Category Archives: Organ Systems

Organ Systems, Bone Marrow, MDS

Ring Sideroblasts

General
  • Many cases of myelodysplasia (MDS-RS) and MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) are associated with SF3B1 mutations.
    • SF3B1 – splicosome gene, often comuted with JAK2 in cases of MDS/MPN-RS-T (less frequently CALR and MPL)
    • Only 5% RS is required to diagnosis MDS-RS if a SF3B1 mutation is identified.  If no mutation, then the 15% RS threshold remains.
Photomicrographs
Ringed Sideroblasts in MDS
Ringed Sideroblasts in MDS
Ringed Sideroblasts in MDS
Ringed Sideroblasts in MDS
Organ Systems, Renal

Clear Cell Renal Cell Carcinoma

Clear cell renal cell carcinoma is the most common malignant renal neoplasm (70–80% of renal cancers).  These tumors are associated with a deletion in chromosomes 3p.    The von Hippel-Lindau (VHL) gene lies in the deleted region, and is thought to act as a tumor suppressor gene in both the sporadic and familial forms of this tumor.  In difficult cases to classify histologically, knowledge of genetic abnormalities within the tumor can be important to sub-classifying renal carcinomas.

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Organ Systems, Renal

Papillary Renal Cell Carcinoma

Papillary renal cell carcinoma represents approximately 10–15% renal neoplasms, and the name describes its characteristic papillary histology.  From a molecular standpoint, tumors are associated with trisomy 7, trisomy 17, and loss of chromosome Y (trisomy 7 in the familial form).  In contrast to clear cell renal cell carcinoma these tumors are NOT associated with 3p deletions.

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Organ Systems, Renal

Renal Neoplasms

Renal Neoplasms – Malignant (2004 WHO Classification)

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