Expanding the spectrum of ALK‐rearranged renal cell carcinomas in children: Identification of a novel HOOK1‐ALK fusion transcript

Cajaíba, Mariana M.; Jennings, Lawrence J.; George, David; Perlman, Elizabeth J.

doi:10.1002/gcc.22382

Cited by 32 publications

(37 citation statements)

References 12 publications

(16 reference statements)

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“…In a recent prospective study of RCCs in paediatric and young adult patients, 3.8% were found to be ALK ‐rearranged . To our knowledge, since the first report in 2011, a total of 22 cases of ALK rearrangement‐associated RCC have been reported . The majority of patients were male (male/female ratio of 1.4:1), and they demonstrated a wide age range.…”

Section: Alk Rearrangement‐associated Rccmentioning

confidence: 96%

“…Chromosomal rearrangements resulting in the fusion of ALK with several partner genes lead to aberrant ALK activation through the formation of oncogenic chimeric proteins. In addition to VCL – ALK , which was found exclusively in paediatric patients with sickle‐cell trait, four other ALK fusions have been identified: TPM3 – ALK , EML4 – ALK , striatin ( STRN )– ALK , and HOOK1 – ALK . EML4 – ALK and STRN – ALK fusions were found in two and three adult patients, respectively, and HOOK1 – ALK fusion was found in one paediatric patient .…”

Section: Alk Rearrangement‐associated Rccmentioning

confidence: 99%

“…In addition to VCL – ALK , which was found exclusively in paediatric patients with sickle‐cell trait, four other ALK fusions have been identified: TPM3 – ALK , EML4 – ALK , striatin ( STRN )– ALK , and HOOK1 – ALK . EML4 – ALK and STRN – ALK fusions were found in two and three adult patients, respectively, and HOOK1 – ALK fusion was found in one paediatric patient . TPM3 – ALK fusion was identified in six ALK rearrangement‐associated RCC patients (three paediatric and three adults) .…”

Section: Alk Rearrangement‐associated Rccmentioning

confidence: 99%

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New and emerging renal entities: a perspective post‐WHO 2016 classification

2018

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Renal tumours include a heterogeneous and diverse spectrum of neoplasms. Recent advances in this field have significantly improved our understanding of the morphological, immunohistochemical, molecular, epidemiological and clinical characteristics of renal tumours, which led to the new Vancouver classification of renal neoplasia and the new World Health Organization (WHO) classification of renal cell tumours. This review aims to summarise the new information and evidence on several new and emerging/provisional renal entities, which were mostly generated after the recent classification of renal neoplasia. We include in this review the following new and emerging/provisional renal entities: succinate dehydrogenase‐deficient renal cell carcinoma, thyroid‐like follicular carcinoma of the kidney, anaplastic lymphoma kinase rearrangement‐associated renal cell carcinoma, renal cell carcinomas with prominent smooth muscle stroma, fumarate hydratase‐deficient renal cell carcinoma, biphasic squamoid papillary renal cell carcinoma, eosinophilic solid and cystic renal cell carcinoma, atrophic kidney‐like renal cell carcinoma, clear cell renal cell carcinoma with giant cells and emperipolesis, Warthin‐like papillary renal cell carcinoma, and low‐grade oncocytic renal tumour (CD117‐negative; cytokeratin 7‐positive). Some of these entities, such as succinate dehydrogenase‐deficient renal cell carcinoma, have already been recognised as new entities in the WHO classification, and some have been recognised as provisional/emerging entities. However, we include in this review several additional entities that, on the basis of the published evidence, also warrant this designation. We hope that this review will ease the navigation through this complex and evolving field, and will inform and stimulate new studies and discussions.

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Section: Alk Rearrangement‐associated Rccmentioning

confidence: 96%

Section: Alk Rearrangement‐associated Rccmentioning

confidence: 99%

Section: Alk Rearrangement‐associated Rccmentioning

confidence: 99%

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New and emerging renal entities: a perspective post‐WHO 2016 classification

2018

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“…S1 and Table S1 in the Supporting Information available online). HOOK1 primer was not shown in the previous case report, and we could not try RT‐PCR for HOOK1‐ALK.…”

Section: Pathological Findingsmentioning

confidence: 89%

“…Furthermore, ALK inhibitors, crizotinib and alectinib, are very effective against ALK‐positive lung cancer, and ALK‐based medications have attracted considerable attention for the treatment of other ALK‐positive cancers . Under these circumstances, there have been 16 cases of ALK‐ positive renal cell carcinoma (ALK + RCC) since the first report in 2011 . Herein, we report an additional case of ALK + RCC with a review of the literature.…”

mentioning

confidence: 99%

A case of anaplastic lymphoma kinase‐positive renal cell carcinoma coincident with Hodgkin lymphoma

Oyama

Nishida

Kusaba

et al. 2017

Pathology International

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We report a case of ALK-positive renal cell carcinoma coincident with Hodgkin lymphoma. The patient was a 19 year-old-girl without sickle cell trait. The right renal tumor was discovered concomitantly with Hodgkin lymphoma (HL). After chemotherapy for HL, right nephrectomy was performed. Microscopically, the tumor showed a solid and focally pseudo-papillary growth pattern studded with tubular structures. Most tumor cells were small bland eosinophilic cells, but rhabdoid cells, vacuolated cells, pleomorphic multinucleated giant cells were also admixed. The variety of growth patterns and cell features led us to speculate a possibility of ALK-positive renal cell carcinoma (ALK + RCC). ALK was immunohistochemically positive, and fluorescence in situ hybridization analysis detected a split signal of the ALK gene. We examined previously reported partner genes (STRN, TPM3, VCL and EML4) by RT-PCR, but fusion gene was not detected. RCC showing solid or cribriform growth patterns with vacuolated cells with intracytoplamic lumina, rhabdoid cells, and mucus production indicates the possibility of ALK + RCC.

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HOOK1 Inhibits the Progression of Renal Cell Carcinoma via TGF‐β and TNFSF13B/VEGF‐A Axis

Yin

Chen

et al. 2023

Advanced Science

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Accumulating evidence shows HOOK1 disordered in human malignancies. However, the clinicopathological and biological significance of HOOK1 in renal cell carcinoma (RCC) remains rarely studied. In this study, the authors demonstrate that HOOK1 is downregulated in RCC samples with predicted poorer clinical prognosis. Mechanistically, HOOK1 inhibits tumor growth and metastasis via canonical TGF-𝜷/ALK5/p-Smad3 and non-canonical TGF-𝜷/MEK/ERK/c-Myc pathway. At the same time, HOOK1 inhibits RCC angiogenesis and sunitinib resistance by promoting degradation of TNFSF13B through the ubiquitin-proteasome pathway. In addition, HOOK1 is transcriptionally regulated by nuclear factor E2F3 in VHL dependent manner. Notably, an agonist of HOOK1, meletin, is screened and it shows antitumor activity more effectively when combined with sunitinib or nivolumab than it is used alone. The findings reveal a pivotal role of HOOK1 in anti-cancer treatment, and identify a novel therapeutic strategy for renal cell carcinoma.

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Expanding the spectrum of ALK‐rearranged renal cell carcinomas in children: Identification of a novel HOOK1‐ALK fusion transcript

Cited by 32 publications

References 12 publications

New and emerging renal entities: a perspective post‐WHO 2016 classification

New and emerging renal entities: a perspective post‐WHO 2016 classification

A case of anaplastic lymphoma kinase‐positive renal cell carcinoma coincident with Hodgkin lymphoma

HOOK1 Inhibits the Progression of Renal Cell Carcinoma via TGF‐β and TNFSF13B/VEGF‐A Axis

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