Volume 3, Issue 1, March 2018

Case Report

Delayed Diagnosis of Niemann-Pick Disease in a 31-year-old Caucasian Woman Page 1-4
Yang Shi, Evan Kulbacki, and Endi Wang
Abstract

Niemann-Pick disease (NPD) is a rare inherited autosomal recessive neurodegenerative disease
usually diagnosed at young age. Type A and B Patients are characterized by Sphingomyelin phosphodiesterase 1 (SMPD1) gene mutation and frequently have ataxia, dystonia, early-onset cognition decline or even dementia. However, type C patients have NPD Type C (NPC1) gene mutation and can show a wide spectrum of clinical presentations, leading to potential delayed diagnosis. A 31-year-old Caucasian woman presented with dyspnea on exertion, massive splenomegaly and progressive thrombocytopenia. CT showed multiple bilateral lung nodules. Lung biopsy demonstrated intra-alveolar collection of foamy, vacuolated histiocytes. Bone marrow biopsy revealed collection of foamy, vacuolated histiocytes characteristic of NPD. Molecular test detected heterozygous A196P mutation of SMPD1 gene and one heterozygous mutation of NPC1 gene. The diagnosis of NPD type C is rendered by biochemical testing that demonstrates impaired cholesterol esterification and positive filipin staining in cultured fibroblasts.

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Plasma Cell Leukemia Presents with Marked Plasmacytosis and TP53 Mutation Page 5-6
Wei Wang, L. Jeffrey Medeiros, Pei Lin

Case Report

B-Lymphoblastic Leukemia/Lymphoma with CRLF2 Overexpression: A Case Study of Three Patients Page 7-13
Margaret Williams and K. David Li
Abstract

B-lymphoblastic leukemia/lymphoma with CRLF2 overexpression belongs to the BCR-ABL1
like B- lymphoblastic leukemia / lymphoma group (BCR-ABL1-like B-ALL), also known as Philadelphia chromosome-like B-ALL, a recently recognized provisional entity in the latest edition of World Health Organization Classification of Tumors of Hematopoietic and Lymphoid Tissues (2016). Although lacking the classic t(9;22) BCR-ABL1, BCR-ABL1-like B-ALL shares a similar gene expression profile with BCR-ABL1 translocation associated B-ALL. BCR-ABL1-like B-ALL often have translocations involving CRLF2, EPOR, or other tyrosine kinases. Due to prognostic importance and potential therapeutic differences, it is important to recognize and diagnose BCR-ABL1-like B-ALL in a timely manner. In this report, we describe a series of three adult patients with the diagnosis of B-ALL with CRLF2 overexpression and present all relevant clinical and pathologic findings.