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Neuroblastic tumors of the adrenal gland in elderly patients: a case report and review of the Literature
Get PDFBackground: Neuroblastic neoplasms (NN) include ganglioneuromas (GN), ganglioneuroblastomas (GNB), and neuroblastomas (NB). They generally arise in childhood from primitive sympathetic ganglion cells. Their incidence in adults, especially among elderly, is extremely low. Case Presentation: This is the case of a 74-year-old woman with history of abdominal pain, weakness and night sweating since several months. Blood pressure was normal. CT-scan showed a 10 cm left adrenal mass, without other pathologic findings. An open left-sided adrenalectomy was performed. Recovery was uneventful with hospital length of stay of 8 days. Based on morphological, immunohistochemical, and molecular features the diagnosis was a nodular GNB. A positron emission tomography (PET) performed 6 weeks after the resection did not show any residual tumor or distant metastases. The patient was followed-up with annual clinical and radiological exams. Conclusion: This case presentation, associated with a review of the literature, illustrates the importance to include NN in the preoperative differential diagnosis of adrenal tumors in adults and highlights the need for multidisciplinary patient work-up and management
Response to Khetan and Maitray’s “Comment: Conservative management of massive choroidal relapse in retinoblastoma patients?”
No full textShorter time to diagnosis and improved stage at presentation in Swiss patients with retinoblastoma treated from 1963 to 2004
No full textRapport de synthèse :
Le rétinoblastome est la tumeur de l'oeil la plus fréquente chez l'enfant. Un diagnostic précoce est important pour sauver le globe oculaire et la survie du patient. Le but de notre étude est de déterminer l'évolution de l'intervalle diagnostique, c'est-à-dire le délai entre les premiers symptômes et la date du diagnostic officiel du rétinoblastome, sur une période de 40 ans en Suisse.
Matériel et méthode :
Il s'agit d'une étude rétrospective faite sur 139 patients suisses traités pour rétinoblastome durant trois différentes périodes : (1) 1963-1983 ; (2) 1984-1993 ; et (3) 1994-2004. On compare certaines caractéristiques : le sexe du patient, la latéralité de la maladie, les premiers symptômes, leurs observateurs, l'intervalle diagnostique, l'âge au diagnostic, le stade de la maladie, l'histoire familiale.
Résultats :
37 patients (26.6%) ont été traités dans la première période ; 44 (31.7%) dans la période 2 et 58 (41.7%) dans la période 3. L'intervalle diagnostique diminue de façon significative de 6.97 mois dans la période 1 à 3.58 dans la période 2 à 2.25 dans la période 3 pour le total des malades. Ceci reste significatif pour les rétinoblastomes unilatéraux. De plus, dans ce même groupe, on observe une diminution significative des stades avancés de la maladie, groupe E selon Murphree (61.5% dans la période 1 ; 46.7% dans la période 2 et 22.2 % dans la période 3).
Lorsque la maladie est bilatérale, les mêmes observations se font de façon un peu moins marquée.
Il n'y a aucun patient diagnostiqué au stade E de la maladie en présence d'une anamnèse familiale positive. Leucocorie (48.2%) et strabisme (20.1 %) sont les symptômes les plus fréquents durant les 3 périodes. Les seuls facteurs qui influencent significativement le risque d'avoir un stade E de la maladie sont la durée de l'intervalle diagnostic et la période de diagnostic.
Conclusion :
On constate un progrès dans le diagnostic du rétinoblastome en Suisse, surtout lors de maladie unilatérale. De même, des améliorations sont notées dans la maladie bilatérale mais de façon non significative. Il est donc important de mieux enseigner aux médecins à reconnaître les symptômes oculaires de la maladie et à référer les patients plus tôt aux spécialistes.
Abstract :
OBECTIVES : Retinoblastoma is the most frequent intraocular malignancy in children. Early diagnosis is essential for globe salvage and patient survival. The aim of our study was to determine how time to diagnosis of retinoblastoma has evolved over a 40-year period in Switzerland.
METHOD AND PATIENTS : A retrospective study of 139 Swiss patients with retinoblastoma was performed comparing 3 periods: (1) 1963-1983; (2) 1984-1993; and (3) 1994-2004. Factors taken into account were gender, laterality of retínoblastoma, age at first symptoms, type and first observer of symptoms, time to diagnosis, age at diagnosis, disease stage, and family history.
RESULTS : Thirty-seven patients (26.6%) were treated in period 1, 44 (31.7%) in period 2, and S8 (41.7%) in period 3.Overall, the diagnostic interval decreased in a significant way from 6.97 months in period 1 to 3.58 in period 2 and to 2.25 in period 3. When looking separately at unilateral and bilateral disease, the decrease oí the diagnostic interval remained statistically significant in unilateral retinoblastoma; there was also a significant reduction in the number of patients with advanced group E disease (Murphree classification) (61.5% in period 1, 46.7% in period 2, 22.2% in period 3). In bilateral disease, the same observations were made to a lesser extent. However, there were no cases with group E disease in 10 patients with positive family history. Leukornria (48.2%) and strabismus (20.1 %) were the 2 most frequent symptoms throughout the 3 periods. The only factors that statistically influenced the chances of having a diagnosis of group E disease were the diagnostic interval and period of diagnosis.
Conclusion : Progress has been made in the diagnosis of retinoblastoma in Switzerland, notably in unilateral disease. Improvement to a lesser extent has also been observed in bilateral cases but without statistical significance. Greater effort is needed to teach physians-in-training to recognize the importance of ocular symptoms and refer patients earlier
Impact des séquelles sur le retour scolaire chez les enfants guéris de tumeurs cérébrales de haut grade
No full textLes tumeurs du système nerveux central (SNC) chez les enfants de moins de 15 ans
représentent, après les leucémies (33.3%), le deuxième cancer le plus fréquent, avec 1 sur 5
diagnostics de cancer pédiatrique et une incidence de 3.5 par 100'000 enfants en Suisse et
aux États-Unis (1,2). La probabilité de survie à 5 ans post diagnostic a passé de 62% à 74 % en
30 ans grâce aux progrès dans le processus de diagnostic, traitement et prise en charge des
patients. Les tumeurs cérébrales restent cependant le cancer le plus mortel (2). Même si 3
sur 4 enfants survivront au moins 5 ans (toutes tumeurs du cerveau confondues), équivalent
de guérison pour la plupart, les effets secondaires liés aux tumeurs et leur traitement peuvent
durer toute une vie. Le nombre croissant d’enfants guéris est accompagné d’une
augmentation d’effets causés par le traitement, que ce soit à court ou plus long terme,
apparaissant parfois seulement à l’âge adulte.
Les tumeurs de haut grade (grade III et IV selon la classification WHO (World Health
Organisation)) sont caractérisées par des cellules d’allure atypique au microscope, leur
capacité à se reproduire activement et à envahir les tissus environnants ce qui les rend plus
agressives que les tumeurs de bas grade. Elles comprennent les médulloblastomes, certains
épendymomes et certains astrocytomes (gliomes de haut grade) (3). La survie à 5 ans varie
entre 5 et 85% selon le degré de malignité et les possibilités thérapeutiques (2, 3).
Le traitement des tumeurs cérébrales dépend du type histologique de la tumeur, de la
localisation, de l’étendue de la lésion, de l’âge et de l’état général du patient. Il s’agit souvent
d’une combinaison de plusieurs méthodes de traitements tels que la chirurgie,
chimiothérapie et/ou radiothérapie (RT). Chacune des thérapies citées ci-dessus a la
possibilité d’engendrer des effets secondaires affectant la qualité de vie des patients guéris.
Ce sont principalement les effets secondaires de la RT (4) ou de certaines chimiothérapies,
telles que les agents alkylants, qui représentent le risque principal à long terme (5)
No role for CSF myelin basic protein levels in patients treated for childhood acute lymphoblastic leukemia
No full textRESUME
Introduction :
La prophylaxie du système nerveux central lors d'un diagnostic de leucémie lymphoblastique aiguë de l'enfant a permis de réduire le risque de rechute mais a été associée dans certains cas à des neurotoxicités cliniques ou des anomalies radiologiques. Des moyens de prédire ces neurotoxicités font défaut, en particulier en raison de l'absence de corrélation claire entre les signes cliniques et les images radiologiques. Quelques auteurs ont suggéré que les taux de protéine basique de la myéline (MBP) mesurés dans le liquide céphalo-rachidien pouvaient avoir un intérêt dans ce contexte. Uné étude rétrospective de ces taux en relation avec des données cliniques et radiologiques est présentée dans ce travail.
Matériel et Méthodes :
Les taux de MBP mesurés dans le liquide céphalo-rachidien lors d'administration de chimiothérapie intrathécale, les examens cliniques neurologiques et les rapports radiologiques ont été rétrospectivement étudiés chez nos patients. Les données concernant des difficultés académiques éventuelles, ainsi que le niveau académique atteint ont été récoltées par l'intermédiaire de contacts téléphoniques réguliers organisés dans le cadre du suivi à long terme de nos patients.
Résultats :
Un total de 1248 dosages de MBP chez 83 patients, 381 examens neurologiques chez 34 patients et 69 rapports d'investigations neuroradiologiques chez 27 patients ont été analysés. Cinquante-deux patients ont eut au moins un taux anormal de MBP. Des anomalies radiologiques ont été décrites chez 47% de ces patients, parmi lesquels 14% ont présenté des difficultés scolaires sous une forme ou sous une autre. La proportion de patients ayant présenté des difficultés scolaires dans les groupes avec taux de MBP normal mais sans anomalies radiologiques décrites ou sans investigations radiologiques étaient respectivement de 0% et 3%, inférieurs dans tous les cas au groupe avec des taux normaux de MBP (100%, 22% and 5% respectivement).
Discussion :
Tout en prenant en compte les limitations dues à l'aspect rétrospectif de cette étude, nous avons conclu à une utilité limitée de ces dosages systématiques comme indicateur d'une neurotoxicité induite parle traitement dans le contexte de nos patients oncologiques.
ABSTRACT
Introduction :
Central nervous system (CSF) prophylaxis of childhood acute lymphoblastic leukemia has dropped rates of relapses but has been associated wíth neurotoxicity and imaging abnormalities. Predictors of neurotoxícity are lacking, because of inconsistency between clinical symptoms and imaging. Some have suggested CSF Myelin Basic Protein (MBP) levels to be of potential interest. A retrospective analysis of MBP levels in correlation with clinical and radiological data is presented.
Materials and Methods :
MBP levels obtained at the time of intrathecals, charts, and neuroradiology reports were retrospectively analyzed. Academic achievement data were obtained from phone contacts with patients and families.
Results :
We retrieved 1248 dosages of MBP in 83 patients, 381 neurological exams in 34 patients and 69 neuroradiological investigations in 27 patients. Fifty-two patients had abnormal MBP levels. Radiological anomalies were present in 47% of those investigated, 14% of them having school difficulties. Proportions of patients with school difficulties in the groups with abnormal MBP levels but no radiological anomalies or with no radiological investigations were 0% and 3% respectively, which was lower than in the group of patients with normal MBP levels (100%, 22% and 5% respectively).
Discussion :
Notwithstanding the retrospective character of our study, we conclude that there is limited usefulness of systematic dosage of MBP as indicator of treatment-induced neurotoxicity in ALL patients
Impact of therapy on quality of life in patiens treated for retinoblastoma
No full textBackground
Retinoblastoma accounts for 2-4% of childhood cancers and is the most common malignant
ocular tumour in childhood. Current treatment modalities allow, in developed countries, a 95%
survival rate at 5 years. This is achieved by a combination of local treatments, systemic
chemotherapy with focal treatments (CT), external beam radiotherapy (EBR) and/or
enucleation. While enucleation causes mainly aesthetic sequelae, EBR increases the risk of
secondary radiation induced tumours. This explains why efforts have been made to develop
new, more conservative treatment techniques. Since a few years, intraarterial administration
of chemotherapy (IAC), and intra-vitreous administration of chemotherapy (IVC), are used as
new conservative treatments with the aim of avoiding enucleation and/or EBR.
Limited data is available regarding the impact of these treatments on the health status of
survivors and especially on their health-related quality of life (HRQoL).
Objective
To assess HRQoL in children and adolescents who survived retinoblastoma and compare the
results between four different treatment modalities: enucleation, EBR, CT and IAC/IVC.
Patients and methods
This is a population-based cross-sectional study. Questionnaires were sent out to all
retinoblastoma survivors who were entirely treated at our centre and who had a minimal followup
of 3 years since end of treatment. The HRQoL was assessed using the KIDSCREEN-52
self-reported and parent proxy version and the total score and the scores of each dimension
were compared between the four different treatment modalities.
Results
Our results showed that the perceived global HRQoL of retinoblastoma survivors was very
good with a total score and each dimension scores over 4 on a scale of 1 to 5. With regards to
the total quality of life score, retinoblastoma survivors who received primary CT (ref group)
scored significantly higher than the other groups. Those who were enucleated scored lower (β
(p-value) = -2,21 (0,04), followed by those who received IAC/IVC (-2,61 (0,02)) and the group
that was treated with EBR (-2,96 (0,03). The CT group reported also better HRQoL on the
school environment dimension. They scored significantly higher compared to those who were
enucleated in the dimension of psychological well-being, and scored higher than the EBR
group in the dimension of self- perception and autonomy. The groups did not differ in physical,
moods and emotions, parent relations, social support and social acceptance domains. Factors
associated with a lower score were: the older age of the patient at study time, older age at first
examination at HOP and HJG, self-reported questionnaires and unilaterality.
Conclusion and perspectives
Our results show that the perceived HRQoL by retinoblastoma survivors was globally good
and that the HRQoL differed according to the treatment received. Patients treated with EBR
have, as expected, the worst HRQoL. To our surprise, systemic chemotherapy, although
related to more general side effects, scored best in almost all domains, even when compared
to the newer local chemotherapies (IAC/IVC).
In order to confirm these data, patients who were not yet available will be included and sociodemographic
factors such as parents’ education, migration background and country of
residence, added since they could also affect the HRQoL
Methotrexate-induced central nervous system toxicity in children treated for acute lymphoblastic leukemia: analysis of seven consecutive cases
No full textMethotrexate (MTX), a folate analogue, is widely used in the treatment of patients with autoimmune disease or certain types of cancer such as acute lymphoblastic leukaemia (ALL), lymphoma and osteosarcoma. Depending on disease type, MTX can be administered intravenously (iv), by intrathecal (it) injection or as a high dose (HD) perfusion. One of the major MTX toxicities is neurotoxicity that can be classified in three groups depending on the timing: acute, subacute and late neurotoxicity. In acute neurotoxicity, symptoms like seizures, confusion, somnolence and chemical arachnoïditis with headache, nausea, vomiting and fever arise within hours of MTX administration. In the subacute form, stroke-like symptoms like hemiparesis, ataxia, speech disorder, or myelopathy like sensory changes, leg pain and paraplegia can appear after days or weeks of MTX administration. The recovery is often spontaneous after 48 to 72h (1). Finally, patients can develop a chronic form of neurotoxicity after months or years, characterized by learning disabilities, neurocognitive impairment and other leukoencephalopathic symptoms such as quadriparesia, dementia, coma, even death (2)
Cytogenetic characterisation of childhood acute lymphoblastic leukemia in Nicaragua
No full textBACKGROUND:
Within the frame of a twinning programme with Nicaragua, The La Mascota project, we evaluated in our study the contribution of cytogenetic characterization of acute lymphoblastic leukemia (ALL) as prognostic factor compared to clinical, morphological, and immunohistochemical parameters.
METHODS:
All patients with ALL treated at the only cancer pediatric hospital in Nicaragua during 2006 were studied prospectively. Diagnostic immunophenotyping was performed locally and bone marrow or blood samples were sent to the cytogenetic laboratory of Zurich for fluorescence in situ hybridization (FISH) analysis and G-banding.
RESULTS:
Sixty-six patients with ALL were evaluated. Their mean age at diagnosis was 7.3 years, 31.8% were >or=10 years. Thirty-four patients (51.5%) presented with hyperleucocytosis >or=50 x 10(9)/L, 45 (68.2%) had hepatosplenomegaly. Immunophenotypically 63/66 patients (95%) had a B-precursor, 2 (3%) a T- and 1 (1.5%) a B-mature ALL. FISH analysis demonstrated a TEL/AML1 fusion in 9/66 (14%), BCR/ABL fusion in 1 (1.5%), MLL rearrangement in 2 (3.1%), iAMP21 in 2 (3.1%), MYC rearrangement in 1 (1.5%), and high-hyperdiploidy in 16 (24%). All patients but two with TEL/AML1 fusion and high-hyperdiploidy were clinically and hematologically in the standard risk group whereas those with poor cytogenetic factors had clinical high-risk features and were treated intensively. CONCLUSIONS: Compared to Europe, the ALL population in Nicaragua is older, has a higher proportion of poor prognostic clinical and hematological features and receives more intensive treatment, while patients with TEL/AML1 translocations and high-hyperdiploidy are clinically in the standard risk group. Cytogenetics did not contribute as an additional prognostic factor in this setting
Cyst s of pineal gland in retinoblastoma: what link with disease and treatments ?
No full textOBJECTIVES. Retinoblastoma (Rb) represents the most frequent intraocular paediatric tumor, with an average incidence of 1:14'000 to 1:34'000 births. In 2006 we were first to report on pineal cysts that appeared to be more common in children with hereditary bilateral Rb. The aim of our study was to review in a larger patient cohort the occurrence of pineal cysts and to study the link with disease characteristics and treatments received.
METHODS AND PATIENTS. Observational retrospective study of clinical and radiological data of 103 patients treated for Rb who had undergone a cerebral magnetic resonance imaging (MRI) between 2006 and 2013 and had a follow-up. Clinical records were reviewed for sex, age at diagnosis, hereditary pattern of disease, tumor laterality, stage according to the International Classification of Retinoblastoma, age at first MRI, treatments received, date of first and last treatment and last follow-up, response to treatment, long-term outcome, time interval from diagnosis of Rb to the diagnosis of a pineal cyst, and genetic data if known. Radiological reports and brain images were reviewed for each patient with pineal cyst to record its size and change over time.
RESULTS. Of 103 patients with Rb 56 had unilateral and 47 bilateral disease. Ninety-five were sporadic Rb while 8 were familial. Forty-nine MRIs out of 103 (47.6%) presented a pineal cyst and were reviewed by a neuroradiologist to verify aspect and the size of the pineal gland. Occurrence of cysts was more frequent in bilateral disease, sporadic disease, in presence of a documented genetic mutation and in group D or E, but without statistically significance. No impact of treatment on the occurrence of cysts could be demonstrated. At 1 year of follow-up, cysts had higher growth in bilateral Rb and those with documented genetic mutation, but without statistical significance. None of the other parameters showed significant impact on growth.
CONCLUSIONS. We found a high incidence of pineal cysts in Rb patients, but could not demonstrate a significant relationship to the hereditary subgroup or genetic mutation. The evolution was benign without malignant transformation in absence of atypical radiological signs. The higher incidence however compared to a healthy paediatric population clearly indicates that pineal cysts are part of the disease-related midline brain abnormalities
Malignant glioma after ependymoma: an unusual secondary malignancy
No full textPurpose : Secondary malignancies (SM) are a known long-‐term problem in children surviving brain tumors. We report on two unusual cases of SM observed after treatment of ependymoma. Case reports : 1. The first case is a female survivor of a low-‐grade ependymoma (Grade II). She had been treated at the age of 3 months with surgery and chemotherapy. A relapse of the primary tumor happened two years later, which was completely removed and treated with local radiotherapy to the posterior fossa. Fifteen years after the first cancer, she developed a pontine glioma near the location of the previous radiotherapy. 2. The second case is a femal survivor of an ependymoma (Grade III) which was removed and irradiated when she was 4 years old. The child developed a pontine glioma near the location of the previous radiotherapy ten years after the diagnosis of the first cancer. Further extension of the disease showed after biopsy PNET-‐ like features. Both patients passed away.
Discussion and Conclusion : Second malignant neoplasia is a rare phenomenon and this risk should not overshadow the great success in treating cancer of childhood. Among the studied risk factors, young age and radiotherapy are well established. The reported patients were followed annually to ensure their remission and both developed symptoms and an unusual unreported secondary cancer a few months after the annual monitoring that was considered as normal. This issue highlights the complexity of monitoring cancer survivors and raises the question of the best way for their long-‐term follow-‐up
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