scholarly journals Coexisting BRAF-Mutated Langerhans Cell Histiocytosis and Primary Myelofibrosis with Shared JAK2 Mutation

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Johanne Marie Holst ◽  
Marie Beck Enemark ◽  
Trine Lindhardt Plesner ◽  
Martin Bjerregaard Pedersen ◽  
Maja Ludvigsen ◽  
...  

Langerhans cell histiocytosis (LCH) is an infrequent disease, characterized by oligoclonal proliferation of immature myeloid-derived cells. However, the exact pathogenesis remains unknown. In rare cases, LCH is present in patients with concomitant myeloid proliferative neoplasms. Here, we describe a 69-year-old male, who presented with a maculopapular rash covering truncus, face, and scalp. A cutaneous ulcerating lesion on the right cheek led to a biopsy showing LCH. Lesional cells were BRAFV600E and JAK2V617F mutated. A bone marrow aspirate showed no infiltration of Langerhans cells, but alterations consistent with primary myelofibrosis (PMF) and a polymerase chain reaction test were positive for JAK2V617F. Our case highlights an uncommon condition of two hematological malignancies present in the same patient. The identification of the BRAFV600E mutation supports previous findings of this mutation in LCH. Interestingly, a JAK2V617F mutation was found in both LCH and PMF cells, indicating a possible clonal relationship between the two malignancies.

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Łukasz Adaszek ◽  
Anna Wilczyńska ◽  
Jerzy Ziętek ◽  
Marcin Kalinowski ◽  
Oliwier Teodorowski ◽  
...  

Abstract Background Anaplasma are obligate intracellular bacteria and aetiological agents of tick-borne diseases of both veterinary and medical interest. The genus Anaplasma comprises six species: Anaplasma marginale, Anaplasma centrale, Anaplasma ovis, Anaplasma phagocytophilum, Anaplasma bovis and Anaplasma platys. They can infect humans, carnivores, ruminants, rodents, insectivores, birds and reptiles. The aim of this study was to present the first clinical case of granulocytic anaplasmosis in a captive ring-tailed lemur in Poland. Case presentation A 4-year-old female lemur presented anorexia, epistaxis and tick infestation. The microscopic examination of a blood smear revealed morulae in neutrophils. Polymerase chain reaction test and sequencing of obtained PCR product confirmed infection by the GU183908 Anaplasma phagocytophilum strain. Therapeutic protocol included doxycycline (2.5 mg/kg p.o., b.i.d.) for 3 weeks and the lemur recovered within 24 h. Conclusions This is the first report on granulocytic anaplasmosis in a ring-tailed lemur in Europe, indicating that A. phagocytophilum infection must also be considered in differential diagnosis in this animal species, especially in individuals with thrombocytopenia associated with Ixodes ricinus parasitism.


2006 ◽  
Vol 43 (7) ◽  
pp. 855-859 ◽  
Author(s):  
Fernando Osores ◽  
Oscar Nolasco ◽  
Kristien Verdonck ◽  
Jorge Arevalo ◽  
Juan Carlos Ferrufino ◽  
...  

2001 ◽  
Vol 64 (2) ◽  
pp. 164-167 ◽  
Author(s):  
G. TANTILLO ◽  
A. DI PINTO ◽  
A. VERGARA ◽  
C. BUONAVOGLIA

A polymerase chain reaction test was developed to detect Brucella spp. directly in milk and cheese and optimized using primers for the BSCP-31 gene. A total of 46 cheese samples produced with sheep and goats milk were assayed, and Brucella spp. was detected in 46% of them, especially in cheese made from sheep milk. This method is of remarkable epidemiologic interest because it is an indirect test indicating the sanitary quality of milk used in dairy industries. The method showed good sensitivity and specificity. It is faster and less expensive than the conventional bacteriological assays.


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