t(X;14)(q28;q11.2) TRA-TRD/MTCP1

T-cell prolymphocytic leukemia (T-PLL) is a rare and aggressive post-thymic lymphoid neoplasm characterized by recurrent chromosome rearrangements that lead to activation of the TCL1A (14q32.1) or the MTCP1 (Xq28) genes. In this report, we focus on the t(X ;14)(q28 ;q11.2), which is thought to occur in approximately 20% of T-PLL cases and leads to overexpression of the MTCP1 gene by relocation to the T-cell receptor alpha/delta (TRA/D) located at 14q11.2 locus. A rare variant of the t(X ;14) is the t(X ;7)(q28 ;q34) also leading to overexpression of MTCP1 this time by relocation to the T-cell receptor beta (TRB) locus. Approximately 80% of T-PLL cases, however, are characterized by the inv(14)(q11.2q32.1) and variants, which lead to the activation of the TCL1A (14q32.1) gene by relocation to the TRA/D or TRB gene loci. The additional abnormalities in cases with MTCP1 or TCL1A related abnormalities are similar and include gain of 8q usually in the form of i(8q), as well as deletions 6q, 9p, 11q, and 13q

t(7;11)(p15;p15) NUP98/HOXA13

Review on Renal cell carcinoma with t(X;1)(p11;p34) SFPQ/TFE3, with data on clinics, and the genes involved

Bilateral synchronous tibial periosteal osteosarcoma with familial incidence

Multifocal or multicentric osteosarcoma (OS) has been described as tumor occurrence at two or more sites in a patient without visceral metastasis. These may be synchronous (more than one lesion at presentation) or metachronous (new tumor developing after the initial treatment). The incidence of multifocal OS has ranged from 1.5 to 5.4% in large series, with the synchronous type being rarer. Similarly, periosteal OS is another rare subtype of surface OS and constitutes less than 2% of all OS. An 11-year-old female was diagnosed with bilateral synchronous tibial periosteal OS, which were confirmed by CT-guided biopsies. After neoadjuvant chemotherapy, the patient underwent a staged wide local resection of the tumors. The defect was reconstructed with a proximal tibial replacement on the left side and autologous bone grafting on the right side. The patient did well after surgery and is free of disease at 5.5 years of follow-up. However, her brother also developed a right tibial periosteal osteosarcoma 4 years after her index surgery. Genetic analysis of blood sample from both patients showed a similar missense mutation in at least one allele of TP53 gene (exon 8). To the best of our knowledge, a case of bilateral \u27synchronous\u27 periosteal OS with a familial incidence has not been reported before. © ISS 2012