ONCOCASE

Breast cancer in a young woman with short stature: Which diagnosis not to miss

BJMO - volume 16, issue 4, june 2022

F. Lockefeer MD, J. Michielsen , J. van den Ende MD, K. Forceville MD, K. Janssens MD, K. Storm MSc, L. Depauw MD, N. Degrieck MD, S. Altintas MD, PhD

SUMMARY

This article presents the case report of a 27-year old woman with a triple-negative ductal adenocarcinoma and distinct physical features, in whom Bloom syndrome was diagnosed. Bloom syndrome, a rare autosomal recessive genetic disorder caused by biallelic mutations in the BLM gene, is associated with a markedly increased risk of developing a variety of cancers at a young age (most commonly leukaemia, lymphomas and gastrointestinal tract tumours). Other clinical manifestations include proportional growth deficiency, microcephaly, a long narrow face, retro/micrognathia, photosensitive erythematous rash, endocrine disorders and fertility problems. The potentially life-threatening consequences of Bloom syndrome make early detection, diagnosis and thorough multidisciplinary follow-up of patients with this disease an essential matter.

(BELG J MED ONCOL 2022;16(4):191–5)

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Mazabraud’s Syndrome in association with other benign soft tissue tumours: A case report

BJMO - volume 16, issue 4, june 2022

A. Van Beeck MD, A. Vandebroek MD, D. Schrijvers MD, PhD, J. Desimpelaere MD, J. Liu MD, P. Pauwels MD, PhD, S. Mignon MD

SUMMARY

Mazabraud’s Syndrome is a rare benign disorder characterised by the association of two hallmark entities: fibrous dysplasia (FD) and intramuscular myxomas (IM). The aetiology of the disease is unclear, but molecular research of FD and IM points in the direction of post-zygotic mutations in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene, which activates a trophic cascade leading to aberrant cellular proliferation. Although the diagnosis of Mazabraud’s Syndrome is rare, showing a prevalence lower than 1/1,000,000, it should be suspected in every patient presenting with FD and IM. These patients should get a bone scintigraphy and a magnetic resonance imaging (MRI) of the affected anatomical area. Other imaging techniques, such as positron emission tomography-computed tomography (PET-CT), may have additional value. Finally, the patients should perform a biopsy of the IM to confirm the diagnosis. The treatment includes bisphosphonates for FD, and surgery is reserved only for severe cases with persistent pain, deformity, fracture, or risk for a pathological fracture. Asymptomatic IM should be treated conservatively, but symptomatic lesions can be surgically excised. Follow-up is useful since malignant transformation of FD and recurrence of IM after excision are reported in the literature.

(BELG J MED ONCOL 2022;16(4):187–90)

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Refractory pyrexia caused by BRAF and MEK inhibitors: Colchicine as salvage

BJMO - volume 16, issue 3, may 2022

A. Hoorens MD, PhD, C. Jacobs MD, I. Hilderson MD, L. Brochez MD, PhD, M. Saerens MD

SUMMARY

Pyrexia is a frequent complication of the treatment with BRAF and MEK inhibitors. Its management includes a full infectious workup, initiation of paracetamol, non-steroidal anti-inflammatory drugs (NSAIDs), dose interruption and steroids. In rare cases, pyrexia is refractory to steroids. Pathogenesis of pyrexia shows similarities with familial Mediterranean fever, a disease that usually responds well to colchicine. This study presents a case of refractory pyrexia due to BRAF and MEK inhibitors in metastatic melanoma, successfully treated with colchicine, which paved the path for a significant treatment response.

(BELG J MED ONCOL 2022;16(3):128–32)

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Adenocarcinoma of the ampulla of Vater with leptomeningeal and colonic metastasis: A case report

BJMO - volume 16, issue 3, may 2022

A. Buttiens MD, A. Eyben MD, H. De Cauwer MD, L. Baisier MD, M. Viaene MD

SUMMARY

Adenocarcinoma of the ampulla of Vater is a biliary tumour arising from the distal biliary epithelium at the ampulla of Vater. It is a relatively rare tumour, accounting for approximately 7% of all periampullary malignancies. Leptomeningeal metastasis, a complication occurring in 5% of all cancer patients, is a feature very seldomly reported in this type of malignancy. The prognosis is very poor, as current treatment options for leptomeningeal metastasis are limited by low efficacy and high toxicity. This study presents the case of a patient with an ampullary adenocarcinoma, who first was treated with surgical resection for localised disease. However, the disease evolved and palliative chemotherapy was started when colonic metastases became evident. Twelve months after diagnosis, leptomeningeal metastases were detected. To our knowledge, only one similar case has been reported previously, slightly different from the type of ampullary carcinoma presented in this study. Leptomeningeal metastasis should always be considered in a patient presenting with neurologic signs and a history of an ampullary malignancy.

(BELG J MED ONCOL 2022;16(3):125–7)

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Capecitabine and folic acid: A lethal combination?

BJMO - volume 16, issue 2, march 2022

B. Van Overberghe MD, D. Naudts MD, H. Prenen MD, PhD, J. Van Boven , K. Forceville MD, L-A. Teuwen MD, M. Peeters MD, PhD, T. Vandamme MD, PhD

SUMMARY

5-Fluorouracil (5-FU) and its prodrug capecitabine are widely used and generally well-tolerated chemotherapeutic agents. Although leucovorin, a derivative of folic acid, is routinely used to potentiate the effect of 5-FU, there seems to be little to no awareness about a similar interplay between capecitabine and folic acid, a commonly used supplement. This study presents a case in which a high concentration of folic acid led to fatal capecitabine-related toxicity, with the aim to raise awareness on the interaction between folic acid supplementation and 5-FU/capecitabine treatment toxicity.

(BELG J MED ONCOL 2022;16(2):74–8)

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Totally implantable venous access device malposition presenting as vague retrosternal pain

BJMO - 2022, issue 1, february 2022

A. Feyaerts MD, P. Hullegie , W. Demey MD

SUMMARY

Complications in totally implantable venous access devices can occur in an early or late stage and can be severe. This case reports an uncommon complication with atypical presentation. A 61-year-old female, treated with mFOLFIRI due to stage IV colorectal cancer, experienced significant thoracic pain, diaphoresis and dyspnoea after administration of the 5FU bolus. This was followed by erythema of the skin surrounding the totally implantable venous access device, presented by the patient at the outpatient clinic two weeks later. No evidence of cardiovascular, pulmonary or septic complications was found. Radiographic imaging with contrast showed a misplaced venous access device guided into the right internal thoracic vein. After readjustment of the catheter, no further complications had occurred. Even though mispositioning of a venous access device is rarely documented as a late complication, it should be kept in mind in patients presenting with atypical thoracic pain and late-onset erythema of the surrounding skin.

(BELG J MED ONCOL 2022;16(1):37–40)

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Spinal dissemination of glial tumours: Two case reports and review of the literature

BJMO - volume 15, issue 7, november 2021

A. Balland MD, L. Renard MD, N. Whenham MD, P-A. Poncelet MD

SUMMARY

Glioblastoma rarely metastasise outside the brain. Mechanisms of distant dissemination are unclear, therapeutic options limited and prognosis poor. Here we report two cases of glial tumour with a secondary spinal spread. During their follow-up, patients developed neurological symptoms suggestive of a medullary affection. Diagnosis was based on spine MRI with demonstration of intramedullary or leptomeningeal enhancing lesions. Disease rapidly developed with an unfavourable outcome, despite oncological and best supportive treatments. We present a review of the literature focused on spinal dissemination of primary intracranial glioblastoma. We analyse the pathogenesis and the genetic mutations which might be involved. Finally, we discuss symptoms and possible treatments.

(BELG J MED ONCOL 2021;15(7):374-9)

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