Comprehensive molecular profiling of multiple myeloma identifies refined copy number and expression subtypes.

Multiple myeloma is a treatable, but currently incurable, hematological malignancy of plasma cells characterized by diverse and complex tumor genetics for which precision medicine approaches to treatment are lacking. The Multiple Myeloma Research Foundation's Relating Clinical Outcomes in Multiple Myeloma to Personal Assessment of Genetic Profile study ( NCT01454297 ) is a longitudinal, observational clinical study of newly diagnosed patients with multiple myeloma (n = 1,143) where tumor samples are characterized using whole-genome sequencing, whole-exome sequencing and RNA sequencing at diagnosis and progression, and clinical data are collected every 3 months. Analyses of the baseline cohort identified genes that are the target of recurrent gain-of-function and loss-of-function events.

WD Repeat Domain 1 (WDR1) Deficiency Presenting as a Cause of Infantile Inflammatory Bowel Disease.

Infantile and very early onset inflammatory bowel disease (VEOIBD) are a rare phenomenon wherein patients develop intestinal inflammation with typical IBD symptoms before ages 2 and 6, respectively. In recent years, there has been an increasing number of monogenetic immunological disorders identified that lead a child to develop VEOIBD. We present a case of an infant boy who presented with hematochezia and thrombocytopenia in the first week of life and developed IBD by the age of 1 month.

Combined Tumors in Hematolymphoid Neoplasms: Case Series of Histiocytic and Langerhans Cell Sarcomas Arising From Low-Grade B-Cell Lymphoma.

We report an index case of histiocytic sarcoma arising in a 70-year-old patient with long-standing chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). The patient presented in 2017 with painful, enlarging swelling of the left neck. He had remote history of cutaneous squamous cell carcinoma with no sign of recurrence, and his CLL/SLL was thought to be in remission.

Primary squamous cell carcinoma of the distal hallux.

Squamous cell carcinoma is a common disease of cutaneous tissue with a great ability to form metastases. Squamous cell carcinoma is found most commonly on sun-damaged skin and has a rare occurrence on the toes and feet. The patient was a 68-year-old woman who was seen at a podiatric specialty office with a complaint of pain in her left great toe and toenail.

A B-cell lymphoma diagnosed in "floater" tissue: implications of the diagnosis and resolution of a laboratory error.

Contamination of a paraffin-embedded tissue block with another patient's tissue can lead to an incorrect diagnosis. We report the use of short tandem repeats for the analysis of DNA extracted from microdissected tissue from unstained slides prepared from a decalcified block from a 33-year-old woman who was previously diagnosed with a low-grade B-cell lymphoma. This diagnosis was based on a single fragment of tissue found among bone fragments taken during orthopedic surgery at a referring hospital.

Delayed occurrence of multiple spinal drop metastases from a posterior fossa choroid plexus papilloma. Case report.

Choroid plexus papilloma is a benign central nervous system tumor that occasionally spreads along the subarachnoid space. The authors report the case of a 49-year-old man who presented with back pain 19 years after resection of a posterior fossa choroid plexus papilloma. Magnetic resonance imaging revealed multiple spinal lesions without any residual or recurrent intracranial tumor.

Differential gene expression in anaplastic lymphoma kinase-positive and anaplastic lymphoma kinase-negative anaplastic large cell lymphomas.

Anaplastic large cell lymphoma (ALCL) is an aggressive large T- or null-cell lymphoma. Most ALCLs arising in children and young adults express a constitutively active receptor tyrosine kinase, anaplastic lymphoma kinase (ALK). Anaplastic large cell lymphomas lacking ALK are clinically heterogeneous and their pathogenesis is unknown.