ONCOCASE

A case of a life-threatening toxicity following capecitabine treatment: advocacy for dihydropyrimidine dehydrogenase deficiency screening

SUMMARY

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)

Not just a ‘usual’ Li-Fraumeni syndrome

SUMMARY

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)

Penile Mucosal Melanoma: a case report and review of literature

SUMMARY

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)

Demons-Meigs syndrome secondary to an ovarian Brenner tumour: Case report and literature survey

SUMMARY

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)

Case report of a patient treated locally for bone metastatic renal cell carcinoma

SUMMARY

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)

Case report: Seeding metastases after percutaneous vertebroplasty procedure for pathological fracture: a rare complication

SUMMARY

Percutaneous balloon vertebroplasty (PVP) is an effective treatment for pathological vertebral compression fractures in oncological patients. The procedure is considered safe and the analgesic effect is fast and long lasting. Seeding metastases after PVP are a rare complication. At present, there is no standard of care how to prevent or treat this complication. Further research is necessary to determine preventive measures.

(BELG J MED ONCOL 2019;13(6): 255–257)

Difficulties in diagnosis and treatment of a rare malignancy, malignant peritoneal mesothelioma

SUMMARY

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)