Month: June 2017

4 Jun

A Rare Presentation of Hereditary Diffuse Gastric Cancer Masquerading As Cancer of Cervix

Unusual presentations of cancer are well recognized by oncologists world over and at DHRC we get to see a fair number of them. This 45 years old, Nepalese lady presented to the Gynae Oncology clinic of DHRC with complaints of bleeding per vagina and severe pain in the left lower limb and lumbo-sacral region for the last 6 weeks. She was carrying reports from one of the prestigious medical institutes ofIndia, suggesting an adenocarcinoma of the cervix, FIGO clinical stage IIA. She had the following investigation reports.

1 USG (Abdomen and Pelvis) Cervix replaced by 4-5cms growth with a left adenexal mass and left parametrial thickening in its medial portion.

2 MRI (Abdomen and Pelvis) 4- 5 cms growth of cervix with a left adenexal mass.

3 CA 125 within normal limits (56 u/ml)

4 Guided FNAC of left adenexal mass- inconclusive for cancer.

5 Punch biopsy of cervical growth was reported as an adenocarcinoma.

Since, there was a long waiting period and the lady was having severe bleeding p/v episodes, her son, a medical student inBangladesh, brought her to our hospital for second opinion and further management. On her detailed clinical examination following findings were found –

1 Systemic examination showed a 5 cms X 6cms, irregular, hard lump with restricted mobility and suspicious in nature in the right breast. The left breast had features of fibroadenosis

2 Per speculum, per vaginum and per rectal examination revealed the cervix was replaced by a 4 cms by 5cms growth involving all fornices and upper 1cm of left vagina. A 3 cms hard irregular left adenexal mass was felt in the left fornix.

3 Rest of clinical examination was unremarkable.

Further investigation of the suspicious right breast lump

Since FNAC was reported as inconclusive for cancer and mammography showed highly suspicious findings with Bio-rad III/IV a trucut biopsy of the breast lump was done, this was reported as a metastatic carcinoma to the breast with no expression of estrogen or progesterone receptors (ER/PR negative). Probability of primary in the gastro intestinal tract was considered, PET-CT (whole body) was done, which showed a FDG avid lesions at multiple sites in stomach, ascending colon, left breast, cervix, lower uterus and left adenexa..

When reports were discussed with patient’s relatives, they further reported that the patient’s sister and brother had died of gastric carcinoma in past. They were counseled for genetic study of close family members.

After the final discussion in the Tumor Board at DHRC, with all investigation reports, it was decided that a palliative treatment plan, with haemostatic radiotherapy and palliative chemotherapy should be imparted rather than a Wertheim Hysterectomy as it was thought at provisional diagnosis of clinical stage IIA adenocarcinoma of cervix.


Metastases to the uterine cervix are rare. The commonest primary tumors metastasizing to cervix are primary endometrial carcinoma followed by breast. It is very rare to find a gastric carcinoma metastasizing to the cervix, with rarest of rare situation, where there is a strong suggestion that it has a distinct familial proclivity. Retrograde lymphatic spread is the probable mode of spread to the cervix from the stomach. Metastases to cervix are generally associated with Kruckenberg tumors of the ovaries, as presented in this case.

Cancer of cervix, is commonly a squamous cell carcinoma but recent trends show an increasing incidence of adenocarcinomas of the uterine cervix and currently 10-25 percent of primary uterine cervical malignancies .

If Patients with cervical carcinoma on histopathology are reported as adenocarcinomas, one can not over-emphasize the importance of a thorough clinical examination and supportive investigations, to rule out the presence of a primary tumor at a distant site. In the present case, this appraisal included thorough systemic examination, sonography, MRI of the abdomen, pelvis, X-ray chest, mammography, relevant tumor markers, FNAC, trucut biopsy from adenexal mass and breast lump and PET -CT.

The detailed family history of cancer in blood relatives was a pointer in this direction although genetic studies could not be done in this patient. It most likely is a case of Hereditary Diffuse Gastric Cancer (HDGCs), which represents 1 to 3percent of all gastric cancers. About 53percent of these are associated with CDH1 gene mutation. These familial cancers demonstrate autosomal dominant inheritance and a high penetrance. The 5-year survival is just 20%, if the diagnosis is made after the patient is symptomatic.

Conclusion By careful examination, detailed investigations and planning, the inadvertent surgery could be avoided and correct prognostication was offered in this rare case of a Hereditary Diffuse Gastric Cancer with metastatic adenocarcinoma to the cervix. The importance of metastatic work up and thorough clinical examination and history can not be overemphasized in any cancer patient before definitive treatment planning.