Synchronous primary gastric and renal tumors: a case report.

Synchronous multiple primary cancers of the stomach and kidney are very rare, only 45 cases of synchronous multiple primary cancers of the stomach and kidney had been reported in the literature up until 2020. Thus far, no particular risk factors have been identified. We present a case of synchronous multiple primary cancers of the stomach and kidney in a 67-year-old female presenting with a 3-month history of vomiting and abdominal pain. The diagnosis of gastric adenocarcinoma with signet ring cells was confirmed through upper endoscopy with biopsies, while CT-guided biopsies of the renal tumor confirmed the diagnosis of primary kidney neoplasm.

Having more than one cancer at the same time is known as multiple primary malignancies. Having cancers in both the stomach and kidney at the same time is even rarer, with only 45 cases reported in literature. The exact causes of such cancers occurring together are not yet known. We present a 67-year-old woman who was diagnosed with synchronous multiple primary cancers of the stomach and kidney. She presented with vomiting and abdominal pain. The diagnosis of gastric cancer was confirmed through upper endoscopy with biopsies, while biopsies of the renal tumor confirmed the diagnosis of primary kidney cancer.

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.

Clefts of the lip and/or palate (CL/P) are considered the most common form of congenital anomalies occurring either in isolation or in association with other clinical features. Van der woude syndrome (VWS) is associated with about 2% of all CL/P cases and is further characterized by having lower lip pits. Popliteal pterygium syndrome (PPS) is a more severe form of VWS, normally characterized by orofacial clefts, lower lip pits, skin webbing, skeletal anomalies and syndactyly of toes and fingers. Both syndromes are inherited in an autosomal dominant manner, usually caused by heterozygous mutations in the Interferon Regulatory Factor 6 (IRF6) gene. Here we report the case of a two-generation family where the index presented with popliteal pterygium syndrome while both the father and sister had clinical features of van der woude syndrome, but without any point mutations detected by re-sequencing of known gene panels or microarray testing. Using whole genome sequencing (WGS) followed by local de novo assembly, we discover and validate a copy-neutral, 429 kb complex intra-chromosomal rearrangement in the long arm of chromosome 1, disrupting the IRF6 gene. This variant is copy-neutral, novel against publicly available databases, and segregates in the family in an autosomal dominant pattern. This finding suggests that missing heritability in rare diseases may be due to complex genomic rearrangements that can be resolved by WGS and de novo assembly, helping deliver answers to patients where no genetic etiology was identified by other means.

[Sclerosing rhabdomyosarcoma of the parotid gland: Unusual location of a rare mesenchymal tumor]. / Rhabdomyosarcome sclérosant de la parotide : localisation inhabituelle d'une tumeur mésenchymateuse rare.

Rhabdomyosarcoma is a malignant mesenchymal tumour with skeletal muscle differentiation. Its sclerosing variant is a rare entity, which is described in the latest WHO edition of soft tissues in association with the spindle cell subtype, with which it shares clinical, morphological and cytogenetic features. Cytogenetic advances have allowed a prognostic approach to fusiform/sclerosing cell rhabdomyosarcoma by individualizing 3 different genomic prognostic groups. The parotid location of sclerosing rhabdomyosarcoma is exceptional with only two reported cases in the literature. It can pose a diagnostic challenge because of its rarity and histological similarities with other malignancies. We report the third case of sclerosing rhabdomyosarcoma of the parotid gland, which occurred in a 7-year old girl, who had consulted for a painless swelling of the parotid region of 4 months duration. Gross examination of the partial parotidectomy demonstrated an ill-circumscribed 35×30mm, firm and white glistening tumor. Histologically, it was composed of cords and trabeculae of small round cells, with ovoid and often irregular nuclei. Mitoses were numerous. The cytoplasm was scanty and cell margins were unclear. Tumor cells were set in a prominent hyalinized matrix. Scattered rhabdomyoblastic-like tumor cells were noted. The diagnosis of sclerosing rhabdomyosarcoma was performed after the positive immunostaining with desmin, myogenin and smooth muscle actin. No cytogenetic or molecular studies were performed. The patient underwent adjuvant chemo and radiotherapy, without recurrences or distant metastases during the 8-year follow-up.

PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development.

Recessive mutations in Post-GPI attachment to proteins 3 (PGAP3) cause the rare neurological disorder hyperphosphatasia with mental retardation syndrome 4 type (HPMRS4). Here, we report a novel homozygous nonsense mutation in PGAP3 (c.265C>T-p.Gln89*), in a 3-year-old boy with unique novel clinical features. These include decreased intrauterine fetal movements, dysgenesis of the corpus callosum, olfactory bulb agenesis, dysmorphic features, cleft palate, left ear constriction, global developmental delay, and hypotonia. The zebrafish functional modeling of PGAP3 loss resulted in HPMRS4-like features, including structural brain abnormalities, dysmorphic cranial and facial features, hypotonia, and seizure-like behavior. Remarkably, morphants displayed defective neural tube formation during the early stages of nervous system development, affecting brain morphogenesis. The significant aberrant midbrain and hindbrain formation demonstrated by separation of the left and right tectal ventricles, defects in the cerebellar corpus, and caudal hindbrain formation disrupted oligodendrocytes expression leading to shorter motor neurons axons. Assessment of zebrafish neuromuscular responses revealed epileptic-like movements at early development, followed by seizure-like behavior, loss of touch response, and hypotonia, mimicking the clinical phenotype human patients. Altogether, we report a novel pathogenic PGAP3 variant associated with unique phenotypic hallmarks, which may be related to the gene's novel role in brain morphogenesis and neuronal wiring.

Metatypical Basal Cell Carcinoma: A 6-Year Retrospective Study.

Metatypical basal cell carcinoma (MBCC) represents a high-risk type of cutaneous tumor and has characteristics similar to basal cell carcinoma and squamous cell carcinoma. We report a retrospective study of 13 patients who presented with cervicofacial MBCC. Our study found an increased prevalence of aggressive clinicohistologic features and showed disease recurrences in more than one-third of the patients; therefore, we conclude that MBCC is an aggressive variant that requires a complex surgical approach for achieving a stable and complete remission. (SKINmed. 2019;17:24-28).

HHV8/EBV Coinfection Lymphoproliferative Disorder: Rare Entity with a Favorable Outcome.

HHV8/EBV-associated germinotropic lymphoproliferative disorder (GLD) is a challenging diagnosis given its rarity, the particular clinical presentation, and the lack of expression of markers usually used in establishing hematopoietic lineage. We report a new case of HHV8/EBV GLD in an immunocompetent 78-year-old woman. The diagnosis was made in an incidentally discovered lymphadenopathy. Histological examination showed a nodular lymphoid proliferation centered by aggregates of atypical plasmablastic cells admixed with small lymphoid cells. Tumor cells were strongly positive with EMA, HHV8, LMP1, CD38, CD138, and kappa light chains. They were negative with common lymphoma-associated markers (CD20, CD3, CD15, CD30, CD10, and bcl2). In situ hybridization confirmed the monotypic kappa light chains and the EBV infection (EBER+). A polyclonal pattern of Ig gene rearrangement was detected by PCR analysis. In the adjacent lymph node parenchyma, some germinal centers mimicked Castleman disease. In this case, the differential diagnosis was discussed with an early stage of large B-cell lymphoma arising in HHV8-associated multicentric Castleman disease. The clinical presentation, the immunophenotype, and the molecular results helped to make the accurate diagnosis. Through the review of the nine previously reported cases in literature, we discuss the clinical and pathologic features and the differential diagnosis of HHV8/EBV GLD.

Metastatic Squamous Cell Carcinoma of the Stomach.

Primary squamous cell carcinoma of the stomach is very rare. Its pathogenesis is unclear and the treatment strategy is controversial. We report an agressive primary squamous cell carcinoma of the stomach with liver and lung metastases in a 55-year-old man. The patient presented with a 1-month history of abdominal pain, vomiting and weight loss. Abdominal ultrasound revealed multiple liver metastases. Endoscopic examination showed two tumour masses on the fundus of the stomach. Biopsy of the lesions revealed squamous cell carcinoma of the stomach. Chest x-ray showed multiple large pulmonary nodules highly suggestive of pulmonary metastases. The patient died ten days after he was admitted because of progression of the tumour and before any therapeutic decision.

Huge desmoid tumor of the anterior abdominal wall mimicking an intraabdominal mass in a postpartum woman: a case report.

Desmoid tumors are benign neoplasms that most often arise from muscle aponeurosis and have been associated with both trauma and pregnancy. The etiology of desmoids has not been determined. We report the case of anterior abdominal wall desmoid tumor in a female patient with previous history of cesarean section. Preoperative ultrasound and computed tomography demonstrated a large mass mimicking a large hematoma or an intraabdominal mass. The tumor was removed by wide excision with safe margins. The abdominal wall defect was reconstructed with polypropylene mesh. Subsequent histology revealed a desmoid tumor. Desmoid tumors in females are often associated with pregnancy or occur post-partum. The reasons behind this association are unclear. The most common sites are in the abdominal muscles.

Iatrogenic colorectal Kaposi sarcoma complicating a refractory ulcerative colitis in a human immunodeficiency negative-virus patient.

Kaposi sarcoma is a mesenchymal tumor associated to a human herpes virus-8. It often occurs in human immunodeficiency virus-positive subjects. Colorectal localization is rare. We report the case of a colorectal Kaposi sarcoma complicating a refractory ulcerative colitis treated with surgery after the failure of immunomodulator therapy in a human immunodeficiency virus-negative heterosexual man.

[Mixed germ cell tumor of the ovary with rhabdomyosarcomatous component. A case report]. / Tumeur germinale mixte de l'ovaire avec composante rhabdomyosarcomateuse. À propos d'un cas.

Malignant germ cell tumors of the ovary are rare representing 3% of all ovarian neoplasms. Hence, they are the most common ovarian malignancy in girls and young women and account for approximately two-thirds of the ovarian cancers that occur in the first two decades of life. Germ cell tumors constitute a heterogeneous group of tumors and are often mixed associating at least two different tumoral components. Exceptionally, sarcomatous areas can be found. We present a case of a 15-year old girl admitted for a voluminous left ovarian mass revealed by pelvic pain. Pathological examination of the dissected material revealed the tumor to be a mixed germ cell tumor (immature teratoma and yolk sac tumor) with rhabdomyosarcomatous component of embryonal type. Clinico-pathological characteristics of such ovarian tumors will be discussed with emphasis on diagnostic difficulties.

[Isolated primary gastric localization of a mantle cell lymphoma]. / Localisation gastrique primitive et isolée d'un lymphome du manteau.

Primary mantle cell lymphoma of the digestive tract is uncommon; it rarely involves the stomach and generally manifests as a lymphomatous polyposis. Isolated gastric localization is exceedingly rare. We present a case of a 57-year-old man who presented with a six-month history of atypical epigastric pain. Endoscopy revealed a large ulceration of the gastric mucosa. Histological examination of the biopsied specimens concluded to a marginal zone B-cell lymphoma (MALT-type) of low-grade. Patient underwent two courses of anti-Helicobacter pylori therapy followed by chemotherapy, without endoscopic amelioration. Histological control showed the persistence of a nodular lymphomatous proliferation that respects glands. It was made of monotonous small cells reactive with CD5 and cyclin D1. The diagnosis of gastric mantle cell lymphoma was made. No other digestive or nodal localization was found. Patient underwent intensive chemotherapy anti-CD20; he was free of disease three years after diagnosis. Primary mantle cell lymphoma of the stomach is an uncommon neoplasm. Diagnosis is often difficult and requires the use of CD5 to exclude a MALT-cell lymphoma, which is much more frequent in this location.