A 17-Month-old Boy With Pancytopenia Caused by a Rare Genetic Defect of Vitamin B12 Malabsorption.

Imerslund-Gräsbeck syndrome is an autosomal recessive disorder of vitamin B12 malabsorption presenting with megaloblastic anemia and mild proteinuria in childhood. The disorder is caused by biallelic pathogenic variants in the CUBN or AMN genes, which encode proteins involved in B12 absorption. We present the case of a 17-month-old boy with failure to thrive, pancytopenia, and fevers.

Angioimmunoblastic T-Cell Lymphoma with Polyarthritis Resembling Rheumatoid Arthritis.

Angioimmunoblastic T-cell lymphoma (AITL) is a rare subtype of peripheral T-cell lymphoma (PTCL). AITL typically presents with lymphadenopathy, fever, rash, hepatosplenomegaly, and rarely polyarthritis. We report the case of a 50-year-old female who presented with lymphadenopathy, rash, and symmetric polyarthritis.

Immunohistochemical evaluation of MYC expression in mantle cell lymphoma.

Aim: To assess the validity and potential clinical utility of evaluating MYC expression by immunohistochemistry (IHC) in mantle cell lymphoma (MCL).

Methods And Results: MYC IHC was scored on a tissue microarray containing 62 MCLs and 29 controls by two pathologists. Inter-observer correlation was high (intra-class correlation of 0.

Low-dose ruxolitinib for improving leukopaenia and reducing recurrent infections associated with myelofibrosis.

Myelofibrosis, either primary or resulting from essential thrombocythemia or polycythemia vera, may present with highly variable white blood cell counts, including progressive leukopaenia with its associated risk of infections. Medications have been developed to reduce splenomegaly and other symptoms, but there are no reports of improved white blood cell counts. We report a case of primary myelofibrosis with marked improvement in leukopaenia and reduced recurrent infections, in addition to reduction in spleen size and improvement in disease-associated symptoms, within 20 weeks after using low-dose ruxolitinib.

Laboratory evaluation for vitamin B12 deficiency: the case for cascade testing.

Objective: Potential vitamin B(12) deficiency is a common clinical diagnostic problem, and many providers have a low threshold for initiating therapy. The goal of this study was to systematically evaluate current practice patterns regarding the laboratory evaluation of suspected vitamin B(12) deficiency.

Methods: This retrospective study reviewed the electronic medical records of 192 patients initiated on intramuscular vitamin B(12) injections.

Unusual presentation of a rare cancer: histiocytic sarcoma in the brain 16 years after treatment for acute lymphoblastic leukemia.

Histiocytic sarcoma (HS) is a very rare hematopoietic neoplasm that has been reported in association with other hematological malignancies. Presentation of HS in the central nervous system is even less common. Diagnosis of HS requires the presence of histiocytic markers and the systematic exclusion of markers of other cell lineages.

Acute transient sensorineural hearing loss due to Anaplasma phagocytophilum.

We report the case of a patient who presented with a 3-month history of random epistaxis and recent onset of acute hearing loss associated with fever, chills, and myalgias. Pure tone audiometry revealed bilateral sensorineural hearing loss. Complete blood cell count showed an abnormal neutrophil count of 700/uL (normal >1900/microL) and platelet count of 25 x 10(3)/microL (normal >175 x 10(3)/microL).

Pediatric histiocytic sarcoma clonally related to precursor B-cell acute lymphoblastic leukemia with homozygous deletion of CDKN2A encoding p16INK4A.

Histiocytic sarcoma (HS) is a rare malignancy of tissue histiocytes with a dismal prognosis. We report a 4-year-old male who developed HS during maintenance chemotherapy for precursor B-cell acute lymphoblastic leukemia (pre-B ALL). Both tumors showed identical clonal immunoglobulin and T-cell receptor gene re-arrangement patterns, as well as homozygous deletion of the CDKN2A gene encoding p16(INK4A).

The gammadelta variant of T cell large granular lymphocyte leukemia is very similar to the common alphabeta type: report of two cases.

The vast majority of cases of T cell large granular lymphocyte (T-LGL) leukemia have a CD3+, CD4-, CD8+ phenotype and express the alphabeta T cell receptor. Whether the rare gammadelta variant should be included in the same diagnostic category is currently unclear. Two well-characterized cases of gammadelta T-LGL leukemia were identified by our laboratory in 2007.

Use of chromogenic assay of factor X to accept or reject INR results in Warfarin treated patients.

A warfarin treated patient unexpectedly presented with an elevated international normalized ratio (INR). Repeat testing in two laboratories gave conflicting results. The chromogenic assay of factor X was used to determine the correct INR result.

Nonsecretory plasma cell myeloma--becoming even more rare with serum free light-chain assay: a brief review.

Context: Nonsecretory plasma cell myeloma is characterized by an absence of detectable monoclonal protein in both the serum and urine. It is generally reported to comprise approximately 1% to 5% of all cases of plasma cell myeloma and, because of its rarity, requires a high index of suspicion and bone marrow biopsy to establish the diagnosis.

Objective: Review the diagnostic strategy when nonsecretory plasma cell myeloma is a clinical consideration in light of a relatively new serum free light chain assay.

Ringed sideroblasts with thrombocytosis: an uncommon mixed myelodysplastic/myeloproliferative disease of older adults.

Sideroblastic anaemia with ringed sideroblasts and marked thrombocytosis, hereupon referred to as ringed sideroblasts with thrombocytosis (RST), is a provisional entity in the 2001 World Health Organisation classification scheme. This retrospective study identified 16 patients with RST over a 7-year period. Proposed diagnostic criteria include a sustained platelet count > 500 x 10(9)/l, > or = 15% ringed sideroblasts, < 3% bone marrow blasts, and normal conventional cytogenetics.