Anaplastic sarcoma of the kidney

2023-02-19   Paola Dal Cin, PhD , Rita Alaggio, MD 

1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
2.IRCCS Ospedale Bambino Gesú , Roma (Italy)

Classification

Definition

Anaplastic sarcoma of the kidney (ASK) is a rare renal sarcoma recently recognized, with DICER1 mutation. 1

Clinics and Pathology

Epidemiology

ASK occurs in a wide age range from 10 months to 41 years (median age 5 years) with female predominance. 2 ASKs are part of DICER1 tumor predisposition syndrome OMIM:606241, which includes pleuropulmonary blastoma, brain tumors, sex-cord stromal tumors and other rare pediatric tumors. 3 Rare ASKs arise in cystic nephromas, 4 another neoplasm associated to DICER1 gene mutations. 5

Clinical features

Voluminous renal masses with hematuria in a minority

Macroscopic apperances

There are large masses with cysts and chondroid areas.

Histopathology

AKS shows spindle cells with variable anaplasia and nodules of hyaline cartilage or chondroid matrix, often displaying features of malignancy. Osteoid and osteoclast-like giant cells, primitive blastema-like areas and rhabdomyoblastic differentiation may be seen. 2

Immunohistochemistry

Non-specific with vimentin positive; desmin and p53 frequently positive; CD56, MYF4, PGP9.5 occasionally positive and MyoD1, Cytokeratins, CD34, CD99, WT1 negative. 2

Cytogenetics

Prognosis and treatment

In the past, AKS was diagnosed as Wilms tumor and treated accordingly. They have the tendency to metastases in lung, liver, and bones.  Prognosis is better in stage 1 tumors with (83% event-free and overall survival).   AKS have a good response to treatment: with protocols for anaplastic Wilms tumors. 2

Genetics

Cytogenetics

  A single case with cytogenetic abnormalities has been reported. 6

Mutations

  ASKs are characterized by RNase III b DICER1 mutation generally in trans or biallelic, with germline mutations, DICER1 syndrome 7 in about 50% of cases. Associated TP53 mutations with aberrant TP53 immunohistochemistry are also frequent. 8 

Promiscuity

 Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations OMIM:606241. 9,10  DICER1 is inherited in an autosomal dominant manner with reduced penetrance. Therefore,many individuals with a germline DICER1 pathogenic variant remain clinically unaffected. Identification of at-risk Individuals and recommended surveillance strategies.11

Article Bibliography

Reference NumberPubmed IDLast YearTitleAuthors
1345155772022Anaplastic Sarcoma of the Kidney With Heterologous Ganglioneuroblastic Differentiation: Another DICER1-Associated Tumor.Kroll-Wheeler L et al
2178957462007Anaplastic sarcoma of the kidney: a clinicopathologic study of 20 cases of a new entity with polyphenotypic features.Vujanić GM et al
3315378962020Expanding the spectrum of dicer1-associated sarcomas.Warren M et al
4270363142016Tumor progression in DICER1-mutated cystic nephroma-witnessing the genesis of anaplastic sarcoma of the kidney.Wu MK et al
5244810012014DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma.Doros LA et al
6206563192010Anaplastic sarcoma of the kidney with chromosomal abnormality: first report on cytogenetic findings.Gomi K et al
7314090882019DICER1 Syndrome.Hořínová V et al
8288622652018Anaplastic sarcomas of the kidney are characterized by DICER1 mutations.Wu MK et al
929343551985Longevity of human allospecific TLCs: mycoplasma infection as a cause of in vitro "suppression" of MLC.Rosen-Bronson S et al
10297625082018DICER1 Syndrome: DICER1 Mutations in Rare Cancers.Robertson JC et al
11293435572018DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies.Schultz KAP et al

Citation

Paola Dal Cin, PhD ; Rita Alaggio, MD

Anaplastic sarcoma of the kidney

Atlas Genet Cytogenet Oncol Haematol. 2023-02-19

Online version: http://atlasgeneticsoncology.org/solid-tumor/209010/anaplastic-sarcoma-of-the-kidney