В настоящей статье описывается клинический случай, демонстрирующий сложности прижизненной и посмертной диагностики у пациента с первичным миелофиброзом, осложненным генерализованной грибковой инфекцией, вызванной редким возбудителем Candida lusitaniae. Ведение таких пациентов в непрофильном стационаре при отсутствии результатов трепанобиопсии костного мозга и многообразие клинических ситуаций, при которых могут определяться такие проявления, как нейтрофильный лейкоцитоз со сдвигом влево без значительного уменьшения количества эритроцитов и тромбоцитов совместно с генерализованной лимфаденопатией и визуализацией вторичных очагов во внутренних органах, вызывает особое затруднение, становясь причиной неверной тактики лечения. Наслоение нескольких патологических процессов друг на друга (гранулематозное воспаление, очаги экстрамедуллярного кроветворения и обширные некротические изменения) затрудняет даже посмертную верификацию диагноза.

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Abstract. In the study the spectra of fluorescence excitation and autofluorescence of histological sections with different pathological processes in breast were measured. Additionally, element composition of the tissues was investigated by scanning electron microscopy. It has been shown that spectra of fluorescence excitation of benign breast diseases (fibroadenoma and fibrocystic breast disease) have low maximum at 232 nm and high maximum at 260 nm. Also, fluorescence spectra of histological samples change during tumor growth and have two maxima (335 and 420 nm). The registered spectra are result of emission of such fluorophores as fatty acids, tryptophan, NADH, vitamin B6, collagen and bilirubin. The obtained spectral data correlate well with data of element analysis. Selenium status of the tissues was investigated by scanning electronic microscope. High concentration if selenium was detected only in fibroadenoma. In breast cancer samples and fibrocystic breast disease low selenium content was detected. It may confirm higher risk for malignant transformation of fibrocystic breast disease than fibroadenoma. Our results may be helpful for cancer diagnostics and for prognosis prediction.

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Molecular profiling of tumors may provide promising options for personalized treatment. We have examined the spectrum of germline and somatic mutations in 23 breast cancers (BC) of various molecular subtypes, including tumors 1) with expression of estrogen, progesterone and/or epidermal growth factor receptor HER2/neu, and 2) with a triple negative phenotype. Genomic DNA specimens were isolated from archived tumor and normal tissue samples and subjected to targeted sequencing of the coding regions of 25 cancer-associated genes with a mean coverage of ×1000. In the triple negative subtype of BC, the pathogenic germline mutations BRCA1 c.66_67delAG (185delAG) and BRCA1 c.3226_3227AG (3347delAG) were detected, while the germline mutation BRCA2 658_659del (886delGT) was found in patients with positive receptor staining. Mutations in BRCA1/2 were overrepresented by frequency (80%), pointing at common loss of heterozygosity affecting the normal allele. Somatic mutations in the TP53 gene were found in 7/10 (70%) patients with the triple negative subtype of BC and in 3/13 (23%) in the group with positive receptor staining. Additionally, in both groups of patients, somatic mutations of the PTEN, MSH2, MSH6, and MUTYH genes were detected.