A Pathogenic Variant Reclassified to the Pseudogene PMS2P1 in a Patient with Suspected Hereditary Cancer.

The PMS2 gene is involved in DNA repair by the mismatch repair pathway. Deficiencies in this mechanism have been associated with Lynch Syndrome (LS), which is characterized by a high risk for colorectal, endometrial, ovarian, breast, and other cancers. Germinal pathogenic variants of PMS2 are associated with up to 5% of all cases of LS. The prevalence is overestimated for the existence of multiple homologous pseudogenes. We report the case of a 44-year-old woman diagnosed with breast cancer at 34 years without a relevant cancer family history. The presence of pathogenic variant NM_000535.7:c.1A > T, (p.Met1Leu) in PMS2 was determined by next-generation sequencing analysis with a panel of 322 cancer-associated genes and confirmed by capillary sequencing in the patient. The variant was determined in six family members (brothers, sisters, and a son) and seven non-cancerous unrelated individuals. Analysis of the amplified region showed high homology of PMS2 with five of its pseudogenes. We determined that the variant is associated with the PMS2P1 pseudogene following sequence alignment analysis. We propose considering the variant c.1A > T, (p.Met1Leu) in PMS2 for reclassification as not hereditary cancer-related, given the impact on the diagnosis and treatment of cancer patients and families carrying this variant.

Histology as Prognostic Factor in Early-Stage Cervical Carcinoma. Experience in a Third-Level Institution.

BACKGROUND: Cervical carcinoma (CC) is one of the most frequent neoplasms, especially in developing countries. The most common histopathological type is squamous cell carcinoma (SCC), followed by adenocarcinoma (AC) and adenosquamous carcinoma (ASC). Prognosis according to histological type is controversial. OBJECTIVE: The objective of this study is to describe and compare the prognoses of the most common histologies of CC in the early stages. MATERIALS AND METHODS: We reviewed records of patients attended at the Instituto Nacional de Cancerología of Mexico with CC surgically treated Stages IA2-IB1 and IIA1, including the histological types SCC, AC, and ASC. Patients who had another malignant neoplasm, cervical cancer in situ, locally advanced neoplasm, and metastatic neoplasm were excluded from the study. A descriptive and comparative analysis was conducted. Overall survival (OS) and disease-free period were calculated for each histological type with the Kaplan-Meier method and were compared with the log-rank test. RESULTS: A total of 202 records were obtained, of which 131 (64.9%) had SCC, 57 (28.2%) AC, and 14 (6.9%) ASC. The 5-year DFS was 94.4% for SCC, 98.1% for AC, and 92.3% for ASC, without a statistically significant difference (p = 0.55). The 5-year OS for SCC was 97.9%, for AC was 97.8%, and for ASC was 100%, without a statistically significant difference (p = 0.702). CONCLUSIONS: DFS and OS did not differ between the most common histological types of CC at the early stages.

Is lymphadenectomy necessary in mucinous ovarian cancer? A single institution experience.

BACKGROUND: According to the International Federation of Gynecology and Obstetrics (FIGO) guidelines, every patient diagnosed with ovarian cancer (OC) should undergo a complete staging procedure to adequately assess tumor spread. The role of lymphadenectomy in the initial management of primary early mucinous ovarian cancer (MOC) remains unclear. OBJECTIVE: To describe the prevalence of pelvic and para-aortic node metastases in MOC. MATERIALS AND METHODS: The records of patients with MOC treated at our Institute during January 2005 to December 2011 were assessed. A descriptive and comparative analysis was conducted. Overall survival (OS) and diseases-free period (DFP) were calculated with the Kaplan-Meier method and were compared with the log-rank test. RESULTS: Of 31 patients with MOC, 14 (45.16%) underwent lymphadenectomy, obtaining 190 pelvic nodes, with a median of 9 pelvic lymph nodes removed per patient (interquartile range = 15). There was no evidence of metastatic disease in the dissected pelvic nodes. CONCLUSION: These results suggest that complete surgical staging with lymph node dissection has no effect on recurrence, disease-free period, and overall survival of patients with early stage MOC.

Role of pelvic and para-aortic lymphadenectomy in abandoned radical hysterectomy in cervical cancer.

BACKGROUND: Cervical cancer (CC) occupies fourth place in cancer incidence and mortality worldwide in women, with 560,505 new cases and 284,923 deaths per year. Approximately, nine of every ten (87%) take place in developing countries. When a macroscopic nodal involvement is discovered during a radical hysterectomy (RH), there is controversy in the literature between resect macroscopic lymph node compromise or abandonment of the surgery and sending the patient for standard chemo-radiotherapy treatment. The objective of this study is to compare the prognosis of patients with CC whom RH was abandoned and bilateral pelvic lymphadenectomy and para-aortic lymphadenectomy was performed with that of patients who were only biopsied or with removal of a suspicious lymph node, treated with concomitant radiotherapy/chemotherapy in the standard manner. METHODS: A descriptive and retrospective study was conducted in two institutions from Mexico and Colombia. Clinical records of patients with early-stage CC programmed for RH with an intraoperative finding of pelvic lymph, para-aortic nodes, or any extracervical involvement that contraindicates the continuation of surgery were obtained. Between January 2007 and December 2012, 42 clinical patients complied with study inclusion criteria and were selected for analysis. RESULTS: In patients with CC whom RH was abandoned due to lymph node affectation, there is no difference in overall survival or in disease-free period between systematic lymphadenectomy and tumor removal or lymph node biopsy, in pelvic lymph nodes as well as in para-aortic lymph nodes, when these patients receive adjuvant treatment with concomitant radiotherapy/chemotherapy. CONCLUSIONS: This is a hypothesis-generator study; thus, the recommendation is made to conduct randomized prospective studies to procure better knowledge on the impact of bilateral pelvic and para-aortic lymphadenectomy on this group of patients.

[Metaplastic breast cancer: clinical factors]. / Cáncer de mama metaplásico: descripción de factores clínicos.

BACKGROUND: metaplastic breast carcinoma (MBC) is uncommon, characterized by a heterogeneous mixture of histologic characteristics. OBJECTIVE: evaluate clinical and pathological characteristics in a population of patients with MBC in a reference center. MATERIALS AND METHODS: retrospective analysis of cases diagnosed with MBC at INCAN database from 2005-2011 was performed. Univariate assessment of clinical variables and their impact on disease free survival(DFS) and overall survival (OS) were evaluated. RESULTS: the records of 20 patients were identified. Median age was 49.5 (range: 33-75). Clinical stages at diagnosis were 6 I-II (30%) and 14 III-IV (70%). Three year OS was 52.1%. Patients< 40 years had an OS of 32.8 months vs. ≥ 40 years of 17.8 (p = 0.097). OS in stage I-II was 13.5 months vs. 23.3 months in III-IV (p = 0.99). Those who received neoadjuvant therapy had an OS of 26.57 vs. 14.36 in those who did not(p = 0.54). Those who received adjuvant therapy had an OS of 31.2 months vs. 11.15 in those who did not (p = 0.036). CONCLUSIONS: MBC has bad prognosis, nevertheless, age < 40 years and hormone receptor positivity, as well as adjuvant treatment seems to be factors that have an influence OS.