SEOM clinical guideline on hereditary colorectal cancer (2019).

In the last 2 decades, clinical genetics on hereditary colorectal syndromes has shifted from just a molecular characterization of the different syndromes to the estimation of the individual risk of cancer and appropriate risk reduction strategies. In the last years, new specific therapies for some subgroups of patients have emerged as very effective alternatives. At the same time, germline multigene panel testing by next-generation sequencing (NGS) technology has become the new gold standard for molecular genetics.

SEOM clinical guidelines in Hereditary Breast and ovarian cancer.

Approximately, 7 % of all breast cancers (BC) and 11-15 % of ovarian cancers (OC) are associated with inherited predisposition, mainly related to germline mutations in high penetrance BRCA1/2 genes. Clinical criteria for genetic testing are based on personal and family history to estimate a minimum 10 % detection rate. Selection criteria are evolving according to new advances in this field and the clinical utility of genetic testing. Multiplex panel testing carries its own challenges and we recommend inclusion of genes with clinical utility. We recommend screening with annual mammography from age 30 and breast MRI from age 25 for BRCA1 and BRCA2 mutation carriers. Bilateral salpingo-oophorectomy should be offered to women with a BRCA1 or BRCA2 mutation, between 35 and 40 years and after completion of childbearing, or individualise based on the earliest age of ovarian cancer diagnosed in the family. Bilateral risk-reducing mastectomy is an option for healthy BRCA1 and BRCA2 mutation carriers, as well as contralateral mastectomy for young patients with a prior BC diagnosis. BRCA genetic testing in patients with BC and OC may influence their locoregional and systemic treatment.

Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).

BACKGROUND: BRCA1-associated breast cancers have been associated to a triple-negative phenotype. The prevalence of BRCA1 germline mutations in young onset TNBC based on informativeness of family history has not been reported. PATIENTS AND METHODS: From January 2008 to May 2009 were collected blood and tumor samples from patients with TNBC younger than 50 years and without a family history of breast and ovarian cancer in first- and second-degree relatives. Analysis of BRCA1 germline mutations was made. Age at diagnosis and informativeness of family history (presence of female in first- and second-degree relatives alive until age 45) was collected in all cases. Immunohistochemistry of basal-like features was performed centrally in all available tumors. RESULTS: Seven pathogenic mutations were detected in 92 patients (7.6 %), two of them in patients younger than 35 years (28.6 %) (Fisher's exact test, p = 0.631). Three non-classified variants were detected (3.2 %). Family history was informative in two patients with a pathogenic mutation (28.6 %) and not informative in five (71.4 %) (Fisher's exact test, p = 0.121). Of the seven patients with a pathogenic mutation, four had a basal-like phenotype. CONCLUSION: Patients with apparently sporadic TNBC younger than 50 years and a non-informative family history are candidates for germline genetic testing of BRCA1.

Lynch syndrome diagnostics: decision-making process for germ-line testing.

Cancer risks and medical management of Lynch syndrome (LS) differ from other hereditary or familial clustering of colorectal cancer. Differential diagnosis has improved as a result of the growing clinical and molecular knowledge about LS. Appropriate application of these advances in several scenarios constitutes a decision-making process to further decide germ-line testing with accuracy and efficiency. However, an only molecular-screening algorithm, with a limited number of steps and choices, may be difficult to devise. How, when, where and at what expense to use the different diagnostic tools remain dynamic and changeable under different circumstances. From a clinical point of view, it is advisable to discuss conflicting aspects to guide LS diagnosis.

Herpes zoster en lactantes / Herpes zoster in infants

The authors present the clinical history of four children under two years of age who were hospitalized in the Arnulfo Arias Madrid Medical Complex with the diagnosis of herpes zoster. The mothers of these children had varicella when in the third, sixth, eight and fifth month of pregnancy respectively and the children were 3, 24, 14 and 8 months old when they had herpes zoster. The first child (whose mother had varicella when she was three months pregnant) was born underweight, dysphagic and premature. The fourth (whose mother had varicella in the 5th. month of gestation) was only underweight. The other two (mothers had varicella in the 6th and 8th month of pregnancy, respectively) were born without apparent abnormality. The authors, based on their findings, believe that there is risk for the child to have a congenital malformation when the mother develops varicella in the first months of pregnancy

[Herpes zoster in infants]. / Herpes zoster en lactantes.

The authors present the clinical history of four children under two years of age who were hospitalized in the Arnulfo Arias Madrid Medical Complex with the diagnosis of herpes zoster. The mothers of these children had varicella when in the third, sixth, eight and fifth month of pregnancy respectively and the children were 3, 24, 14 and 8 months old when they had herpes zoster. The first child (whose mother had varicella when she was three months pregnant) was born underweight, dysphagic and premature. The fourth (whose mother had varicella in the 5th. month of gestation) was only underweight. The other two (mothers had varicella in the 6th and 8th month of pregnancy, respectively) were born without apparent abnormality. The authors, based on their findings, believe that there is risk for the child to have a congenital malformation when the mother develops varicella in the first months of pregnancy.

[Anhidrotic ectodermal dysplasia as a cause of fever of undetermined origin (presentation of a case)]. / Displasia ectodérmica anhidrótica como causa de fiebre de origen por determinar (presentacion de un caso).

The authors present the case of a patient hospitalized with the diagnosis of "fever of undetermined origin" (FUO) in whom the physical examination and laboratory tests (including a skin biopsy) showed that the child had anhidrotic ectodermal dysplasia. We study the differential diagnosis, the clinical findings, the histopathology and genetics of this entity.

[Benign hemophagocytic syndrome. First confirmed case in Panama]. / Síndrome hemofagocítico benigno, Primer caso confirmado en Panamá.

The authors present the clinical history of the first case of benign hemophagocytic syndrome diagnosed in Panama. The patient, a 4 year old girl, presented with fever, anemia, cervical lymphadenitis, hepatomegaly, lymphocytosis and histophagocytosis of red cells, lymphocytes, neutrophils and platelets. Spontaneous remission of the fever occurred sixty days after the onset of the disease. Although it was not possible to demonstrate serologically that the syndrome was due to acute toxoplasmosis, she was treated with sulfadiazine and pyrimethamine for fifteen days, on the 37th hospital day, and with clindamycin for ten days, consecutively. Remission occurred seventy days after the onset of fever. A second serological examination for toxoplasmosis (immunofluorescent antibodies) was positive in a titer of 1:2048 again, nine months after the first serology.