Articles

Diagnostic testing in myeloid malignancies by next-generation sequencing: recommendations from the Commission Personalised Medicine

BJH - volume 10, issue 6, october 2019

E. Van Valckenborgh PhD, M. Bakkus PhD, E. Boone PhD, A. Camboni MD, PhD, J-P. Defour PhD, B. Denys MD, H. Devos MD, L. Dewispelaere MD, G. Froyen PhD, A. Hébrant PhD, P. Heimann MD, PhD, P. Hermans MD, PhD, E. Heylen PhD, K. Jacobs PhD, F. Lambert MD, M. Le Mercier Apr, PhD, E. Lierman PhD, H. Louagie MD, PhD, B. Maes MD, PhD, M-B. Maes PhD, G. Martens MD, PhD, L. Michaux MD, PhD, F. Nollet PhD, MSc, H.A. Poirel MD, PhD, G. Raicevic PhD, P. Saussoy MD, PhD, T. Tousseyn MD, PhD, M. Van Den Bulcke PhD, P. Vandenberghe MD, PhD, K. Vandepoele PhD, P. Vannuffel PhD, T. Venken PhD, K. Vermeulen PhD

SUMMARY

Molecular diagnostics have an increasing impact on diagnosis, risk stratification and targeted treatment in haemato-oncology. In the framework of a pilot study for the implementation of next-generation sequencing in the Belgian healthcare system, the Commission of Personalised Medicine was founded to give professional and evidence-based advice on the molecular analysis in haemato-oncology. This paper describes its recommendations for NGS analysis in myeloid malignancies. In addition, the minimally required set of genes that must be analysed is defined and algorithms for molecular workflow in myeloid malignancies are proposed.

(BELG J HEMATOL 2019;10(6):241–9)

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Systemic capillary leak syndrome as a prodrome of extranodal natural killer (NK)/T-cell lymphoma

BJH - volume 5, issue 4, december 2014

B. Hodossy MD, I. Vrelust MD, S. Anguille MD, PhD, V. Van Marck MD, PhD, M. Maes PhD, PharmD, K. Vermeulen PhD, A. Van De Velde MD, A. Gadisseur MD, PhD, W. Schroyens MD, PhD, Z. Berneman MD, PhD

Summary

We present the case of a 58-year-old male patient with a long-standing, intermittent oedema of the lower extremities and significant spontaneous variations in haematocrit values. Repeated examinations failed to reveal a clear etiology until the patient suffered from a severely painful exacerbation of leg oedema and hypotension. Laboratory analysis showed hypoalbuminemia. The combination of oedema, hypotension, hypoalbuminemia and hemoconcentration was indicative of a systemic capillary leak syndrome. This condition is known to be associated with monoclonal gammopathy, as was the case in our patient. New investigations showed suspicious lesions in the nasopharynx, scrotum and breast. Biopsies of this breast mass as well as bone marrow biopsy showed the presence of an extranodal natural killer/T-cell lymphoma, nasal type. Polychemotherapy was administered according to the SMILE schedule leading to a remission after two cycles. The patient then underwent autologous hematopoietic stem cell transplantation. The patient is currently without signs of systemic capillary leak syndrome. This report illustrates that systemic capillary leak syndrome may occur as a prodrome of haematological malignancies, such as natural killer/T-cell lymphoma and documents that it is responsive to chemotherapy.

(BELG J HEMATOL 2014;5(4):148–53)

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Myeloid sarcoma or lymphoblastic lymphoma? A closer look at the laboratory diagnosis

BJH - volume 4, issue 3, september 2013

L. Roosens PhD, K. Vermeulen PhD, A. Verlinden MD, H. Devos MD, E. Van Assche , I. Vrelust MD, M-B. Maes PhD, R. Malfait MD

Summary

Although a myeloid sarcoma is a rare form of extramedullary leukaemia, its early diagnosis has been proven to be of utmost importance. Its presence is strongly related to the onset or the presence of systemic bone marrow leukaemia. However, the diagnosis of myeloid sarcoma is not straightforward. In the existing literature, approximately half of the cases of myeloid sarcoma were initially misdiagnosed as lymphoma. The current case reports details on the laboratory diagnosis of myeloid sarcoma in a 25-year old male. The laboratory presentation of myeloid sarcoma and the consecutive steps in order to correctly diagnose myeloid sarcoma using a variety of laboratory techniques including microscopy, flow cytometry and cytogenetics are highlighted.

(BELG J HEMATOL 2013;4(3): 106–109)

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