An unusual case of pure erythroid leukemia with normal karyotype and NPM1 mutation.

Pure erythroid leukemia (PEL) is an extremely rare subtype of acute myeloid leukemia (AML). Although not specific, PEL is almost uniformly associated with complex karyotype and TP53 mutations. Given the rarity of the disease, our understanding of its cytogenetic and molecular features deems incomplete. We aim to complement existing literature by presenting an unusual case of PEL. The case is comprehensively worked up with multiple modalities. We present for the first time a case of PEL with unusual cytogenetic and molecular features: normal karyotype with absence of TP53 mutations and presence of NPM1 and NRAS mutations. This is a valuable addition to literature, expanding our understanding of molecular and cytogenetic spectra of PEL.

Synovial Sarcoma of the Hand.

The incidence of synovial sarcoma is 1.548 per 1,000,000. Synovial sarcoma localized to the palmar surface should, therefore, be considered extremely rare. This report documents a 34-year-old male with a right hand mass that had been present for a few years, continuing to grow in size. The mass was located at the palm and extended from the mid-third metacarpal to involve all digits except the thumb. The mass was determined to be monophasic synovial sarcoma on histopathologic exam. Fluorescence in situ hybridization for SYT gene rearrangement was positive in 72% of cells. Resection of the mass was followed by radiation and chemotherapy. The patient had a long-term follow-up of 3.5 years with no evidence of any local recurrence of the tumor. This report increases awareness of this extremely rare malignancy-an awareness that is crucial for early diagnosis and improved survival rates. It is more common at younger ages but it can occur at any age, so it should be suspected and included in the differential diagnosis, especially when evaluating slow growing, nonresolving hand lesions.

Retinoblastoma in Infancy with Subsequent Bladder Leiomyosarcoma in Adulthood: Genomic Considerations.

Hereditary retinoblastoma is attributed to germline mutation in an RB1 tumor suppressor gene followed by somatic mutation in the other allele. This report details a case of leiomyosarcoma of the bladder in a 24-year-old man with a history of retinoblastoma treated by enucleation and radiotherapy in infancy. Leiomyosarcoma is the most common secondary soft tissue malignancy in retinoblastoma survivors; however, leiomyosarcoma of the bladder in retinoblastoma survivors is very rare. Survivors of hereditary retinoblastoma should be monitored closely for secondary malignancies, and there should be an increased suspicion of malignancy. Furthermore, tumors can occur outside the field of radiation.