ONCOCASE

Elevated CA-15.3 in a patient with megaloblastic anaemia: A red herring in breast cancer follow-up

BJMO - volume 16, issue 7, november 2022

D. Schrijvers MD, PhD, M. Wyckmans BSc, N. Blockx MD, S. Mignon MD

SUMMARY

The cancer antigen 15.3 (CA-15.3) is an important tumour marker for the evaluation of patients with a history of breast cancer. An increase of CA-15.3 can be a sign of breast cancer recurrence and warrants further investigation. However, CA-15.3 is not specific and can be elevated in several oncological and benign conditions. This case describes a megaloblastic anaemia due to folic acid deficiency and elevated CA-15.3 in a patient with a history of breast cancer. No signs of breast cancer recurrence were found, and serum CA-15.3 levels normalised after supplementation of folic acid. Benign causes of CA-15.3 elevation should be considered when evaluating a patient with a history of breast cancer.

(BELG J MED ONCOL 2022;16(6):360–2)

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Stromal tumour of unknown malignant potential of the prostate: A case report and review of the literature

BJMO - volume 16, issue 6, october 2022

C. Mai MD, I. Vanden Bempt MD, PhD, K. Dewulf MD, L. Marcelis MD, PhD, L. Schillebeeckx MD, M. Albersen MD, PhD, M. Baldewijns MD, PhD, P. Willemen MD, S. Joniau MD, PhD, W. Everaerts MD, PhD

SUMMARY

Stromal tumour of unknown malignant potential (STUMP) is a rare type of mesenchymal tumour of the prostate. These tumours often cause obstructive urinary symptoms, haematuria or haematospermia and can be misdiagnosed as benign prostatic hyperplasia (BPH). STUMP has a variable and unpredictable clinical course. Generally, these tumours have a good prognosis since they are mostly confined to the prostate. However, a minority recurs after surgery and uncommonly can adhere to adjacent organs or (even more rarely) metastasizes. Progression to prostatic stromal sarcoma has rarely been reported. The diagnosis is made on histological examination of prostate tissue (from biopsy or transurethral resection of the prostate (TURP)). The appropriate treatment approach is currently unknown. Treatment recommendations should be based on patient age, treatment preference, size or extent of the lesion. This case report describes a case of a 68-years old man who presented with a STUMP and provides an overview of the literature on this topic.

(BELG J MED ONCOL 2022;16(6):303–6)

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Giant cell tumour of the jaw: Long-term treatment with denosumab in two patients

BJMO - volume 16, issue 6, october 2022

D. Schrijvers MD, PhD, G. Meert MD

SUMMARY

Giant cell tumour of the bone (GCTB) is an uncommon primary bone tumour with rare metastatic potential. Giant cell tumour of the jaw (GCTJ) is histologically similar to GCTB with comparable treatment options. Denosumab, a human monoclonal antibody working as a RANKL inhibitor is recommended for treating patients with unresectable giant cell tumours. However, data on long-term efficacy and toxicity (e.g. osteonecrosis of the jaw) remains scarce, especially in GCTJ. This article presents two cases of patients with a GCTJ who were treated with denosumab for over eight years with excellent disease control and without significant toxicity.

(BELG J MED ONCOL 2022;16(6):300–2)

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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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