Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.24.11 (CD10)
 9,792 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Uterine leiomyomas are the most common benign tumor of the female genital tract. Previous studies have shown that conventional leiomyomas often harbor-specific alterations including rearrangements involving HMGA2. Cellular leiomyomas are a variant of uterine leiomyoma that are less well-studied from a genomic point of view. Morphologically and immunohistochemically, cellular leiomyomas may be confused with low-grade endometrial stromal neoplasms, a group of tumors which frequently harbor a number of recurrent gene fusions. Ancillary molecular testing may be used to investigate tumors where low-grade endometrial stromal neoplasms enter into the differential diagnosis. At our institution, we identified a uterine cellular leiomyoma harboring a HMGA2-TRAF3IP2 fusion. After a retrospective review 11 additional tumors were identified. All included cases were reviewed and evaluated for immunohistochemical expression of smooth muscle actin, desmin, h-caldesmon, CD10, estrogen receptor, and progesterone receptor. RNA sequencing using the TruSight RNA Fusion Panel was performed on formalin-fixed paraffin-embedded tissue samples. In addition to the index case, two other cases harbored fusions: HMGA2-NAA11 and TPCN2-YAP1, of which the latter is novel and was confirmed with reverse transcriptase-polymerase chain reaction. In conclusion, a subset of cellular leiomyomas harbor rearrangements involving HMGA2, suggesting molecular kinship with conventional uterine leiomyomas. In addition, the prevalence of the novel TPCN2-YAP1 gene fusion in cellular leiomyomas requires further study. The fusions reported here, when identified, may be useful when the diagnosis of cellular leiomyoma is in question.
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PMID:Gene fusions characterize a subset of uterine cellular leiomyomas. 3267 42

Atypical polypoid adenomyoma (APA) may progress to endometrioid carcinoma and may mimic myoinvasive carcinoma on biopsy specimens. Here, we present a case of an APA of the uterine cervix hysteroscopically treated, which recurred two years after and progressed to endometrioid carcinoma. In all biopsy specimens and in the hysterectomy specimen, the benign APA component showed an unusual immunohistochemical stromal pattern (periglandular fringe-like CD10 pattern, diffuse h-caldesmon positivity, p16 negativity), which is typical of myoinvasive carcinoma. Interestingly, the other three cases of cancerized APA assessed for h-caldesmon in the literature showed diffuse stromal positivity also in the benign APA component. Our case shows that the stromal markers used for differentiating between APA and myoinvasive carcinoma may be misleading even when their pattern seems unequivocal. Furthermore, our case suggests that h-caldesmon positivity might be a prognostic marker for progression of APA to carcinoma. Further studies are encouraged in this regard.
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PMID:Significance of stromal markers in atypical polypoid adenomyoma. 3282 31

Lipoleiomyoma is a rare, benign leiomyoma variant. It is relatively common in the uterine area of the female reproductive system but rare in other areas and has not been reported in the fallopian tubes. In this paper, we report a perimenopausal woman with a lipoleiomyoma arising from the ampulla of the fallopian tube with hydropic degeneration. What makes this case even rarer is the combination of hydrops of the pelvis and the abdominal cavity. Microscopically, the tumor was composed of smooth muscle tissue mixed with varying amounts of mature adipose tissue. The immunohistochemical markers were Des(+), SMA(+), H-caldesmon(+), ER(+), CD34(-), HMB45(-), Melan-A(-), CD10(-), S-100 focal adipocyte (+), and the positive rate of Ki67 was about 1%. Through this case report and review of similar literature, we hope to improve the understanding of the diagnosis and treatment of fallopian tube smooth muscle-derived tumors.
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PMID:Fallopian tube lipoleiomyoma with degeneration: a case report and literature review. 3292 15


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