Elevated tumor markers, few symptoms, many tests, but no diagnosis. Please help!

Dear all,

I am writing my case history hoping somebody will be able to review it and help me. I am experiencing a few symptoms, I accumulated many test results, but no one can provide a name for my problem. It's a mystery. This is my story:

Family history:

Aunt 1 (father side) – Adenocarcinoma coli

Aunt 2 (father side) – Carcinoma of unknown primary origin

Uncle (father side) – Prostate cancer

Aunt 3 (mother side) – Adenocarcinoma corpus uteri

Father – Renal cell carcinoma & Carcinoma planocellulare bronchi 

In the case of my father, the renal cancer was detected by ultrasound incidentally three years before nephrectomy but was falsely diagnosed as small cortical renal cyst. Shortly after, the same false diagnose was confirmed with another ultrasound and CT scan. More than a few doctors assured us that it’s incidental findings. From April 2003 to April 2005 he was totally asymptomatic. First symptoms appeared as the paraneoplastic syndrome (cough, weight loss, and fever). During next 9 months, there were a lot of false “lung” diagnosis and treatments. He became very weak and ill, but doctors didn’t know what is the cause. We ordered new CT of the left kidney and suspected diagnosis was cystic nephroma. The doctors were sure that kidney lesion is benign and that is not the reason for his condition. Finally, my father was so weak that I had to sign the "informed consent" for exploratory abdominal surgery. Left kidney was removed and PHD showed advanced and very aggressive type of renal cell carcinoma. The tumor was mixed, containing tubular and epithelial atypical malignant cells, but mostly (60%) clear cell type of cancer (with sarcoid growth presented, nuclear grades IV). He died in 2006 after a few subsequent therapies (immunotherapy, chemotherapy, Sutent) and many complications. Metastases were found in the lungs, bones and brain. Planocellular carcinoma of bronchii were diagnosed during the terminal stage of RCC and was not treated.

My medical history:

Since 2001 - posttraumatic grand mal epilepsy (car accident). Therapy: methylphenobarbital (100 mg/once a day).

2009 & 2010 - cervical spine surgery (Anterior Cervical Discectomy and Fusion)

Since 2012 - regular breast ultrasound examinations due to follicular cysts (BIRADS 2 or 3). Last examination in December 2014 (BIRADS 1).

May 2012 - extirpation of Atypical Spitz tumor (region antebrachii lat. sin). In November 2012, re-excision with the benign PHD. Since then, regular examinations by Dermato-oncologist. Last dermatoscopy in September 2014 - everything OK.

MAY 2013. In May 2013, I gave birth to my first child. Baby boy was born by cesarean section without complication. During pregnancy, my neurologist ordered tumor markers screening (CEA, CA 72-4, AFP) as a routine practice for epileptic pregnant women. Levels of CEA and CA 72-4 were slightly elevated and since then are constantly and slowly increasing (5 times CEA and 3 times CA 72-4). MAY 2014. In May 2014, I was diagnosed with blighted ovum and curettage was performed in the 11^th week of pregnancy. PHD showed residues of pregnancy tissues, but the reason was not determined. Menstrual cycles vary between 19 and 33 days and they are significant more irregular since first pregnancy. SEPTEMBER 2014. Abdominal ultrasound & colonoscopy & gastroscopy (because of elevated markers) – benign finding (gastritis). DECEMBER 2014. At the beginning of December 2014, spontaneous galactorrhea appeared. Nipple discharge is symmetric, yellowish and milk-like. No odor or visible blood is present. I stopped with breastfeeding 8 months before. Cause of galactorrhea is not breast stimulation or trauma of any kind. My gynecologist found right ovary cyst by ultrasound (17,9 x 14,3 mm) and ordered some tests. Pap test was ok; MRI of hypophysis gland was normal, as well as ultrasound of breasts. Serum prolactin, TSH, T3 and T4 levels were within the reference range. Hematology, biochemistry (urea, creatinine, AST, ALT, GOT, LDH) and Urine analysis was normal. Urine culture was sterile.

Tumor markers was:

CEA = 12.52 µg/L (ref.range .8 or <6.5 for smokers)

CA72-4 = 16.06 kIU/L (ref. range <6.9)

CA125 = 25.16 kIU/L (ref. range <35)

HE4 = 93.1  pmol/L (ref. range <92.1)

ROMA index=26.7% (ref. >11.4 - high risk for ovarian malignancy in a premenopausal woman).

βHCG and AFP were within the reference range.

Gynecologist sends me to the oncologist. After examination by oncologist, an MRI of abdomen+ pelvis was done, CT of thorax and ultrasound of the thyroid gland.

CT of thorax is normal, ultrasound of thyroid showed colloid goiter (two small nodules, diameter 3 mm), while MRI of abdomen confirmed right ovary cyst (diameter 2,3 cm) and few small cystic cortical lesions in my left kidney. MRI was without contrast. Regarding ovary cyst it seems like follicular cyst with thin wall. My gynecologist will further monitor it. Regarding kidney cysts, there is no detailed description. In MRI finding, there is just one sentence: “There are a few cortical cysts in the left kidney were largest one is 0.8 cm in diameter”. I have the CD with images, but I don’t know how to read it. With these findings, I must visit my oncologist and I still have no diagnosis. I am very restless with my elevated tumor markers and cysts and family history. I have feeling that my dad's medical history just happening to me.

Subjectively, I can say that I am constantly tired, but that might be caused by my lifestyle. I did not sleep enough; I have a job and small kid so I have reason to be tired. I urinate probably 15 times a day, I don’t know is it a symptom or not. Also, for more than a year I have intermittent, low grade, low back pain in the area of the left kidney. In the past, I contributed this pain to my lumbar spine diagnosis (L4-L5 disc protrusion), but the fact is that pain is always located on the left side, so maybe it could be due to kidney lesions, I am not sure.

I still have been undiagnosed and if somebody has any ideas and approaches that may help me to determine a diagnosis, I will be very grateful. I really need some directions what to do.