HEMATOCASE

Complete response of Sweet syndrome associated with myelodysplastic syndrome to 5-azacytidine

SUMMARY

Sweet syndrome (SS), known as acute febrile neutrophilic dermatosis, is an inflammatory disorder characterised by the abrupt appearance of painful, oedematous and erythematous skin lesions. It is a relatively rare phenomenon, with unknown pathogenesis but is often associated with haematological malignancies. We present the case of a 74-year old patient with low risk myelodysplastic syndrome (MDS) (IPSS-R of three) who suffered from Sweet syndrome complicated by inflammatory ischemic events and weight loss. The patient was treated for his underlying MDS with 5-azacytidine (Vidaza) (samples obtained from Celgene) after failure of other commercially available therapies for SS. His signs and symptoms resolved in a few months and his quality of life significantly improved over time.

(BELG J HEMATOL 2021;12(4):169-72)

Intracranial myeloid sarcoma as rare presentation of BCR-ABL-positive acute myeloid leukaemia: A case report

SUMMARY

Introduction: BCR-ABL positive acute myeloid leukaemia is recognised as a provisional entity in the WHO 2016 classification for AML and related precursor neoplasms. Myeloid sarcoma is an extramedullary accumulation of immature myeloid cells, intracranial occurrence is rare.

Case report: A 40-year old male presented with an intracranial mass and peripheral blood blastosis of 65%. A diagnosis of acute myeloid leukaemia with intracranial myeloid sarcoma was presumed, requiring urgent cranial decompression. The patient received standard AML induction therapy with daunorubicine and cytarabine. Molecular analysis surprisingly revealed BCR-ABL positivity.

Discussion: BCR-ABL positive AML is a rare entity and needs to be differentiated from CML in blast crisis because of therapeutic consequences. In our case, clinical and molecular features suggested a diagnosis of AML.

Conclusion: To the best of our knowledge, this is the first case of intracranial myeloid sarcoma as a concurrent presentation of BCR-ABL-positive acute myeloid leukaemia.

(BELG J HEMATOL 2021;12(4):165-8)

Pleuropericardial effusion in CLL patients treated with ibrutinib: a causal relationship?

SUMMARY

Ibrutinib is an inhibitor of Bruton’s tyrosine kinase used in the treatment of different B-cell malignancies. We describe a case of an 82-year-old woman with known chronic lymphocytic leukaemia (CLL) treated with ibrutinib who presented to the medical department with a symptomatic pericardial and pleural effusion. Extensive investigations were performed to rule out the most common aetiologies. Diagnosis of pleuro-pericardial effusion as an infrequently reported adverse effect of ibrutinib was made. Signs, symptoms, echocardiographic and radiographic abnormalities resolved steadily with anti-inflammatory therapy, pericardiocentesis, various thoracenteses and eventually surgical pleurodesis. Therapy with ibrutinib was definitively interrupted. A similar case of an 88-year-old male patient with stage IV mantle cell lymphoma was seen a few months later. These two cases suggest a causal relationship between therapy with ibrutinib and the onset of a symptomatic pleuropericardial effusion.

(BELG J HEMATOL 2020;12(3):132-7)

Managing complement deficiencies: Not as complex as it seems

SUMMARY

We describe two young children with pneumococcal meningitis, one of them with a complement deficiency. Our aim is to illustrate the importance of testing the complement system in young patients with severe bacterial infections and to stress the importance to respect pre-analytical conditions. We found in a child of consanguineous parents a complement factor I deficiency, which is associated with severe recurrent pyogenic infections mainly caused by Neisseria meningitidis, Streptococcus pneumoniae and Haemophilus influenzae. We conclude that complement deficiencies are rare but immunological workup should be done in case of recurrent bacterial infections. Patients need follow up, antibiotic prophylaxis and additional vaccinations.

(BELG J HEMATOL 2020;12(2):85-9)

Long-term treatment-free molecular remission in a FIP1L1-PDGFRA positive myeloid/lymphoid neoplasm with eosinophilia after Imatinib discontinuation

SUMMARY

A 47-year-old patient was diagnosed with FIP1L1-PDGFRA-positive myeloid/lymphoid neoplasm with eosinophilia (F/P+ MLN-eo) and was successfully treated with Imatinib, achieving a sustained molecular treatment free remission (TFR) persisting three years after discontinuation.

(BELG J HEMATOL 2020;11(7):320-4)

Rhabdomyosarcoma mimicking acute leukaemia diagnosed on bone marrow

SUMMARY

A 65-year-old woman presented with thrombocytopenia. A bone marrow biopsy was done and showed a cellular bone marrow infiltration by 94% of blast-like cells making the diagnosis of acute leukaemia. However, flow cytometry excluded hematological malignancy. After an extensive panel of immunohistochemical stains and genetic analysis, the diagnosis of metastatic alveolar rhabdomyosarcoma was made.

(BELG J HEMATOL 2020;11(7):317-9)

DNAJC21 mutations as a cause of early onset bone marrow failure: report of two cases

SUMMARY

DNAJC21 mutations have recently been discovered as the rare cause of a Swachmann Diamond-like syndrome. So far, fifteen children have been reported in literature. We here describe two new patients from two different families, both harbouring previously undescribed mutations. Our patients had different mutations, but looked phenotypically alike and both presented with oral aversion. One patient presented with amegakaryocytosis only, which is not described as such in literature. The other patient presented with low platelets and only a mild decrease in neutrophils and haemoglobin, had only amegakaryocytosis in the bone marrow and developed pancytopenia soon afterwards. Finally, both patients had low elastase in stool, although they had no clinical signs of pancreatic insufficiency, hinting that this easy test should not be forgotten in the work up of patients with congenital amegakaryocytosis or bone marrow failure syndrome.

(BELG J HEMATOL 2020;11(6):268-71)