Renal carcinoma with (6;11)(p21;q12) translocation: Report of an adult case

Abstract

An extremely rare adult example of renal carcinoma with t(6;11)(p21;q12 or q13) is presented here. The tumor of a 45-year-old Japanese male, excised under the diagnosis of renal cell carcinoma, was a well circumscribed 7 cm mass with light brown sectioned surfaces. Histologically, it was composed of a major population of large polygonal epithelioid cells in a nested alveolar growth and a subpopulation of smaller cells clustering around hyaline basement membrane material. The former cells possessed ample, clear to eosinophilic granular cytoplasm with well-defined cell borders and the latter was frequently accompanied by psammomatous calcification. These tumor cells exhibited immunoreactivity for melanoma markers, transcription factor EB and cathepsin K, but were not reactive for epithelial markers and transcription factor E3. While pulmonary metastatic foci that were noted preoperatively progressed rapidly following interferon-based therapy, subsequent sunitinib malate yielded a partial response and stabilized the lung metastasis for 6 months after surgery. We could trace 20 cases of 6p21 translocation renal carcinoma, among which only four were in individuals older than 40 years. Description of a new case like this is important since little is known about the prognosis and treatment of adult patients with this condition.

Clinicopathological study of 5 cases of renal cell carcinoma with t(6;11)(p21;q12)

“…As this tumor generally occurs in children and young adults, urologists and pathologists should take the differential diagnosis of renal tumor arising in children and young adults into consideration [6,7,8,9,10,11,12,13]. As observed in the present study, this tumor may occur even at the age over 40 years [14,15,16,17,18,19,20]. In some cases, previous cytotoxic chemotherapy may be involved in the pathogenesis of this tumor [8].…”

“…This tumor shows overexpression of TFEB protein because of the formation of the Alpha-TFEB chimeric transcript caused by chromosomal translocation between 6p21 and 11q12, and nuclear expression of TFEB is a highly sensitive and specific diagnostic marker [7]. The combined immunohistochemical stainings for cathepsin K, melanosome-related antigen (clone HMB45) and melan A seem to be an adjunctive diagnostic tool in identification of RCC with t(6;11)(p21;q12) [4,6,7,11,13,15,16,18,19,20,21,22,23,24,27,28]. The break-apart FISH study for the TFEB gene seems to be an excellent measure for the definite diagnosis because the fusion partner for the TFEB gene is limited to the Alpha (MALAT) gene [17,20,23,28,29].…”

“…In metastatic tumors, mTOR inhibitor may be effective because this tumor is nowadays considered to be related to the mTOR pathway [29]. Immune therapy such as interferon and a VEGF/PDGF inhibitor such as sunitinib may be valuable in some cases [15]. In this viewpoint, evaluation of the vascular pattern in RCC with t(6;11)(p21;q12) may be important, as some histological subtypes including clear cell, papillary, chromophobe and unclassified RCCs were analyzed [31].…”

“…The prognosis seems to be generally excellent [10,11,18,27,30] with several exceptions. Some tumors did cause recurrence, metastasis or a dismal outcome, particularly in adult cases [15,16,25]. In metastatic tumors, mTOR inhibitor may be effective because this tumor is nowadays considered to be related to the mTOR pathway [29].…”

MiT translocation renal cell carcinomas: two subgroups of tumours with translocations involving 6p21 [t (6; 11)] and Xp11.2 [t (X;1 or X or 17)]

“…The malignant potential is low. Only three cases with aggressive behaviour have been published (approximately 10%) Inamura et al 2012; Pecciarini et al 2007; Ishihara et al 2011. We add one more case with aggressive clinical course.…”