Transient myeloproliferative disorder (TMD) in newborns with Down syndrome (DS) has been well described. We report 4 newborns, 2 with DS and 2 without DS, who developed TMD. One newborn with DS developed multiorgan failure and died despite treatment with low-dose cytarabine. In 3 newborns, the TMD resolved spontaneously. Two of these patients, 1 with and 1 without DS developed leukemia on subsequent follow-up and were treated successfully. We reviewed the clinical and laboratory data on 14 non-DS infants with TMD reported in the literature. According to limited data, these patients are more likely to develop leukemia than DS patients, however their outcome is better.
Follicular lymphoma (FL) is an indolent lymphoma that transforms to high-grade lymphoma, mostly diffuse large B-cell lymphoma, in about a third of patients. We present the first report of a case of FL that transformed to plasmablastic lymphoma (PBL). Clonal transformation of the FL to PBL was evidenced by identical IGH/BCL2 gene rearrangements and VDJ gene usage in rearranged IGH genes. IGH/ BCL2 translocation was retained in the PBL, which also acquired c-myc gene rearrangement. Genealogic analysis based on somatic hypermutation of the rearranged IGH genes of both FL and PBL suggests that transformation of the FL to PBL occurred most likely by divergent evolution from a common progenitor cell rather than direct evolution from the FL clone. Our study of this unusual case expands the histologic spectrum of FL transformation and increases our understanding of the pathogenetic mechanisms of transformation of indolent lymphomas to aggressive lymphomas.
Synovial sarcoma (SS) of the head and neck region are rare, accounting for less than 10% of all head and neck soft tissue sarcomas. A limited number of SS have been reported in the parapharyngeal space and these reports have all been based on histological examination of resection material. The diagnosis of monophasic SS on cytology is extremely difficult. We report the first case where a SS was correctly diagnosed on a fine needle aspirate by cytology with the assistance of immunocytochemistry and fluorescence in situ hybridization. We will emphasize the importance of ancillary techniques, such as immunocytochemistry and cytogenetic/molecular pathology, in avoiding diagnostic pitfalls and correctly diagnosing monophasic SS on cytologic material. We will propose an algorithmic approach to accurately diagnose parapharyngeal spindle cell neoplasms with the use of appropriate ancillary studies in conjunction to morphological features.
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