Spindle cell carcinoma: the general demographics, basic clinico-pathologic characteristics, treatment, outcome and prognostic factors.

BACKGROUND: Owing to the rarity, the general demographics, basic clinico-pathologic features, management, outcome and prognostic factors of spindle cell carcinoma (SpCC) were unexplored. METHODS: A SEER analysis was performed with 2336 cases (1973-2016). RESULTS: A peak incidence occurred at 70~80 years without any gender predominance and 83.13% occurred in white people. The respiratory system was mostly affected tumor site (35%). Significant overall survival (OS) and disease specific survival (DSS) were found differentiated in gender, age, marital status, primary tumor location, AJCC stage, T stage, N stage, M stage, pathologic grade and treatment modality. In the multivariate Cox model, the age > 69 years (Hazard ratio [HR] = 1.427 for OS, P = 0.01 and HR = 1.491 for DSS, P = 0.003; Reference [Ref] age ≤ 69 years), tumor location in respiratory system (HR = 1.550 for OS, P = 0.041 and HR = 1.561 for DSS, P = 0.04; Ref: digestive system), N2 stage (HR = 1.962 for OS, P = 0.006 and HR = 1.982 for DSS, P = 0.004; Ref: N0 stage) and AJCC stage IV (HR = 4.601 for OS, P = 0.000 and HR = 5.107 for DSS, P = 0.000; Ref: stage I) were independently associated with worse OS and DSS. CONCLUSIONS: SpCC mostly occurred in white people at 70~80 years old without predominance in any gender. The respiratory system was mostly affected site. The patient's age, primary tumor location, AJCC stage were independent prognostic indicators for both DSS and OS of SpCC.

Absence of KHDC3L mutations in Chinese patients with recurrent and sporadic hydatidiform moles.

To date, two maternal-effect genes have been shown to play causal roles in recurrent hydatidiform moles (RHMs). NLRP7, a major gene for this condition, codes for a nucleotide-binding oligomerization domain-like receptor and is mutated in 48 to 60% of patients with RHMs. KHDC3L is a recently identified gene that is mutated in 14% of NLRP7-negative patients. We screened KHDC3L for mutations in a total of 101 Chinese patients, 15 with at least two hydatidiform moles, 16 with at least two reproductive losses including one hydatidiform mole, and 70 with one hydatidiform mole and no other form of reproductive loss, but did not find any mutation. Our data favor the causal role of KHDC3L in a minority of RHM cases, demonstrate its noninvolvement in other forms of reproductive loss, and indicate the presence of other unidentified genes that cause or increase patients' susceptibility to RHMs in the Chinese population.