Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome

Activated phosphoinositide 3-kinase δ syndrome (APDS) is an autosomal dominant primary immunodeficiency caused by acquired gene function mutation (GOF). APDS has a variety of clinical phenotypes, particularly recurrent respiratory infections and lymphoproliferation. Here we report a pediatric patient with APDS who presented with recurrent respiratory infections, lymphoproliferation, hepatosplenomegaly, bronchoscopy suggesting numerous nodular protrusions in the airways and a decrease in both T and B lymphocytes, and progression to plasmablastic lymphoma (PBL) after 1 year. Whole exome sequencing revealed a heterozygous mutation in the PIK3CD gene (c.3061 G>A p.E1021K). This is the first reported case of APDS combined with PBL and pediatricians should follow up patients with APDS regularly to be alert for secondary tumours.

Gross and microscopic changes of liver neoplasms and background hepatic structures following neoadjuvant therapy

Liver transplantation is a surgical option with curative intent used in the management of some cases of hepatocellular carcinoma and cholangiocarcinoma (hilar, rarely intrahepatic). A number of different therapeutic modalities including ablative techniques, arterially directed therapies, radiation and chemotherapy are used in the neoadjuvant setting prior to liver transplantation with the goals of preventing tumour progression, decreasing post-transplant recurrence and possibly downstaging patients with tumour burden beyond what is acceptable by current transplant criteria. Pathologists evaluating hepatic explants must be aware of these neoadjuvant therapies and the alterations induced by them in both tumourous and non-tumourous tissue. In this review, we discuss common neoadjuvant therapies used in in this setting, as well as the gross and microscopic changes induced by these presurgical treatments within hepatic neoplasms as well as the background hepatic parenchyma and nearby structures. Select secondary tumours involving the liver which are pretreated will also be discussed. Finally, proper reporting of these changes will be mentioned.

Myoid Angioendothelioma of the Spleen - Case Report and Literature Review

Myoid angioendothelioma (MA) represents an extremely rare nonhaematopoietic proliferation of the spleen. MA is a rare, benign, vascular tumour that consists of vascular elements and arranged stromal cells. Due to an absence of specific clinical signs and symptoms, MA is considered challenging to diagnose. Although the radiological presentation can indicate the vascular nature of the tumour, the diagnosis of MA is almost exclusively obtained from the use of histopathology after surgical excision and immunohistochemistry of the tissue. Due to its completely unclear biological behaviour and relationship with other primary and secondary tumours, the only effective therapy for MA is splenectomy and a regular postoperative follow-up. Herein, we report a case of a 26-year-old male patient with nonspecific abdominal pain and a radiologically detected tumour of the spleen who underwent a laparoscopic splenectomy. Histopathologic and immunohistochemical examinations confirmed a myoid angioendothelioma of the spleen.

Epidemiology and classification

Cardiac masses include tumours, thrombi, vegetations, calcific lesions, and other very rare conditions. Cardiac tumours include benign tumours and tumour-like lesions, malignant tumours, and pericardial tumours. The estimated prevalence for primary cardiac tumours is 1:2.000 and for secondary tumours 1:100 autopsies. The incidence of cardiac metastases ranges from 2.3% to 18.3% of patients with extra-cardiac malignancies. About 10% of primary cardiac tumours are malignant and 90% benign. The majority of primary benign cardiac tumours are myxomas, followed by papillary fibroelastomas. Undifferentiated pleomorphic sarcomas are the most common primary malignant cardiac tumours, followed by angiosarcoma and leiomyosarcoma.