Diffuse sclerosing variant of papillary thyroid carcinoma: major genetic alterations and prognostic implications

Abstract

Taken together, RET/PTC rearrangement was the major genetic alteration seen in patients with DSV-PTC, and the RET/PTC3 rearrangement was associated with advanced stage at diagnosis and poor clinical outcome.

Ultrasonographic imaging of papillary thyroid carcinoma variants

“…RET/PTC rearrangement is the major genetic alteration in DSV PTC, whereas the prevalence of the BRAF mutation is relatively low (24%) [35]. The US features of the DSV include a heterogeneous echotexture in the parenchyma, an ill-defined solid hypoechoic nodule when formed as a mass, scattered microcalcifications within or without the nodule (appearing as a “snowstorm”), and representative psammoma bodies on pathology (Fig.…”

Fine needle aspiration cytology of the papillary thyroid carcinoma with a solid component: A cytological and clinical correlation

“…[1][2][3][4] Among them, solid variant of papillary thyroid carcinoma (SVPTC) is one of the rarest subtypes, first described by Carcangiu et al 5 The exact clinicopathological features of SVPTC remain elusive due to conflicting results from previous studies. [1][2][3][4] Among them, solid variant of papillary thyroid carcinoma (SVPTC) is one of the rarest subtypes, first described by Carcangiu et al 5 The exact clinicopathological features of SVPTC remain elusive due to conflicting results from previous studies.…”

Update on the cytologic features of papillary thyroid carcinoma variants

“…The DSV is a relatively uncommon variant (<6%) of PTC that typically occurs in young individuals, especially women, and presents as goiter without a dominant mass, reflecting a diffuse involvement that can mimic Hashimoto thyroiditis and/or lymphoma . A characteristic “snowstorm appearance” on ultrasound, due to numerous and widespread microcalcifications, is described in DSV . Hashimoto thyroiditis is also frequently associated with DSV (30–75%) .…”

“…Genetically, RET/PTC rearrangements are common in DSV (46% RET/PTC1 and 16% RET/PTC3) , with RET/PTC3 being associated with advanced‐stage disease at diagnosis and poor response to therapy. In contrast, BRAF mutations are uncommon (0–24%) and RAS mutations have not been found in DSV . Interestingly, most patients with RET/PTC ‐positive DSV do not have history of radiation exposure .…”

“…In contrast, BRAF mutations are uncommon (0–24%) and RAS mutations have not been found in DSV . Interestingly, most patients with RET/PTC ‐positive DSV do not have history of radiation exposure . Finally, Chou et alfound that ALK translocations may be more common in DSV (13%) than other PTC variants (2%) but did not predict more aggressive disease in these patients …”