Acquired von Willebrand syndrome associated with plasma cell myeloma – a rare histopathological bone marrow image

Chraszczewska, Maria; Sokół, Kamil; Kuczkiewicz-Siemion, Olga; Prochorec‐Sobieszek, Monika; Szumera-Cieækiewicz, Anna

doi:10.5114/pjp.2019.93135

Cited by 1 publication

(1 citation statement)

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“…In addition to the inherited form, several other forms of the disease have been reported, including autoantibodies against VWF and conditions that may cause rapid degradation and clearance of VWF and adsorption of VWF on malignant cells. This kind of disease is called acquired von Willebrand syndrome (AVWS) [ 12 ]. Studies have also reported that alloimmunization in patients of type III vWD may also lead to clearance of VWF .…”

Section: Introductionmentioning

confidence: 99%

Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease

Naveed

Abid

Ali

et al. 2022

Genes

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Type III von Willebrand disease is present in the Punjab province of Pakistan along with other inherited bleeding disorders like hemophilia. Cousin marriages are very common in Pakistan so genetic studies help to establish protocols for screening, especially at the antenatal level. Factors behind the phenotypic variation of the severity of bleeding in type III vWD are largely unknown. The study was conducted to determine Mutations/genetic alterations in type III von Willebrand disease and also to determine the association of different mutations, methylation status, ITGA2B/B3 mutations and alloimmunization with the severity of type III vWD. After informed consent and detailed history of the patients, routine tests and DNA extraction from blood, mutational analysis was performed by Next Generation Sequencing on Ion Torrent PGM. DNA methylation status was also checked with the help of PCR. In our cohort, 55 cases were detected with pathogenic mutations. A total of 27 different mutations were identified in 55 solved cases; 16 (59.2%) were novel. The mean bleeding score in truncating mutations and essential splice site mutations was relatively higher than weak and strong missense mutations. The mean bleeding score showed insignificant variation for different DNA methylation statuses of the VWF gene at the cg23551979 CpG site. Mutations in exons 7,10, 25, 28, 31, 43, and intron 41 splice site account for 75% of the mutations.

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Section: Introductionmentioning

confidence: 99%