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Summary Gastrointestinal symptoms are commonly reported in patients with 22q11.2 deletion syndrome or DiGeorge syndrome (DGS) in addition to the dominant cardiac manifestations and immunodeficiency. But literature providing specific morphologic details of the gastrointestinal tract pathology is very limited. Here, we provide the first comprehensive morphologic description of the luminal gastrointestinal tract changes in patients with DGS. Cytogenetically confirmed DGS patients were identified, clinical and laboratory data were reviewed to determine the severity of immunodeficiency, and patients were stratified into mildly immunocompromised, that is, partial DiGeorge anomaly or severely immunosuppressed, that is, complete DiGeorge anomaly groups. Gastrointestinal tract biopsies from these patients were retrospectively reviewed and compared with those from controls without the history of DGS. Patients with immunosuppressed DGS showed a near complete absence of plasma cells in the stomach, duodenum, and colon lamina propria by hematoxylin and eosin evaluation. Immunohistochemistry for CD138 used to highlight plasma cells confirmed this finding. The notable absence of plasma cells adds to the existing knowledge of the pathophysiology underlying DGS and expands the differential diagnostic considerations for this finding, which has been previously described in common variable immunodeficiency. It also provides a useful morphologic marker observable by the readily accessible light microscopy. Second, patients with DGS showed a mild increase in epithelial cell apoptosis in their colon. This finding is significant because of its overlap with morphologic features of gastrointestinal graft versus host disease as thymus transplantation is being used as a treatment option for patients with complete DGS.

AimsMyeloid neoplasms occur in the setting of chronic lymphocytic leukaemia (CLL)/CLL-like disease. The underlying pathogenesis has not been elucidated.MethodsRetrospectively analysed 66 cases of myeloid neoplasms in patients with CLL/CLL-like disease.ResultsOf these, 33 patients (group 1) had received treatment for CLL/CLL-like disease, while the other 33 patients (group 2) had either concurrent diagnoses or untreated CLL/CLL-like disease before identifying myeloid neoplasms. The two categories had distinct features in clinical presentation, spectrum of myeloid neoplasm, morphology, cytogenetic profile and clinical outcome. Compared with group 2, group 1 demonstrated a younger age at the diagnosis of myeloid neoplasm (median, 65 vs 71 years), a higher fraction of myelodysplastic syndrome (64% vs 36%; OR: 3.1; pConclusionsMyeloid neoplasm in the setting of CLL/CLL-like disease can be divided into two categories, one with prior treatment for CLL/CLL-like disease and the other without. CLL-type treatment may accelerate myeloid leukaemogenesis. The risk is estimated to be 13-fold higher in patients with treatment than those without. The causative agent could be attributed to fludarabine in combination with alkylators, based on the latency of myeloid leukaemogenesis and the cytogenetic profile.

Intravascular papillary endothelial hyperplasia (IPEH), commonly known as Masson’s tumor, is a benign lesion that manifests as an excessive proliferation of endothelial cells within a vessel wall. IPEH is extremely rare in the brain, with only 36 intracranial cases previously described in the literature. It is commonly mistaken for more malignant pathologies, such as angiosarcoma. Careful histopathological examination is required for diagnosis, as no clinical or radiographic features are characteristic of this lesion. In this first published case of intracranial IPEH presenting during pregnancy, the authors describe a 32-year-old female with a left frontal intraparenchymal hemorrhage resulting in complete expressive aphasia at 28 weeks 6 days’ gestation. An MRI scan obtained at a local hospital demonstrated an area of enhancement within the hemorrhage. The patient underwent a left frontoparietal craniotomy for hematoma evacuation and gross-total resection (GTR) of an underlying hemorrhagic mass at 29 weeks’ gestation. This case illustrates the importance of multidisciplinary patient care and the feasibility of intervention in the early third trimester with subsequent term delivery. While GTR of IPEH is typically curative, the decision to proceed with surgical treatment of any intracranial lesion in pregnancy must balance maternal stability, gestational age, and suspected pathology.

Myeloid neoplasms occasionally occur in patients with sickle cell disease, and the underlying connection between the two diseases is unclear. Herein, we retrospectively analyzed four cases of sickle cell disease patients who developed myeloid neoplasm. Age at time of diagnosis ranged from 27 to 59 years with a median of 35.5 years. Two patients were treated with hydroxyurea and the other two with supportive care alone, with one out of the four patients receiving additional treatment with hematopoietic stem cell transplant. Three patients presented with leukocytosis, and the remaining patient presented with pancytopenia. Two patients were diagnosed with myelodysplastic syndrome/myeloproliferative neoplasm, one with myelodysplastic syndrome, and the other with acute myeloid leukemia. All four cases demonstrated certain degrees of myelodysplasia and complex cytogenetic abnormalities with - 7/7q- and/or - 5/5q- or with 11q23 (KMT2A) rearrangement. This cytogenetic profile resembles that seen in therapy-related myeloid neoplasm, suggesting that myeloid neoplasm in the setting of sickle cell disease may represent a subcategory of the disease distinct from de novo myeloid neoplasm in general. Extensive literature review further demonstrates this similarity in cytogenetic profile, as well as in other associated pathologic features. Potential etiology includes therapy for sickle cell disease, disease-related immunomodulation, or disease-related chronic inflammation. We hypothesize that constant hematopoietic hyperplasia, stimulated by a hemolysis-induced cytokine storm, may increase the chance of somatic mutations/cytogenetic aberrations, resulting in transformation of myeloid precursors. This group of myeloid neoplasms seems to herald a dismal clinical outcome, with median survival

Splenosis refers to ectopic splenic implants that are often found incidentally years after splenic rupture/splenectomy, and the nodules of splenosis are usually small, less than 3 cm for the majority. We report a case of splenosis with a 5-centimeter large mass in the anterior abdomen in a 79 year-old male with a remote history of splenic rupture/splenectomy. Unexpectedly, needle core biopsy of the abdominal mass demonstrated splenic tissue with a mononucleated cell infiltrate blurring the splenic architecture that was highlighted only by CD8 stain. This finding prompted a bone marrow examination resulting in the diagnosis of acute myeloid leukemia in the patient. Retrospectively, enlargement of this ectopic spleen may have been caused by this leukemic infiltrate. This case underscores the importance of being aware of this rare pathological condition and its retained vulnerability for involvement by hematolymphoid neoplasms, as well as significance of identifying splenic architecture highlighted by CD8 stain to reach a correct diagnosis.