ONCOCASE

Intensified neoadjuvant chemotherapy with SBRT for a borderline resectable pancreatic cancer: A plea for prospective evaluation

SUMMARY

Pancreatic ductal adenocarcinoma (PDAC) is the fourth leading cause of cancer-related death and its 5-year overall survival is poor. Surgery remains the only curative treatment but less than 20% of the patients are resectable at diagnosis. New treatment options for the management of metastatic disease have recently emerged, and with them the question of their use in preoperative strategy. Neoadjuvant sequence may increase the achievement of R0 resection margins in borderline resectable tumours but also the proportion of patients who will receive chemotherapy. We report a case of borderline resectable PDAC treated with duodenopancreatectomy after neoadjuvant treatment consisting of chemotherapy and SBRT.

(BELG J MED ONCOL 2021;15(2):79-82)

Succinate dehydrogenase B deficient renal cell carcinoma in a young adult with paraganglioma: Management of a rare, hereditary malignancy

SUMMARY

Succinate dehydrogenase deficient renal cell carcinoma (SDH-RCC) is a very rare but distinct renal neo-plasm, most often presenting at a young age and commonly associated with paragangliomas, pheochromocytomas and gastro-intestinal stromal tumours as a hereditary cancer syndrome. Although SDH-RCCs often have a relatively indolent disease course, higher nuclear grade, coagulative necrosis and sarcomatoid dedifferentiation may indicate aggressive disease. Radical surgery and (targeted) radiation therapy are valuable options in the treatment of these rare tumours. Genetic testing for germline SDH mutations is crucial. First-line relatives with germline SDH mutations should undergo periodical screening since early detection is paramount. The strong presence of the Warburg effect in SDH-related tumours make these the hallmark tumour for ¹⁸Fluorodeoxyglucose Positron Emission Tomography based screening and follow-up.

(BELG J MED ONCOL 2021;15(1):44-7)

Tissue is the issue

SUMMARY

Multimodal therapy, including preoperative chemoradiotherapy followed by total mesorectal excision, has become the standard treatment for patients with locoregionally advanced rectal cancer.¹ We report on a 54- year old female patient with rectal adenocarcinoma cT3N0M0, who was treated with neoadjuvant chemo-radiotherapy (capecitabine 825 mg/m² BID 5 days/week + 45 Gy in 25 fractions) followed by total mesorectal excision and adjuvant capecitabine for six months. Eleven weeks after the start of adjuvant capecitabine, she presented with dyspnoea, non-productive cough, shortness of breath, chest wall pain, and decrease of physical activity, for which she was admitted to the Antwerp University Hospital (UZA) in Edegem. Computed tomography (CT) revealed pulmonary emboli, enlarged mediastinal and hilar lymph nodes, and multiple micronodules in both lungs. Radiologic findings were suggestive of metastatic lymph nodules and numerous pulmonary metastases. However, pathological diagnosis showed nude granulomas without necrosis without evidence of tumour. Our case illustrates that sarcoid-like lesions may mimic lung metastases in cancer patients being treated with chemotherapy and that tissue still remains the issue.

(BELG J MED ONCOL 2021;15(1):40-3)

Limbic encephalitis revealing a small-cell anaplastic lung cancer in a 62-year-old woman with history of breast cancer

SUMMARY

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)

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)