BJMO - volume 14, issue 6, october 2020
C-H. Filip , C. Duhem , F. Ries
Paraneoplastic limbic encephalitis (PLE) is a rare autoimmune neurological syndrome, characterised by the development of neuropsychiatric symptoms and associated with cancer in the absence of tumour cell invasion of the nervous system. PLE is often seen in small-cell lung cancer (SCLC), but can also be found in other cancers, such as breast cancer, thymoma, ovarian teratoma and Hodgkin lymphoma. The course of most PLEs is subacute and symptoms occur before the detection of tumour. The diagnosis of PLE is still mainly based on clinical manifestations and antibody tests, rather than imaging. The identification of specific circulating autoantibodies in patients has revolutionised the diagnosis of PLE and demonstrated immune system involvement.1,2 We present the case of a 62-year old female patient, with history of left sided breast cancer, who presented in 2018 with fatigue, hallucinations, confusion, sleep disorders and anterograde amnesia. Further workup included brain magnetic resonance imaging (MRI) which suggested a diagnosis for limbic encephalitis. Serum and cerebrospinal fluid (CSF) Anti-Hu, anti-Sox1 and anti-Zic4 antibodies were positive. A positron emission tomography – computed tomography (PET-CT) scan revealed two mediastinal lymph nodes and the biopsy of one of them was positive for a small cell carcinoma. In conclusion, paraneoplastic limbic encephalitis occurs at an early stage of the disease development and its detection can therefore lead to an earlier identification of the underlying malignancy and subsequently to a better outcome.
(BELG J MED ONCOL 2020;14(6):293-6)Read more
BJMO - volume 14, issue 4, june 2020
H. Houssiau MD, L. Duck MD, N. Whenham MD, R. Poncin MD, S. Carlier MD, V. Haufroid PharmD, PhD
We discuss a life-threatening case of capecitabine toxicity due to the presence of a heterozygous variant on exon 14 (c.1905+1G>A, rs3918290) of the dihydropyrimidine dehydrogenase gene (DPYD). We advocate the need for dihydropyrimidine dehydrogenase deficit screening, which could become mandatory in Belgium, as in France, before any fluoropyrimidine administration to avoid cases of foreseeable toxicity.
(BELG J MED ONCOL 2020;14(4):151–4)Read more
BJMO - volume 14, issue 3, may 2020
A. Goossens MD, J. Decloedt MD, M. Vandewalle MD, R. de Putter MD, PhD, W. Lybaert MD, PhD, Y. Dockx MD
The Li-Fraumeni syndrome (LFS) is characterised clinically by the appearance of tumours in multiple organs, generally at an early age. This hereditary condition is caused by germinal mutations in the TP53 gene, which codifies for the tumour suppressor gene p53.
We present here the case of a patient aged 40 with the diagnosis of LFS who presented with premenopausal breast cancer. She had a positive family history of cancer. As a consequence, she was referred to genetic counselling. Genetic analysis revealed a TP53 germline mutation, which is diagnostic for LFS. However, further genetic analysis of different tissues showed a genetic mosaicism in our patient.
Patients with LFS have a high risk for a broad spectrum of tumours. The diagnosis and management of Li-Fraumeni syndrome should be performed by a multidisciplinary team, and genetic counselling should be offered to patients and their relatives. Targeted next-generation sequencing represents an efficient approach for the identification of mutations in families with a heterogeneous phenotype. Theoretically, since mosaics do not have mutations in all of their cells, the cells that do not have mutant p53 are less likely to undergo malignant transformation or have the same risk of everyone else.
(BELG J MED ONCOL 2020;14(3):100–105)Read more
BJMO - volume 14, issue 2, march 2020
G. Vos MD, M. Albersen MD, PhD, Y. Raskin MD
This article describes the case of a 77-year old patient in whom a brownish bleeding glans lesion led to the diagnosis of a stage pT4b ulcerating melanoma of nodular subtype on excision biopsy, with a suspect lymph node in the left inguinal region. There was no evidence of nodal or distant metastatic disease. Punch biopsy confirmed nodal disease on the left side. Consequently, a complete glansectomy combined with an iliacofemoral lymphadenectomy was performed on the left side, as well as a sentinel procedure on the right side. Pathology showed residual melanoma in situ in the glans and one necrotic adenopathy (1/8) in the inguinal lymphadenectomy. For this node positive melanoma, the multidisciplinary team meeting agreed to start with nivolumab. Based on the ‘Melanoma Focus’ ano-uro-genital (AUG) mucosal melanoma guidelines, the current recommendations of practice are highlighted. However, the available evidence on AUG mucosal melanoma, and especially penile mucosal melanoma, is very limited.
(BELG J MED ONCOL 2020;14(2):74–9)Read more
BJMO - volume 13, issue 7, november 2019
A. Coveliers MD, C. Focan MD, PhD, J. Weerts MD, M-P. Graas MD, N. Blétard MD
This oncocase reports the exceptional case of a 65-year-old woman presenting a Demons-Meigs syndrome characterised by dyspnoea issuing from a transsudative pleural effusion together with an important unilateral right ovarian mass and ascites. The diagnosis of a Brenner type histology, a rare and generally benign ovarian affection, was obtained after complete surgical removal of the ovarian tumour. Once discharged, the patient entered in a sustained complete response and thus potential cure.
(BELG J MED ONCOL 2019;13(7):301–4)Read more
BJMO - volume 13, issue 7, november 2019
B. Beuselinck MD, PhD, C. Soenens MD, G. De Meerleer MD, PhD, H. Van Poppel MD, PhD, M. Albersen MD, PhD
Based on a case report of a 47-year old male with primary bone metastatic renal cell carcinoma, the current treatment options are reviewed in this article.
(BELG J MED ONCOL 2019;13(7):305–8)Read more
BJMO - volume 13, issue 6, october 2019
B. Dullens MD, C. Bourgain MD, PhD, W. Ceelen MD, PhD, W. Wynendaele MD, PhD
This article describes two cases of malignant peritoneal mesothelioma (MPM), which highlights the diversity of the disease and the diagnostic pitfalls. The risk factors, symptoms, molecular pathogenesis and the daily clinical relevance are discussed.
(BELG J MED ONCOL 2019;13(6): 251–254)Read more