression levels were correlated with longer overall survival of orbital B-cell lymphoma patients. Down-regulation of VCP with siRNA did not inhibit cell proliferation. However, it dramatically increased apoptosis and suppressed the invasion of B-cell lymphoma cells.ConclusionVCP expression played an important role in the progression of orbital B-cell lymphoma. VCP could be a useful marker for predicting the prognosis of orbital B-cell lymphoma patients. VCP may be a potential therapeutic target for orbital B-cell lymphoma.

Orbital precursor B‑lymphoblastic lymphoma involving the extraocular muscles in a 56‑year‑old male and a review of the literature

The aim of the present study was to describe a rare case of orbital precursor B-lymphoblastic lymphoma (B-LBL) in an adult. A 56-year-old male in complete remission of a gastric precursor B-LBL was referred to our orbital clinic due to rapid development of left-sided painless periorbital swelling, diplopia, and proptosis. Complete ophthalmoplegia was observed. Notably, magnetic resonance imaging showed swelling of the medial and inferior rectus muscles in the left orbit and biopsies were performed. Following histological diagnosis of precursor B-LBL, the patient was treated with radiotherapy (2Gy × 20) and chemotherapy according to the NOPHO ALL 2008 protocol. The disease progressed and the patient succumbed after 5 months. Histomorphologically, a lymphoblastic infiltrate was observed within the skeletal muscle tissue. The tumor cells were small and immature, and stained strongly for cluster of differentiating (CD)10, CD79a, paired box 5 and B cell lymphoma-2. The Ki-67 proliferative index was 90%. Multiplex ligation-dependent probe amplification and array comparative genomic hybridization detected whole chromosomal gain of X and 12, and both hemizygous and homozygous deletion on 9p comprising cyclin dependent kinase inhibitor 2A/B. Furthermore, array comparative genomic hybridization detected copy number imbalances consisting of focal or smaller deletions on chromosomes 1, 9, 10, 11 and 20. The final diagnosis was precursor B-LBL relapse in the extraocular muscles. Orbital precursor B-LBL is extremely rare in adults, and the diagnosis may be challenging to make. It is recommended to obtain material for cytogenetic and molecular analyses.

Orbital Lymphoma—An International Multicenter Retrospective Study

To investigate and characterize the clinical features of subtype-specific orbital lymphoma. Retrospective, interventional case series. The study included 7 international eye cancer centers. Patient data were collected from January 1, 1980 through December 31, 2017. A total of 797 patients with a histologically verified orbital lymphoma were included. The primary endpoints were overall survival, disease-specific survival, and progression-free survival. The median age was 64 years, and 51% of patients (n= 407) were male. The majority of lymphomas were of B-cell origin (98%, n= 779). Extranodal marginal zone B-cell lymphoma (EMZL) was the most frequent subtype (57%, n= 452), followed by diffuse large B-cell lymphoma (DLBCL) (15%, n= 118), follicular lymphoma (FL) (11%, n= 91), and mantle cell lymphoma (MCL) (8%, n= 66). Localized Ann Arbor stage IE EMZL and FL were frequently treated with external beam radiation therapy. DLBCL, MCL, and disseminated EMZL and FL were primarily treated with chemotherapy. EMZL and FL patients had a markedly better prognosis (10-year disease-specific survival of 92% and 71%, respectively) than DLBCL and MCL patients (10-year disease-specific survival of 41% and 32%, respectively). Four lymphoma subtypes were primarily found in patients with orbital lymphoma: EMZL, DLBCL, FL, and MCL. The histologic subtype was found to be the main predictor for outcome, with EMZL and FL patients having a markedly better prognosis than DLBCL and MCL.

Primary lacrimal sac diffuse large B-cell lymphoma in a child

We report the case of a 13-year-old boy who presented with a 2-month history of left eyelid swelling, ecchymosis, and epiphora. Magnetic resonance imaging revealed a lobulated lesion in the region of the left lacrimal sac extending to the left nasolacrimal duct. Biopsy revealed diffuse large B-cell lymphoma of the lacrimal sac. Chemotherapy was initiated, consisting of rituximab, methotrexate, cytarabine, doxorubicin, cyclophosphamide, and vincristine. The lesion resolved within weeks of treatment, and the patient remained disease free at 1year. Primary orbital lymphoma is rare in children; primary diffuse large B-cell lymphoma of the lacrimal sac in a child has not been reported previously.

One case of bilateral orbital mucosa-associated tissue lymphoma

One case of bilateral orbital mucosa-associated tissue lymphoma

This issue of Acta Sept 2018

The cover illustration shows a macular haemorrhage, as described by Schargus from Dusseldorf in the electronic part of this issue. Vaes et al in the Netherlands and Belgium point to microvascular changes in retina of patients with chronic obstructive pulmonary disease. Ramdas in Maastricht reviews the literature on dietary influences in glaucoma. Iron and selenium may increase risk, and leafy vegetables decrease risk of glaucoma. However, the data are limited. Bengtsson et al and Lindén et al in Sweden describe the ongoing GLAUCOMA INTENSIVE TREATMENT STUDY and show that intensive treatment lowers IOP more than monotherapy. The study will determine the effect of intensive glaucoma therapy on visual field progression and predict vision loss at life's end. Willekens et al in Belgium and Portugal found that some glaucoma patients have posterior vitreous detachment at an older age than healthy controls. Farhoudi et al in Sweden demonstrate that patients benefit from new spectacle following cataract surgery. Stolk-Vos et al in the Netherlands emphasize the advantage of recording patient-reported visual function and recommend the Catquest-9SF questionnaire. Grimfors et al in Sweden use the Swedish National Cataract Register to demonstrate a correlation between patient-reported improvement and visual function on the one hand and surgical complications, comorbidities, age, gender and visual acuity on the other. Næser et al in Denmark and Italy show that corneal astigmatism is stable until age 50 and changes by 0.25 dioptres every 10 years thereafter. Frimmel et al in the Netherlands and Switzerland report significant eye trauma from fireworks on new Year′s Eve. Sahraravand et al in Helsinki found falls at home to cause most eye injuries in elderly Finns. Bro and Lindblom in Sweden point out that visual requirement for driving are variable in Nordic countries. Mourits et al in the Netherlands looked at cosmetic outcomes following enucleation or radiation for retinoblastoma. Orbital implant complications were manageable, whereas external beam radiation gave less favourable cosmetic outcomes. Scheerlink et al in the Netherlands found better foveal sensitivity on microperimetry with gas compared with silicone oil tamponade for retinal detachment. Leinonen et al in Helsinki used intravitreal steroid implants to treat uveitis-related macular oedema. Pérez-Trullén et al in Spain propose that Goya had age-related cataract and this influenced his late paintings. The following articles are published electronically and are accessible on www.actaophthalmologica.com, as are all articles in Acta for the last century. Leal et al in Portugal and UK conclude that intravitreal injection of anti-TNF antibodies is a possible but not proven treatment for noninfectious uveitis. Zhu et al in China provide a comprehensive review on exercise and glaucoma, including the possible effect on IOP, blood flow and neuroprotection. Kang et al in United States and Australia found that total flavonoid intake does not influence glaucoma risk. Mataki et al in Japan correlated beta peripapillary atrophy with age, lower IOP and disc-fovea distance. Rabensteiner et al in Austria found Meibomian gland dysfunction to play a major role in dry eye, often in combination with reduces aqueous tear secretion. Klingensteiner et al in Munchen recommend PET scanning for orbital adnexal lymphomas. Liu et al in China influence angiotensin pathways in retina with microRNA. This affects proliferation and apoptosis in retinal endothelial cells in diabetic rats. Rose et al in Canada and Australia measure changes in retinal perfusion and oxygen metabolism in radiation retinopathy. Hanhart et al in Israel suggest that bevacizumab intravitreal injections may increase mortality in patients who have recently suffered TIA or stroke. Blixt et al in Denmark and Sweden found that endothelin-1 induced vasoconstriction in retina can be suppressed and this may offer treatment possibilities in retinal ischaemia. Subhi and Sörensen in Denmark view pigment epithelial detachment in 3D and measure volume. They suggest that such analysis may be superior to current practice. Shargus in Dusseldorf supplied the cover illustration of a picturesque retinal haemorrhage. Ferreira et al in Portugal used infrared pupillometry to demonstrate transient pupil changes following laser iridotomy. Diederen et al in the Netherlands recommend Baerveldt implants in uveitis glaucoma in young patients. Vohra et al in Denmark found vision loss in a patient with cerebral amyloid angiopathy. Grzybowski and Nowak in Poland found similar rate of myopia in Polish children as in other Caucasian cohorts. Schrader et al in Germany present a plastic compressed collagen device, which they transplanted onto the corneal surface of a patient with corneal ulcer. Krohn et al in Norway describe a slowly progressive RPE dysgenesis with severe visual loss. I hope this issue of Acta provides pleasant and informative reading in the cool and dark evenings ahead.

Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.

A family with an aggregation of rare early onset multiple primary tumors has been managed in our oncogenetics department: the proband developed four early onset carcinomas between ages 31 and 33 years, including acral melanoma, bilateral clear cell renal carcinoma (RC), and follicular variant of papillary thyroid carcinoma. The proband’s parent developed orbital lymphoma and small intestine mucosa-associated lymphoid tissue (MALT) lymphoma between 40 and 50 years old. Whole-exome-sequencing (WES) of the nuclear family (proband, parents, and sibling) identified in the proband a de novo deleterious heterozygous mutation c.1003C > T (p.Arg335∗) in the phosphatase and tensin homolog (PTEN) gene. Furthermore, WES allowed analysis of the nuclear family’s genetic background, and identified deleterious variants in two candidate modifier genes: CEACAM1 and MIB2. CEACAM1, a tumor suppressor gene, presents loss of expression in clear cell RC and is involved in proliferation of B cells. It could explain in part the phenotype of proband’s parent and the occurrence of clear cell RC in the proband. Deleterious mutations in the MIB2 gene are associated with melanoma invasion, and could explain the occurrence of melanoma in the proband. Cowden syndrome is a hereditary autosomal dominant disorder associated with increased risk of muco-cutaneous features, hamartomatous tumors, and cancer. This atypical presentation, including absence of muco-cutaneous lesions, four primary early onset tumors and bilateral clear cell RC, has not been described before. This encourages including the PTEN gene in panel testing in the context of early onset RC, whatever the histological subtype. Further studies are required to determine the implication of CEACAM1 and MIB2 in the severity of Cowden syndrome in our proband and occurrence of early onset MALT lymphoma in a parent.

Combined positron emission tomography/computed tomography for diagnosis and monitoring of orbital adnexal lymphoma.

Combined whole-body F-18-fluoro-2-deoxyglucose positron emission tomography / computed tomography ([18F]FDG-PET/CT) gives precise information about tumour morphology and metabolism. The standardized uptake value (SUV) allows quantification of tumour metabolism. The diagnostic value of PET/CT in patients with suspected orbital adnexal lymphoma (OAL) was evaluated. Of 21 patients with suspected OAL who underwent combined whole-body PET/CT between 07/2002 and 11/2016, 16 were scanned before and five after orbital biopsy. Histological tumour determination was performed in all cases via biopsy. Correlation between SUVmax and therapeutic status, lymphoma stage (Ann Arbor classification) and histological grading was tested. All lesions could be depicted by combined whole-body PET/CT. Histology confirmed two malignant T-cell and 18 malignant B cell non-Hodgkin lymphomas as well as one patient suffering from systemic lymphoma with chronic polypoid sinusitis. SUVmax levels of orbital findings were significantly lower after therapy (p<0.001; Fisher's exact test). Higher stage lymphomas (Ann Arbor classification) expressed significantly higher SUVmax levels (p=0.014; Fisher's exact test). There was no significant correlation of SUVmax values and histologic grading in this patient collective. Positron emission tomography/computed tomography (PET/CT) depicted vital tumour metabolism of OALs accurately. In cases scanned after orbital biopsy and under systemic therapy, no elevated tumour metabolic activity was expressed. This underlines the reasonable application of PET/CT for therapy monitoring besides whole-body staging. Higher-stage OALs show higher metabolic activity. Yet, for adequate therapy initiation, histology remains indispensable.